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Abstract
Hereditary degenerations of the human retina are genetically heterogeneous, with well
over 100 genes implicated so far. This Seminar focuses on the subset of diseases called
retinitis pigmentosa, in which patients typically lose night vision in adolescence,
side vision in young adulthood, and central vision in later life because of progressive
loss of rod and cone photoreceptor cells. Measures of retinal function, such as the
electroretinogram, show that photoreceptor function is diminished generally many years
before symptomic night blindness, visual-field scotomas, or decreased visual acuity
arise. More than 45 genes for retinitis pigmentosa have been identified. These genes
account for only about 60% of all patients; the remainder have defects in as yet unidentified
genes. Findings of controlled trials indicate that nutritional interventions, including
vitamin A palmitate and omega-3-rich fish, slow progression of disease in many patients.
Imminent treatments for retinitis pigmentosa are greatly anticipated, especially for
genetically defined subsets of patients, because of newly identified genes, growing
knowledge of affected biochemical pathways, and development of animal models.