Clinical Heterogeneity of Hereditary Optic Atrophy in a Turkish Family

Autor:	Pascal Reynier, Yasemin Alanay, Patrizia Amati-Bonneau, Gamze Men, Golge Acaroglu
Rok vydání:	2005
Předmět:	Pathology medicine.medical_specialty genetic structures business.industry Color vision Optic disk Glaucoma medicine.disease Hereditary Optic Atrophy eye diseases Visual field Ophthalmology Atrophy Optic nerve Medicine sense organs Neurology (clinical) Family history business
Zdroj:	Neuro-Ophthalmology. 29:9-15
ISSN:	1744-506X 0165-8107
DOI:	10.1080/01658100490900719
Popis:	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 asymptom...
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_________::4ae83b7a9779fd18cf19fbb0c173ce03 https://doi.org/10.1080/01658100490900719 Zobrazit plný text záznamu Plný text ve formátu PDF Plný text ve formátu HTML
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