Leber congenital amaurosis (LCA) is an eye disorder that primarily affects the retina. LCA is most typically passed through families by the autosomal recessive pattern of inheritance. In this type of inheritance, both parents, called carriers, have one gene for the disease paired with one normal gene. Each of their children has a 25 percent chance (or 1 chance in 4) of inheriting the two LCA genes (one from each parent) needed to cause the disorder. Carriers are unaffected because they have only one copy of the gene. At this time, it is impossible to determine who is a carrier for LCA until after the birth of an affected child.People with this condition typically have severe visual impairment beginning in infancy.

 Signs or symptoms with this disease include:

Photophobia, involuntary movements of the eyes (nystagmus), and extreme farsightedness. The pupils also do not react normally to light. Additionally, the cornea may be cone-shaped and abnormally thin (keratoconus). Franceschetti’s oculo-digital sign is characteristic of Leber congenital amaurosis. This sign consists of poking, pressing, and rubbing the eyes with a knuckle or finger. Different subtypes have been described. The different subtypes are caused by genetic changes in different genes. Some of these subtypes are also distinguished by their patterns of vision loss and related eye abnormalities.

Leber congenital amaurosis (LCA) is a rare genetic eye disorder. Affected infants are often blind at birth. Other symptoms may include crossed eyes (strabismus); rapid, involuntary eye movements (nystagmus); unusual sensitivity to light (photophobia); clouding of the lenses of the eyes (cataracts); and/or a cone shape to the front of the eye (keratoconus). LCA is usually inherited as an autosomal recessive genetic condition.  In addition, some infants may exhibit hearing loss, intellectual disability, and/or developmental delay.

Specific types of LCA have been defined based on the causative gene. Some types are associated with little change in vision over time (stationary disease) while others become more severe over time (progressive disease).

Causes

“Injuries are the leading cause of death for Americans ages 1 to 44 and the leading cause of disability for Americans of all age groups. In 2010 alone, an estimated 126,000 people died from accidental injuries. Many of those disabilities and deaths are preventable, which is reason enough to take a few extra safety precautions each day in order to avoid a life-altering injury.”

National Safety Council – NSC

“Sickle cell disease is an inherited blood disorder that affects red blood cells. People with sickle cell disease have red blood cells that contain mostly hemoglobin S, an abnormal type of hemoglobin. Sometimes these red blood cells become sickle-shaped (crescent shaped) and have difficulty passing through small blood vessels. When sickle-shaped cells block small blood vessels, less blood can reach that part of the body. Tissue that does not receive a normal blood flow eventually becomes damaged. This is what causes the complications of sickle cell disease. There is currently no universal cure for sickle cell disease.”.

Sickle Cell Disease Association of America

“Males experience more traumatic events on average than do females, yet females are more likely to meet diagnostic criteria for Posttraumatic Stress Disorder (PTSD), according to a review of 25 years of research reported in the November issue of Psychological Bulletin, published by the American Psychological Association (APA).

From the review, researchers David F. Tolin, PhD of the Institute of Living and Edna B. Foa, PhD, of the University of Pennsylvania School of Medicine found that female study participants were more likely than male study participants to have experienced sexual assault and child sexual abuse, but less likely to have experienced accidents, nonsexual assaults, witness death or injury, disaster or fire and combat or war. Sexual trauma, the authors conclude, may cause more emotional suffering and are more likely to contribute to a PTSD diagnosis than other types of trauma. Women’s higher PTSD rates were not solely attributable to their higher risk for adult sexual assault and child sexual abuse, explained Tolin. PTSD rates were still higher for women even when both sexes were compared on the same type of trauma. PTSD may be diagnosed more in women in part because of the criteria used to define it. Cognitive and emotional responses to traumatic events make a diagnosis of PTSD more likely.”.

American Psychological Association

“All children may experience very stressful events that affect how they think and feel. Most of the time, children recover quickly and well. However, sometimes children who experience severe stress, such as from an injury, from the death or threatened death of a close family member or friend, or from violence, will be affected long-term.  The first step to treatment is to talk with a healthcare provider to arrange an evaluation. For a PTSD diagnosis, a specific event must have triggered the symptoms. Once the diagnosis is made, the first step is to make the child feel safe by getting support from parents, friends, and school, and by minimizing the chance of another traumatic event to the extent possible. Psychotherapy in which the child can speak, draw, play, or write about the stressful. Behavior therapy, specifically cognitive-behavioral therapy, helps children learn to change thoughts and feelings by first changing behavior in order to reduce the fear or worry.  Medication may also be used to.  Even though PTSD treatments work, most people who have PTSD don’t get the help they need. June is PTSD Awareness Month. Help spread the word that effective PTSD treatments are available.“.

Centers for Disease Control and Prevention – CDC (https://www.cdc.gov)

“Posttraumatic stress disorder (PTSD) is a mental health problem. PTSD can only develop after you go through or see a life-threatening event. It’s normal to have stress reactions to these types of events, and most people start to feel better after a few weeks or months. Learn about PTSD symptoms and treatments to help you get better. There are currently about 8 million people in the United States with PTSD.”.

U.S. Dept of Veterans Affairs (https://www.ptsd.va.gov)

“Alice in Wonderland syndrome (AIWS) is a rare neurological disorder characterized by distortions of visual perception (metamorphopsias), the body image, and the experience of time, along with derealization and depersonalization. Some 85% of patients present with perceptual distortions in a single sensory modality, e.g., only visual or only somesthetic in nature. Moreover, the majority experience only a single type of distortion, e.g., only micropsia or only macropsia. AIWS has many different etiologies, and hence an extensive differential diagnosis. Its amenability to treatment depends on the underlying pathological process, which in children is mostly encephalitis, and in adults, migraine.”.

Frontiers in Neurology (https://www.frontiersin.org).

“Alice in Wonderland syndrome (AWS) is a rare neurological disorder. It causes changes in visual perception, body image, and experience of time. ”

healthline (https://www.healthline.com/health/alice-in-wonderland-syndrome)

“Seek immediate care if a hernia bulge turns red, purple or dark or if you notice any other signs or symptoms of a strangulated hernia.

See your doctor if you have a painful or noticeable bulge in your groin on either side of your pubic bone. The bulge is likely to be more noticeable when you’re standing, and you usually can feel it if you put your hand directly over the affected area.”

MAYO CLINIC

“The longevity gap is responsible for the striking demographic characteristics of older Americans. More than half of all women older than 65 are widows, and widows outnumber widowers by at least three to one. At age 65, for every 100 American women, there are only 77 men.  Men die younger than women, and they are more burdened by illness during life. They fall ill at a younger age and have more chronic illnesses than women. For example, men are nearly 10 times more likely to get inguinal hernias than women, and five times more likely to have aortic aneurysms. American men are about four times more likely to be hit by gout; they are more than three times more likely than women to develop kidney stones, to become alcoholics, or to have bladder cancer. And they are about twice as likely to suffer from emphysema or a duodenal ulcer. Although women see doctors more often than men, men cost our society much more for medical care beyond age 65.”.

Harvard Health Publishing – Harvard Medical School (https://www.health.harvard.edu)