eye disorders
Retinitis Pigmentosa
Introduction
Retinitis pigmentosa is a slowly progressive, bilateral degeneration of the retina and retinal pigment epithelium caused by various genetic mutations. Symptoms include night blindness and loss of peripheral vision. Diagnosis is by funduscopy, which shows pigmentation in a bone-spicule configuration in the equatorial retina, narrowing of the retinal arterioles, a waxy pallor of the optic disk, posterior subcapsular cataracts, and cells in the vitreous. Electroretinography helps confirm the diagnosis.Vitamin Apalmitate, omega-3 fatty acids, and lutein plus zeaxanthin may help slow progression of vision loss. Abnormal gene coding for retinal proteins appears to be the cause of retinitis pigmentosa; several genes have been identified. Transmission may be autosomal recessive, autosomal dominant, or, infrequently, X-linked. It may occur as part of a syndrome (eg, Bassen-Kornzweig, Laurence-Moon). One of these syndromes includes congenital hearing loss as well (Usher syndrome). 