X-linked juvenile retinoschisis in a consanguineous family: phenotypic variability and report of a homozygous female patient. [electronic resource]
- Retina (Philadelphia, Pa.) Dec 2014
- 2472-8 p. digital
Publication Type: Case Reports; Journal Article
1539-2864
10.1097/IAE.0000000000000243 doi
Adult Consanguinity DNA Mutational Analysis Electroretinography Eye Proteins--genetics Female Fluorescein Angiography Homozygote Humans Male Middle Aged Mutation Pedigree Phenotype Polymerase Chain Reaction Retinal Pigments--genetics Retinoschisis--diagnosis Tomography, Optical Coherence Young Adult