Nancy Huynh Brett G Jeffrey Amy Turriff Paul A Sieving Catherine A Cukras
10.3109/13816810.2013.865762
Ophthalmic Genet
2014 Mar;35(1):51-6.
author_manuscript
https://pubmed.ncbi.nlm.nih.gov/24397708/
ATP-Binding Cassette Transporters / genetics Eye Diseases, Hereditary / complications Genetic Diseases, X-Linked / complications Mutation, Missense Myopia / complications Night Blindness / complications Receptors, Glutamate / genetics
ATP-Binding Cassette Transporters / genetics Eye Diseases, Hereditary / complications Genetic Diseases, X-Linked / complications Mutation, Missense Myopia / complications Night Blindness / complications Receptors, Glutamate / genetics Case Reports Research Support, N.I.H., Extramural Color Vision / physiology Electroretinography Eye Diseases, Hereditary / diagnosis Eye Diseases, Hereditary / genetics Female Genetic Diseases, X-Linked / diagnosis Genetic Diseases, X-Linked / genetics Humans Macular Degeneration / complications Macular Degeneration / diagnosis Macular Degeneration / genetics Middle Aged Myopia / diagnosis Myopia / genetics Night Blindness / diagnosis Night Blindness / genetics Open Reading Frames / genetics Polymerase Chain Reaction Stargardt Disease Tomography, Optical Coherence Visual Acuity / physiology Visual Fields / physiology ABCA4 protein, human ATP-Binding Cassette Transporters GRM6 protein, human Receptors, Glutamate Night blindness, congenital stationary
PMC8325388
24397708
Sorting out co-occurrence of rare monogenic retinopathies: Stargardt disease co-existing with congenital stationary night blindness
2014