Archive | February 2022

Teen Dating Violence Awareness Month

 Teen dating violence

Unhealthy relationships can start early and last a lifetime.  Teens often think some behaviors, like teasing and name calling, are a “normal” part of a relationship. However, these behaviors can become abusive and develop into more serious forms of violence.

Teen Dating Violence is defined as the physical, sexual, psychological, or emotional violence within a dating relationship, including stalking. It can occur in person or electronically and might occur between a current or former dating partner. Several different words are used to describe teen dating violence. Below are just a few.

  • Relationship abuse
  • Intimate partner violence
  • Relationship violence
  • Dating abuse
  • Domestic abuse
  • Domestic violenceA 2013 Survey found approximately 10% of high school students reported physical victimization and 10% reported sexual victimization from a dating partner in the 12 months before they were surveyed.Read on to know the negative effects of teenage dating: Most teenagers lack the proper understanding of balancing friendship and dating causing even best friends to grow apart. This also implies increasing isolation with their new found boyfriends or girlfriends making them further unavailable and unexposed to potential friends in their immediate circle.The most visible negative impact of teenage dating is the school grades. Teenagers lose interest in studies and this is emblematic of their shifting priorities in life. This involves a double failure when teenagers lose their marks in class followed by problems in a relationship on the personal front.
  • Teenage dating deals more with exploring their new-found youthfulness than exploring the extent of love. This makes them reduce a relationship to the concept of possessing a boyfriend or a girlfriend making them lose sight of what is important. This is why we have more cases of teenage dating than cases of everlasting friendship.
  • The biggest threat about teenage dating is their inability to maintain a relationship. Teenagers mostly, do not understand the necessity of sustaining a relationship over a period of time. Therefore, frequent break ups and fights lead to attempts of suicide, teenage pregnancy or mental instability in extreme cases. This happens due to lack of experience and a broader understanding of what relationships are.
  • Teenage dating has been possible in the modern times due to modernisation and free flowing communication. As a result, it also comes with a set of negative implications.
  • Dating violence is widespread with serious long-term and short-term effects. Many teens do not report it because they are afraid to tell friends and family. A 2011 CDC nationwide survey found that 23% of females and 14% of males who ever experienced rape, physical violence, or stalking by an intimate partner, first experienced some form of partner violence between 11 and 17 years of age.

Consequences of Dating Violence

 

Dating violence can have serious consequences. While the immediate impact might be humiliation and/or physical pain, young people who experience abuse are more likely to be in physical fights or bring weapons to school. They might exhibit higher rates of drug and alcohol abuse as well as high-risk sexual behaviors. Targets of abuse are also more likely to contemplate or attempt suicide.

Here are some consequences the target may experience:

Lose confidence in oneself

Become afraid to express feelings of anger

Suffer serious injury, even death

Begin to doubt their own abilities, feelings, and decision-making ability

Feel isolation from family and friends

Feel shame and guilt

Feel lonely

Face inability to maintain long-lasting or fulfilling relationships

Get a sexually transmitted infection

Experience an unwanted pregnancy

Build up large doctor or lawyer expenses

Abandon dreams and goals

Become depressed, anxious, fearful, or suicidal

Begin having problems at work, school, and other activities

Experience damage to personal property

Here are some consequences the perpetrator may experience:

Get arrested

Unable to attend college due to criminal record

Spend time in jail

Experience feelings of shame and guilt

Feel isolation from family and friends

Face inability to maintain long-lasting or fulfilling relationships

Contract a sexually transmitted infection

Experience an unwanted pregnancy

Build up large doctor or lawyer expenses

Abandon dreams and goals

Become depressed, anxious, fearful, or suicidal

Begin having problems at work, school, and other activities

Lose dating partner’s love and respect

Have conflict with parents or other caregivers

Dating partner could end relationship

Dating has many positive benefits for teens, even if they easily get carried away with romantic feelings. Appropriate teen relationships lead to maturity in teenagers and a better understanding of adult relationships. Getting this practice in early allows teens to discover what they want and need out of romantic relationships. Through dating, teens gain essential tools in navigating the world and are better able to develop meaningful intimate relationships as adults.

The way to stop teen dating violence is through prevention.   For a good recommendation of suggestions go to the Compiled by the Wisconsin Coalition Against Domestic Violence www.wcadv.org Adapted from Hope House of South Central Wisconsin. Remember you don’t want to have to treat it but instead take the action in preventing it.

QUOTE FOR THE WEEKEND:

“Schnitzler syndrome is an autoinflammatory disease characterized by chronic, nonpruritic urticaria in association with recurrent fever, bone pain, arthralgia or arthritis, and a monoclonal gammopathy, most often of the immunoglobulin M (IgM) subtype. Approximately 10-15% of patients eventually develop a lymphoproliferative disorder, such as lymphoplasmacytic lymphoma, Waldenström macroglobulinemia, or IgM myeloma.”.

MedScape (https://emedicine.medscape.com/article/1050761)

QUOTE FOR FRIDAY:

“Goodpasture syndrome is a life-threatening autoimmune disorder. It causes the immune system to attack tissues in the lungs and kidneys. Symptoms include coughing up blood and trouble breathing. Untreated, the syndrome leads to lung damage, kidney failure and death. Treatments include medications and plasmapheresis, a type of blood transfusion.  Goodpasture syndrome causes life-threatening bleeding in the lungs. Without treatment, this bleeding is fatal. It can also lead to kidney failure. With an early diagnosis, treatments are effective.”.

Cleveland Clinic (https://my.clevelandclinic.org)

 

QUOTE FOR THURSDAY:

  • Heart disease is the leading cause of death for women in the United States, killing 299,578 women in 2017—or about 1 in every 5 female deaths.2
  • Heart disease is the leading cause of death for African American and white women in the United States. Among American Indian and Alaska Native women, heart disease and cancer cause roughly the same number of deaths each year. For Hispanic and Asian or Pacific Islander women, heart disease is second only to cancer as a cause of death.3

Centers for Disease Control and Prevention (CDC.gov)

Women with Heart Disease and how it differs compared to men diagnosed with it.

                             Women and Heart DIsease

Many many women and their doctors don’t know that heart disease is the number one killer of women. Furthermore, the heart disease that is seen in women is often not quite the same as heart disease in men.

Let’s remember from Part I that Heart disease is an umbrella term that includes heart failure, coronary artery disease (CAD), arrhythmias, angina, and other heart-related infections, irregularities, and birth defects

These facts lead to two common (and sometimes tragic) misapprehensions held by many women and their doctors: That women don’t really get much heart disease, and when they do, it behaves pretty much like the heart disease that men get.

The truth is that not only is heart disease very common in women, but also, when women get heart disease it often acts quite differently than it does in men. Failing to understand these two fundamental truths leads to a lot of preventable deaths and disability in women with heart disease.

If you are a woman, you need to know the basics about heart disease – especially heart disease as it behaves in women.

When women have angina, they are more likely than men to experience “atypical” symptoms. Instead of chest pain, they are more likely to experience a hot or burning sensation, or even tenderness to touch, which may be located in the back, shoulders, arms or jaw – and often women have no chest discomfort at all. An alert doctor will think of angina whenever a patient describes any sort of fleeting, exertion-related discomfort located anywhere above the waist, and they really shouldn’t be thrown off by such “atypical” descriptions of symptoms. However, unless doctors are thinking specifically of the possibility of CAD, they are all too likely to write such symptoms off to mere musculoskeletal pain or gastrointestinal disturbances.

Women are more likely than men to have heart attack symptoms unrelated to chest pain, such as:

      • Neck, jaw, shoulder, upper back or abdominal discomfort.
      • Shortness of breath.
      • Right arm pain.
      • Nausea or vomiting.
      • Sweating.
      • Lightheadedness or dizziness.
      • Unusual fatigue.

Heart attacks (or myocardial infarctions)  also tend to behave differently in women.

Frequently, instead of the crushing chest pain that is considered typical for a heart attack, women may experience nausea, vomiting, indigestion, shortness of breath or extreme fatigue – but no chest pain. Unfortunately, these symptoms are also easy to attribute to something other than the heart. Furthermore, women (especially women with diabetes) are more likely than men to have “silent” heart attacks – that is, heart attacks without any acute symptoms at all, and which are diagnosed only at a later time, when subsequent cardiac symptoms occur.

The Diagnosis Of CAD in Women Can Be More Difficult.

Diagnostic tests that work quite well in men can be misleading in women. The most common problem is seen with stress testing – in women, the electrocardiogram (ECG) during exercise can often show changes suggesting CAD, whether CAD is present or not, making the study difficult to interpret. Many cardiologists routinely add an echocardiogram or a thallium study when doing a stress test in a woman, which greatly improves diagnostic accuracy.

In women with typical CAD, coronary angiography is every bit as useful as in men; it identifies the exact location of any plaques (i.e., blockages) within the coronary arteries, and guides therapeutic decisions. However, in women with atypical coronary artery disorders (to be discussed in the next section), coronary angiograms often appear misleadingly normal. Thus, in women angiography is often not the gold standard for diagnosis, as it is for most men.

CAD In Women Can Take Atypical Forms.

At least four atypical coronary artery disorders can occur in women, usually in younger (i.e., pre-menopausal) women. Each of these conditions can produce symptoms of angina with apparently “normal” coronary arteries (that is, coronary arteries that often appear normal on angiogram). The problem, obviously, is that if the physician trusts the results of the angiogram, he/she is likely to miss the real diagnosis.

DALLAS, February 19, 2013 — A new study show women’s heart disease awareness is increasing.  A study with the number of women aware that heart disease is the leading cause of death nearly is doubling in the last 15 years, but that this knowledge still lags in minorities and younger women, according to the American Heart Association (AHA).

Among the study’s major findings, researchers comparing women’s views about heart disease in 1997 and today found:

  • In 2012, 56 percent of women identified heart disease as the leading cause of death compared with 30 percent in 1997.
  • In 1997, women were more likely to cite cancer than heart disease as the leading killer (35 percent versus 30 percent); but in 2012, only 24 percent cited cancer.
  • In 2012, 36 percent of black women and 34 percent of Hispanic women identified heart disease as the top killer — awareness levels that white women had in 1997 (33 percent).
  • Women 25-34 years old had the lowest awareness rate of any age group at 44 percent.

Among the women surveyed in 2012, researchers found:

  • Racial and ethnic minorities reported higher levels of trust in their healthcare providers compared with whites, and were also more likely to act on the information provided—dispelling the myth that mistrust of providers contributes to disparities.
  • Compared with older women, younger women were more likely to report not discussing heart disease risk with their doctors (6 percent among those 25-34 versus 33 percent for those 65 and older).

Risk Factors for Heart Disease in Women – Those we can’t change = Nonmodifiable Factors:

Age and Family History, Gender, Ethnicity.

The risk of having heart disease increases with age and this is due to stiffening of heart muscles which makes the heart less efficient in pumping blood around the body. You can determine your heart age by using this tool, developed by the British Heart Foundation: https://www.bhf.org.uk/heart-health/risk-factors/check-your-heart-age.

Another risk factor you cannot change is if you have a history of heart disease among family members. This can double your risk, so if your mother, father, sister or brother has suffered from heart disease before the age of 60 you are at a greater risk of developing heart disease.

Modifiable Risk Factors – Those we can change are:

1-Smoking is the single largest preventable cause of death in Australia, and approximately 40% of women who smoke die due to heart disease, stroke or blood vessel disease. Smokers are 2-4 times more at risk of developing heart disease compared to non-smokers. In 2011/2012, over 1.3 million women in Australia smoked, and 89% of them did this on a daily basis. While these numbers are for women aged 15 and over, the largest group were in the 25-34 age group.

Passive smoking (exposure to the cigarette smoke of others) also causes an increase in the risk of developing heart disease, which increases further in people having high blood pressure or high cholesterol. Women who smoke and also take the contraceptive pill have a 10 times higher risk of having a heart attack.

2-Alcohol. Do you know that drinking too much alcohol increases the risk of heart disease? Excessive drinking causes more weight gain (due to increased calories!), increase in blood pressure and blood lipids. Over a long period of time it can weaken the heart muscle and cause abnormal heart rhythms. Try and not drink alcohol every day, limit it to two standard drinks at a time and aim for at least two alcohol free days a week and make sure you don’t increase the amount you drink on the other days. Periodically take a break from any alcohol for a week or more and you will notice many benefits including a better nights sleep.

3.High Blood Pressure or Hypertension. Your blood pressure is a measurement of how ‘hard’ your heart is working to push blood around your body, through the blood vessels. It can be a ‘silent’ killer and if you do not know your blood pressure then it is worth having it checked by your GP. Changing your lifestyle will reduce your blood pressure. A recent study suggests that keeping your blood pressure under 140/90 can increase your life expectancy by 5 years at the age of 50 years. You can assess your high blood pressure through your MD monthly or less expensive buy a b/p machine and check your b/p everyday especially if your on antihypertensive meds to make sure your b/p isn’t under 100/60 to prevent hypotension.

4.Diabetes. Do you have diabetes and if so, is it under control?

Diabetes doubles your risk of having heart disease. People who have uncontrolled diabetes are at risk of having heart disease at an earlier age. For pre-menopausal women, having diabetes cancels the protective effects of hormone present in women and significantly increases the risk of heart disease. Taking steps to find out what your blood sugar is and keeping it well-controlled is essential.

5.Obesity- Do you know your body fat content?  If you think that you are overweight then you put yourself at risk of having heart disease. Being overweight will increase your blood pressure and contribute to developing diabetes. In addition to that, women who carry weight around their middle (belly fat) as opposed to their hips are twice as likely to develop heart disease.

By taking the steps to reduce your weight, you can reduce your risk of heart disease. A great tool developed by National Heart Foundation of Australia calculates if you might be at risk: http://www.heartfoundation.org.au/healthy-eating/Pages/bmi-calculator.aspx

6- INACTIVE-Are you physically active every day? Recent research indicates that “sitting is the new smoking” and being physically inactive can double your risk of having heart disease. It is important to get some exercise every day, such as a 30 minute walk where you raise your heart rate. It also raises your serotonin levels (feel-good hormone) and can reduce depression

7- STRESS-We could almost ask – do you know anyone who is not stressed?! However, while everyday life is stressful, those people who are almost constantly stressed are at risk of adopting unhealthy behaviours in order to reduce their stress levels. Examples include increasing their alcohol intake or smoking in order to relax; or tending to eat more junk food because they are often short of time. All of these factors increase their risk of heart disease.

Women, stress and the risk of heart disease

Along with poor diet, lack of exercise and smoking, unmanaged stress may increase the risk for heart disease. Now medical experts are discovering that mental stress affects women in different, and in some cases, more devastating ways, especially if they already have coronary conditions. One study that

Heart disease is the leading cause of death for men and women in the United States. Every year, 1 in 4 deaths are caused by heart disease. The good news? Heart disease can often be prevented when people make healthy choices and manage their health conditions. Communities, health professionals, and families can work together to create opportunities for people to make healthier choices. Make a difference in your community: Spread the word about strategies for preventing heart disease and encourage people to live heart healthy lives

 

QUOTE FOR WEDNESDAY:

“Albinism is an inherited disorder that’s present at birth. Children have a chance of being born with albinism if both of their parents have albinism or both of their parents carry the gene for albinism.  For most types of albinism, both parents must carry the gene in order for their child to develop the condition. Most people with albinism have parents who are only carriers of the gene an”d don’t have symptoms of the condition. Other types of albinism, including one that only affects the eyes, mostly occur when a birthing parent passes the gene for albinism on to a child assigned male at birth.”

healthline.com

Part II Albinism

                                                               Albinism1a

Genetics of Albinism

The genes for OCA are located on “autosomal” chromosomes. Autosomes are the chromosomes that contain genes for our general body characteristics, contrasted to the sex chromosomes. We normally have two copies of these chromosomes and the genes on them – one inherited from our father, the other inherited from our mother. Neither of these gene copies is functional in people with albinism. However, albinism is a “recessive trait”, so even if only one of the two copies of the OCA gene is functional, a person can make pigment, but will carry the albinism trait. Both parents must carry a defective OCA gene to have a child with albinism. When both parents carry the defective gene (and neither parent has albinism) there is a one in four chance at each pregnancy that the baby will be born with albinism. This type of inheritance is called “autosomal recessive” inheritance.

Ocular albinism (OA1) is caused by a genetic defect of the GPR143 gene that plays a signaling role that is especially important to pigmentation in the eye. OA1 follows a simpler pattern of inheritance because the gene for OA1 is on the X chromosome. Females have two copies of the X chromosome while males have only one copy (and a Y chromosome that makes them male). To have ocular albinism, a male only needs to inherit one defective copy of the gene for ocular albinism from his carrier mother. Therefore almost all of the people with OA1 are males. Indeed, parents should be suspicious if a female child is said to have ocular albinism.

For couples who have not had a child with albinism, there is no simple test to determine whether a person carries a defective gene for albinism. Researchers have analyzed the DNA of many people with albinism and found the changes that cause albinism, but these changes are not always in exactly the same place, even for a given type of albinism. Moreover, many of the tests do not find all possible changes. Therefore, the tests for the defective gene may be inconclusive.

If parents have had a child with albinism previously, and if that affected child has had a confirmed diagnosis by DNA analysis, there is a way to test in subsequent pregnancies to see if the fetus has albinism. The test uses either amniocentesis (placing a needle into the uterus to draw off fluid) or chorionic villous sampling (CVS). Cells in the fluid are examined to see if they have an albinism gene from each parent.

For specific information and genetic testing, seek the advice of a qualified geneticist or genetic counselor. The American College of Medical Genetics and the National Society of Genetic Counselors maintain a referral list. Those considering prenatal testing should be made aware that people with albinism usually adapt quite well to their disabilities and lead very fulfilling lives.

Eye problems in albinism result from abnormal development of the eye because of lack of pigment and often include:

  • Nystagmus: regular horizontal back and forth movement of the eyes
  • Strabismus: muscle imbalance of the eyes, “crossed eyes” (esotropia), “lazy eye” or an eye that deviates out (exotropia)
  • Photophobia: sensitivity to bright light and glare
  • People with albinism may be either far-sighted or near-sighted and usually have astigmatism
  • Foveal hypoplasia: the retina, the surface inside the eye that receives light, does not develop normally before birth and in infancy
  • Optic nerve misrouting: the nerve signals from the retina to the brain do not follow the usual nerve routes
  • The iris, the colored area in the center of the eye, has little to no pigment to screen out stray light coming into the eye. (Light normally enters the eye only through the pupil, the dark opening in the center of the iris, but in albinism light can pass through the iris as well.)People with albinism are sensitive to glare, but they do not prefer to be in the dark, and they need light to see just like anyone else. Sunglasses or tinted contact lenses help outdoors. Indoors, it is important to place lights for reading or close work over a shoulder rather than in front.Some people with albinism use bioptics, glasses which have small telescopes mounted on, in, or behind their regular lenses, so that one can look through either the regular lens or the telescope. Newer designs of bioptics use smaller light-weight lenses. Some states allow the use of bioptic telescopes for driving.
  • In tropical countries, those who do not use skin protection may develop life-threatening skin cancers. If they use appropriate skin protection, such as sunscreen lotions rated 20 SPF or higher and opaque clothing, people with albinism can enjoy outdoor activities even in summer.Funding for the development and original printing of this information Bulletin was provided by the Innovating Worthy Projects Foundation of Somers Point, New Jersey. NOAH gratefully acknowledges their assistance. Revised 2007 by Rick Thompson, O.D., F.A.A.O. NOAH Board of Scientific Advisors, Kelsey Thompson, M.S., C.R.C., Chair, NOAH Editorial Committee.Hermansky-Pudlak Syndrome NetworkPositive ExposureAmerican Foundation for the Blind (AFB)Canadian National Institute for the Blind (CNIB)National Society of Genetic Counselors
  • Maintains a referral list of genetic counselors Phone: 610-872-7608 Web: www.nsgc.org
  • 1929 Bayview Avenue Toronto, ON M4G 3E8 Phone: 800-563-2642 Web: www.cnib.ca
  • Provides information about programs and clinics for people with impaired vision throughout the United States 11 Penn Plaza, Suite 300 New York, NY 10001 Phone: 800-AFB-LIND Web:www.afb.org
  • A nonprofit organization offering innovative photographic exhibits, challenging the stigma associated with difference and celebrating the richness of genetic variation. 43 E. 20th St., 6th Floor New York, NY 10003 Phone: 212-420-1931 Web: www.positiveexposure.org
  • A NOAH affiliate providing information and support to individuals and families with HPS One South Road Oyster Bay, NY 11771-1905 Phone: 800-789-9HPS Web: www.hpsnetwork.org
  • People with albinism are at risk of isolation because the condition is often misunderstood. Social stigmatization can occur, especially within communities of color, where the race or paternity of a person with albinism may be questioned. Families and schools must make an effort not to exclude children with albinism from group activities. Contact with others with albinism or who have albinism in their families or communities is most helpful. NOAH can provide the names of contacts in many regions of the country.
  • In the United States, most people with albinism live normal life spans and have the same types of general medical problems as the rest of the population. The lives of people with Hermansky-Pudlak Syndrome can be shortened by lung disease or other problems. Other conditions include Chediak-Higashi and Griscelli Syndrome.
  • Optometrists or ophthalmologists who are experienced in working with low vision patients can recommend various optical aids. Clinics should provide aids on trial loan and provide instruction in their use. The American Foundation for the Blind maintains a directory of low vision clinics. In Canada, support is available from the Canadian National Institute for the Blind.
  • Various optical aids are helpful to people with albinism and the choice of an optical aid depends on how a person uses his or her eyes in jobs, hobbies, or other usual activities. Some people do well using bifocals which have a strong reading lens, prescription reading glasses, or contact lenses. Others use hand-held magnifiers or special small telescopes and some prefer to use screen magnification products on computers.
  • For the most part, treatment of the eye conditions consists of visual rehabilitation. Surgery to correct strabismus may improve the appearance of the eyes. However, since surgery will not correct the misrouting of nerves from the eyes to the brain, surgery will not improve eyesight or fine binocular vision. In the case of esotropia or “crossed eyes,” surgery may help vision by expanding the visual field (the area that the eyes can see while looking at one point).

QUOTE FOR TUESDAY:

Albinism is a group of inherited disorders that results in little or no production of the pigment melanin, which determines the color of the skin, hair and eyes. Melanin also plays a role in the development of certain optical nerves, so all forms of albinism cause problems with the development and function of the eyes.”

National for Advancing Translational Sciences – NIH

What is Albinism?

AlbinismAlbinism1a

The word “albinism” refers to a group of inherited conditions. People with albinism have little or no pigment in their eyes, skin, or hair. They have inherited altered genes that do not make the usual amounts of a pigment called melanin. One person in 17,000 in the U.S.A. has some type of albinism. Albinism affects people from all races. Most children with albinism are born to parents who have normal hair and eye color for their ethnic backgrounds. Sometimes people do not recognize that they have albinism. A common myth is that people with albinism have red eyes. In fact there are different types of albinism and the amount of pigment in the eyes varies. Although some individuals with albinism have reddish or violet eyes, most have blue eyes. Some have hazel or brown eyes. However, all forms of albinism are associated with vision problems.

Vision Problems

People with albinism always have problems with vision (not correctable with eyeglasses) and many have low vision. The degree of vision impairment varies with the different types of albinism and many people with albinism are “legally blind,” but most use their vision for many tasks including reading and do not use Braille. Some people with albinism have sufficient vision to drive a car. Vision problems in albinism result from abnormal development of the retina and abnormal patterns of nerve connections between the eye and the brain. It is the presence of these eye problems that defines the diagnosis of albinism. Therefore the main test for albinism is simply an eye examination.

Skin Problems

While most people with albinism are fair in complexion, skin or hair color is not diagnostic of albinism. People with many types of albinism need to take precautions to avoid damage to the skin caused by the sun such as wearing sunscreen lotions, hats and sun-protective clothing.

Types of Albinism

While most people with albinism have very light skin and hair, not all do. Oculocutaneous (pronounced ock-you-low-kew-TAIN-ee-us) albinism (OCA) involves the eyes, hair and skin. Ocular albinism (OA), which is much less common, involves primarily the eyes, while skin and hair may appear similar or slightly lighter than that of other family members.

Over the years, researchers have used various systems for classifying oculocutaneous albinism. In general, these systems contrasted types of albinism having almost no pigmentation with types having slight pigmentation. In less pigmented types of albinism, hair and skin are cream-colored and vision is often in the range of 20/200. In types with slight pigmentation, hair appears more yellow or red-tinged and vision may be better. Early descriptions of albinism called these main categories of albinism “complete” and “incomplete” albinism. Later researchers used a test that involved plucking a hair root and seeing if it would make pigment in a test tube. This test separated “ty-neg” (no pigment) from “ty-pos” (some pigment). Further research showed that this test was inconsistent and added little information to the clinical exam.

Recent research has used analysis of DNA, the chemical that encodes genetic information, to arrive at a more precise classification system for albinism. Four forms of OCA are now recognized – OCA1, OCA2, OCA3 and OCA4; some are further divided into subtypes.

  • Oculocutaneous albinism type 1 (OCA1 or tyrosinase-related albinism) results from a genetic defect in an enzyme called tyrosinase (hence ‘ty’ above). This enzyme helps the body to change the amino acid tyrosine into pigment. (An amino acid is a “building block” of protein.) There are two subtypes of OCA1. In OCA1A, the enzyme is inactive and no melanin is produced, leading to white hair and very light skin. In OCA1B, the enzyme is minimally active and a small amount of melanin is produced, leading to hair that may darken to blond, yellow/orange or even light brown, as well as slightly more pigment in the skin.
  • Oculocutaneous albinism type 2 (OCA2 or P gene albinism) results from a genetic defect in the P protein that helps the tyrosinase enzyme to function. Individuals with OCA2 make a minimal amount of melanin pigment and can have hair color ranging from very light blond to brown.
  • Oculocutaneous albinism type 3 (OCA3) is rarely described and results from a genetic defect in TYRP1, a protein related to tyrosinase. Individuals with OCA3 can have substantial pigment.
  • Oculocutaneous albinism type 4 (OCA4) results from a genetic defect in the SLC45A2 protein that helps the tyrosinase enzyme to function. Individuals with OCA4 make a minimal amount of melanin pigment similar to persons with OCA2.

Researchers have also identified several other genes that result in albinism with other features. One group of these includes at least eight genes leading to Hermansky-Pudlak Syndrome (HPS). In addition to albinism, HPS is associated with bleeding problems and bruising. Some forms are also associated with lung and bowel disease. HPS is a less common form of albinism but should be suspected if a person with albinism shows unusual bruising or bleeding.

Genetics of Albinism

The genes for OCA are located on “autosomal” chromosomes. Autosomes are the chromosomes that contain genes for our general body characteristics, contrasted to the sex chromosomes. We normally have two copies of these chromosomes and the genes on them – one inherited from our father, the other inherited from our mother. Neither of these gene copies is functional in people with albinism. However, albinism is a “recessive trait”, so even if only one of the two copies of the OCA gene is functional, a person can make pigment, but will carry the albinism trait. Both parents must carry a defective OCA gene to have a child with albinism. When both parents carry the defective gene (and neither parent has albinism) there is a one in four chance at each pregnancy that the baby will be born with albinism. This type of inheritance is called “autosomal recessive” inheritance.

Ocular albinism (OA1) is caused by a genetic defect of the GPR143 gene that plays a signaling role that is especially important to pigmentation in the eye. OA1 follows a simpler pattern of inheritance because the gene for OA1 is on the X chromosome. Females have two copies of the X chromosome while males have only one copy (and a Y chromosome that makes them male). To have ocular albinism, a male only needs to inherit one defective copy of the gene for ocular albinism from his carrier mother. Therefore almost all of the people with OA1 are males. Indeed, parents should be suspicious if a female child is said to have ocular albinism.

For couples who have not had a child with albinism, there is no simple test to determine whether a person carries a defective gene for albinism. Researchers have analyzed the DNA of many people with albinism and found the changes that cause albinism, but these changes are not always in exactly the same place, even for a given type of albinism. Moreover, many of the tests do not find all possible changes. Therefore, the tests for the defective gene may be inconclusive.

If parents have had a child with albinism previously, and if that affected child has had a confirmed diagnosis by DNA analysis, there is a way to test in subsequent pregnancies to see if the fetus has albinism. The test uses either amniocentesis (placing a needle into the uterus to draw off fluid) or chorionic villous sampling (CVS). Cells in the fluid are examined to see if they have an albinism gene from each parent.

For specific information and genetic testing, seek the advice of a qualified geneticist or genetic counselor. The American College of Medical Genetics and the National Society of Genetic Counselors maintain a referral list. Those considering prenatal testing should be made aware that people with albinism usually adapt quite well to their disabilities and lead very fulfilling lives.

Vision Rehabilitation

Eye problems in albinism result from abnormal development of the eye because of lack of pigment and often include:

  • Nystagmus: regular horizontal back and forth movement of the eyes
  • Strabismus: muscle imbalance of the eyes, “crossed eyes” (esotropia), “lazy eye” or an eye that deviates out (exotropia)
  • Photophobia: sensitivity to bright light and glare
  • People with albinism may be either far-sighted or near-sighted and usually have astigmatism
  • Foveal hypoplasia: the retina, the surface inside the eye that receives light, does not develop normally before birth and in infancy
  • Optic nerve misrouting: the nerve signals from the retina to the brain do not follow the usual nerve routes
  • The iris, the colored area in the center of the eye, has little to no pigment to screen out stray light coming into the eye. (Light normally enters the eye only through the pupil, the dark opening in the center of the iris, but in albinism light can pass through the iris as well.)

For the most part, treatment of the eye conditions consists of visual rehabilitation. Surgery to correct strabismus may improve the appearance of the eyes. However, since surgery will not correct the misrouting of nerves from the eyes to the brain, surgery will not improve eyesight or fine binocular vision. In the case of esotropia or “crossed eyes,” surgery may help vision by expanding the visual field (the area that the eyes can see while looking at one point).

People with albinism are sensitive to glare, but they do not prefer to be in the dark, and they need light to see just like anyone else. Sunglasses or tinted contact lenses help outdoors. Indoors, it is important to place lights for reading or close work over a shoulder rather than in front.

Various optical aids are helpful to people with albinism and the choice of an optical aid depends on how a person uses his or her eyes in jobs, hobbies, or other usual activities. Some people do well using bifocals which have a strong reading lens, prescription reading glasses, or contact lenses. Others use hand-held magnifiers or special small telescopes and some prefer to use screen magnification products on computers.

Some people with albinism use bioptics, glasses which have small telescopes mounted on, in, or behind their regular lenses, so that one can look through either the regular lens or the telescope. Newer designs of bioptics use smaller light-weight lenses. Some states allow the use of bioptic telescopes for driving.

Optometrists or ophthalmologists who are experienced in working with low vision patients can recommend various optical aids. Clinics should provide aids on trial loan and provide instruction in their use. The American Foundation for the Blind maintains a directory of low vision clinics. In Canada, support is available from the Canadian National Institute for the Blind.

Medical Problems

In the United States, most people with albinism live normal life spans and have the same types of general medical problems as the rest of the population. The lives of people with Hermansky-Pudlak Syndrome can be shortened by lung disease or other problems. Other conditions include Chediak-Higashi and Griscelli Syndrome.

In tropical countries, those who do not use skin protection may develop life-threatening skin cancers. If they use appropriate skin protection, such as sunscreen lotions rated 20 SPF or higher and opaque clothing, people with albinism can enjoy outdoor activities even in summer.

People with albinism are at risk of isolation because the condition is often misunderstood. Social stigmatization can occur, especially within communities of color, where the race or paternity of a person with albinism may be questioned. Families and schools must make an effort not to exclude children with albinism from group activities. Contact with others with albinism or who have albinism in their families or communities is most helpful. NOAH can provide the names of contacts in many regions of the country.

Funding for the development and original printing of this information Bulletin was provided by the Innovating Worthy Projects Foundation of Somers Point, New Jersey. NOAH gratefully acknowledges their assistance. Revised 2007 by Rick Thompson, O.D., F.A.A.O. NOAH Board of Scientific Advisors, Kelsey Thompson, M.S., C.R.C., Chair, NOAH Editorial Committee.

Resources

Hermansky-Pudlak Syndrome Network

A NOAH affiliate providing information and support to individuals and families with HPS
One South Road
Oyster Bay, NY 11771-1905
Phone: 800-789-9HPS
Web: www.hpsnetwork.org

Positive Exposure

A nonprofit organization offering innovative photographic exhibits, challenging the stigma associated with difference and celebrating the richness of genetic variation.
43 E. 20th St., 6th Floor
New York, NY 10003
Phone: 212-420-1931
Web: www.positiveexposure.org

American Foundation for the Blind (AFB)

Provides information about programs and clinics for people with impaired vision throughout the United States
11 Penn Plaza, Suite 300
New York, NY 10001
Phone: 800-AFB-LIND
Web:www.afb.org

QUOTE FOR MONDAY:

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