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Article

Clinical and genetic analysis of a family affected with dominant optic atrophy (OPA1)

Archives of ophthalmology (Chicago, Ill. : 1960) - 1 Jan 1997

Brown J, Fingert J H, Taylor C M, Lake M, Sheffield V C, Stone E M

Abstract excerpt

OBJECTIVES: To refine the dominant optic atrophy locus, OPA1, on chromosome 3q and to characterize the phenotype of a 6-generation family pedigree affected with this disease. METHODS: Fifty-six family members had a complete eye examination. Clinical records of an additional 3 patients were reviewed. Goldmann perimetry and a 21-chip subtest of the Farnsworth-Munsell 100-Hue test were performed on selected...

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Source

Identifiers

PMID: 9006432
DOI: 10.1001/archopht.1997.01100150097016

Genes

OPA1

Provenance

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Source receipt: pubmed, retrieved 7 Sept 2026.

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Clinical and genetic analysis of a family affected with dominant optic atrophy (OPA1)PMID 9006432Read ↗

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The prevalence and natural history of dominant optic atrophy due to OPA1 mutations.Semantic proximity Read ↗

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Dominant optic atrophy: novel OPA1 mutations and revised prevalence estimates.Semantic proximity Read ↗

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