Article
Autosomal recessive 'optic atrophy' with late onset and evidence of ganglion cell dysfunction: a sibship of two females.
Ophthalmologica. Journal international d'ophtalmologie. International journal of ophthalmology. Zeitschrift fur Augenheilkunde - 1 Jan 1993
Phillips C I, Mackintosh G I, Howe J W, Mitchell K W
Abstract excerpt
Two sisters aged about 40 years presented with a recent moderate reduction in visual acuity and pale optic discs. The nonconsanguineous parents, 7 other siblings and all other family members have normal vision. This strongly indicates a hereditary, autosomal recessive origin. A primary ganglion c...
Topics
- Adult
- Age of Onset
- Electroretinography
- Evoked Potentials, Visual
- Female
- Genes, Recessive
- Humans
- Mutation
- Optic Atrophy
- Pedigree
- Retinal Ganglion Cells