Phenotyping of ABCA4 Retinopathy by Machine Learning Analysis of Full-Field Electroretinography.
Translational Vision Science & Technology
Glinton, Sophie L SL; Calcagni, Antonio A; Lilaonitkul, Watjana W; Pontikos, Nikolas N; Vermeirsch, Sandra S; Zhang, Gongyu G; Arno, Gavin G; Wagner, Siegfried K SK; Michaelides, Michel M; Keane, Pearse A PA; Webster, Andrew R AR; Mahroo, Omar A OA; Robson, Anthony G AG
Publication Date: 2022-09-01
Variant appearance in text: ABCA4: 5114G>A; Arg1705Gln
Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.
American Journal Of Human Genetics
Wright, Caroline F CF; West, Ben B; Tuke, Marcus M; Jones, Samuel E SE; Patel, Kashyap K; Laver, Thomas W TW; Beaumont, Robin N RN; Tyrrell, Jessica J; Wood, Andrew R AR; Frayling, Timothy M TM; Hattersley, Andrew T AT; Weedon, Michael N MN
Frequent hypomorphic alleles account for a significant fraction of ABCA4 disease and distinguish it from age-related macular degeneration.
Journal Of Medical Genetics
Zernant, Jana J; Lee, Winston W; Collison, Frederick T FT; Fishman, Gerald A GA; Sergeev, Yuri V YV; Schuerch, Kaspar K; Sparrow, Janet R JR; Tsang, Stephen H SH; Allikmets, Rando R
Inner and outer retinal changes in retinal degenerations associated with ABCA4 mutations.
Investigative Ophthalmology & Visual Science
Huang, Wei Chieh WC; Cideciyan, Artur V AV; Roman, Alejandro J AJ; Sumaroka, Alexander A; Sheplock, Rebecca R; Schwartz, Sharon B SB; Stone, Edwin M EM; Jacobson, Samuel G SG
Macular function in macular degenerations: repeatability of microperimetry as a potential outcome measure for ABCA4-associated retinopathy trials.
Investigative Ophthalmology & Visual Science
Cideciyan, Artur V AV; Swider, Malgorzata M; Aleman, Tomas S TS; Feuer, Willam J WJ; Schwartz, Sharon B SB; Russell, Robert C RC; Steinberg, Janet D JD; Stone, Edwin M EM; Jacobson, Samuel G SG
Macular pigment and lutein supplementation in ABCA4-associated retinal degenerations.
Investigative Ophthalmology & Visual Science
Aleman, Tomas S TS; Cideciyan, Artur V AV; Windsor, Elizabeth A M EA; Schwartz, Sharon B SB; Swider, Malgorzata M; Chico, John D JD; Sumaroka, Alexander A; Pantelyat, Alexander Y AY; Duncan, Keith G KG; Gardner, Leigh M LM; Emmons, Jessica M JM; Steinberg, Janet D JD; Stone, Edwin M EM; Jacobson, Samuel G SG