Gliem, Martin

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