Optic Atrophy 6 Clinical CharacteristicsOcular Features: Visual impairment is often noted under the age of 6 years. The disease is bilateral and loss of vision procedes slowly, eventually reaching 20/100 to 20/200. Moderate photophobia and dyschromatopsia are present but nystagmus is absent. The impact on the visual field seems to be minimal and limited to decreased sensitivity in the central areas. Systemic Features: No systemic abnormalities are associated. GeneticsEvidence for this presumed autosomal recessive type of optic atrophy is based on a single large, consanguineous French Canadian family. A locus in the 8q21-q22 region presumably containing the mutant gene, designated OPA6, was found. Linkage analysis excluded genes linked to autosomal dominant optic atrophy. Another autosomal recessive optic atrophy disorder (OPA7; 612989) has also been reported. Pedigree: Autosomal recessiveTreatmentTreatment Options: No treatment beyond low vision aids is helpful. ReferencesArticle Title: A first locus for isolated autosomal recessive optic atrophy (ROA1) maps to chromosome 8q Barbet F, Gerber S, Hakiki S, Perrault I, Hanein S, Ducroq D, Tanguy G, Dufier JL, Munnich A, Rozet JM, Kaplan J. A first locus for isolated autosomal recessive optic atrophy (ROA1) maps to chromosome 8q. Eur J Hum Genet. 2003 Dec;11(12):966-71. PubMed ID: 14508503 Read more about Optic Atrophy 6
A first locus for isolated autosomal recessive optic atrophy (ROA1) maps to chromosome 8q Barbet F, Gerber S, Hakiki S, Perrault I, Hanein S, Ducroq D, Tanguy G, Dufier JL, Munnich A, Rozet JM, Kaplan J. A first locus for isolated autosomal recessive optic atrophy (ROA1) maps to chromosome 8q. Eur J Hum Genet. 2003 Dec;11(12):966-71. PubMed ID: 14508503
