Clinical Heterogeneity of Hereditary Optic Atrophy in a Turkish Family

Abstract

Purpose: To present detailed clinical findings of a Turkish family from central Anatolia with a hereditary form of optic atrophy. Design: Observational case series. Material and methods: A detailed family history of a patient with optic atrophy revealed similarly affected family members. Nine members of this consanguineous family were evaluated. The OPA1 gene of seven of the nine individuals was screened for mutations using direct DNA sequencing. Results: No mutation was found in the OPA1 gene. Four females were clinically affected, two of whom had previous diagnoses of glaucoma. Affected family members demonstrated abnormal findings in at least one of the following: optic disk, visual field, or color vision. Myopia, oblique insertion of the optic nerve, marginal pigmentation of the optic nerve head, and entry and exit anomalies of central retinal vessels were additional findings. Conclusion: This family demonstrates a highly variable expression of a form of hereditary optic atrophy, ranging from asymptomatic involvement to legal blindness. It is important for doctors to look for subtle but typical optic disk, visual field, and color vision anomalies in asymptomatic members when screening such families.

KEYWORDS:

• Hereditary optic neuropathy
• autosomal dominant optic atrophy
• autosomal recessive optic atrophy
• OPA1 gene