Dominant optic atrophy: Refining the clinical diagnostic criteria in light of genetic linkage studies

• Published in: Ophthalmology (Rochester, Minn.) Vol. 106; no. 1; pp. 123 - 128
• Main Authors: Johnston, Robert L, Seller, Mary J, Behnam, Joseph T, Burdon, Michael A, Spalton, David J
• Format: Journal Article
• Language: English
• Published: New York, NY Elsevier Inc 1999; Elsevier
• Subjects: Adolescent; Adult; Aged; Aged, 80 and over; Biological and medical sciences; Child; Chromosomes, Human, Pair 3 - genetics; Diseases of visual field, optic nerve, optic chiasma and optic tracts; DNA - analysis; Genes, Dominant - genetics; Genetic Linkage; Genotype; Haplotypes; Humans; Medical sciences; Middle Aged; Ophthalmology; Optic Atrophies, Hereditary - diagnosis; Optic Atrophies, Hereditary - genetics; Pedigree; Visual Acuity; Human; Nervous system diseases; Linkage; Optic nerve; Family study; Ophthalmoscopy; Visual acuity; Atrophy; Symptomatology; Eye disease; Cranial nerve disease; Color vision; Dominant character; Clinical investigation; Diagnosis; Optic papilla; Technique

To describe the clinical findings and refine the clinical diagnostic criteria for dominant optic atrophy based on eight British families in which the diagnosis was confirmed by linkage analysis. Case series; 92 subjects in 8 pedigrees had both eyes examined. Family members received a domiciliary exa...