Recent advances in hereditary disease and neuro-ophthalmology.

Abstract

Recent advances in genetics tend to center on the discoveries of molecular biology. A disease is first linked to a region on a chromosome, a gene is later cloned, or a candidate gene identified, point mutations described, phenotype-genotype correlations made, and rationales for treatment proposed. Several neuro-ophthalmological diseases have recently been studied in this way; including Leber's hereditary optic neuropathy and other mitochondrial diseases, autosomal dominant (Kjer) optic atrophy, Wolfram syndrome, or DIDMOAD (diabetes insipidus, diabetes mellitus, optic atrophy, and deafness), Usher syndrome, neurofibromatosis types I and II, and two disorders of the paired box genes: aniridia..