Leber Congenital Amaurosis (LCA) is a congenital form of retinitis pigmentosa. This means that most babies with LCA already have poor eyesight at birth, which may cause nystagmus, a constant involuntary shaking or twitching of the eyes. Some infants with LCA have fairly good central vision in early childhood, but vision tends to get slowly worse over time. There are at least 19 genes that can cause LCA, and genetic testing is readily available. Genetic testing is important in this disorder because one type of LCA, caused by the RPE65 gene, has had promising results in a clinical trial of gene therapy. This has improved functional vision in many patients in the trial. Another important reason to get genetic testing for LCA is that some genetic subtypes can also cause kidney failure. When kidney dysfunction is present in LCA it is sometimes called Senior Loken Syndrome. Early identification of people at risk for kidney failure can lead to early treatment.
Foundation Fighting Blindness: Leber's Congenital Amaurosis
AAPOS: Leber's Congenital Amaurosis
National Organization for Rare Disorders: Senior Loken Syndrome
Research to Prevent Blindness
The John and Marcia Carver Nonprofit Genetic Testing Laboratory