Lebers Amaurosis in Three Siblings: A case report

Retinitis pigmentosa (RP) is the generic name for a group of hereditary disorders characterized by progressive loss of photoreceptors and RPE function. The classical triad of retinitis pigmentosa is arteriolar attenuation, retinal bone spicule pigmentation and waxy disc pallor. Lebers congenital amaurosis (LCA) is the hereditary form of retinitis pigmentosa. It presents with blindness either at birth or within the first few years of life. Unfortunately, very little can be done to improve the sight of patients with Lebers. The correct diagnosis, however, is essential. First, the ophthalmologist must do a differential diagnosis, to ensure that they are not excluding a disease which might benefit from optical interventions. Second, the parents must be educated on the prognosis and natural history of the disorder. Finally, the parents should be counselled to provide special education for these children to improve the quality of their lives.