ABCMdb

PMID: 26311262

Noupuu K, Lee W, Zernant J, Greenstein VC, Tsang S, Allikmets R
Recessive Stargardt disease phenocopying hydroxychloroquine retinopathy.
Graefes Arch Clin Exp Ophthalmol. 2015 Aug 28., [PubMed]

Sentences

No. Mutations Sentence Comment

53 ABCA4 p.Gly1961Glu ABCA4 p.Gly1961Glu ABCA4 p.Arg2107His ABCA4 p.Arg2107His ABCA4 p.Arg602Trp ABCA4 p.Arg2106Cys ABCA4 p.Arg1108Cys ABCA4 p.Glu526Ala ABCA4 p.Ala1357Val [5461-10T > C] P2 55, F White 20/20 20/20 Mottling + flecks Mottling + flecks p. [A1357V]; [G1961E] P3 57, M African-American 20/20 20/20 BEM + flecks BEM + flecks p. [R2107H] P4 10, F White 20/30 20/25 BEM + flecks BEM + flecks p. [E160*]; [R1108C] P5 26, F African-American 20/30 20/20 Mottling + flecks Mottling + flecks p. [R2107H]; [E526A] P6 19, F Asian-Caucasian 20/25 20/25 BEM BEM p. [R602W] P7 26, M African-Arab 20/20 20/20 BEM BEM p. [R1300*]; [R2106C] P8 25, M White 20/20 20/40 BEM BEM p. [Q1003*]; [G1961E] Abbreviations: M male, F female, BCVA best-corrected visual acuity, OD right eye, OS left eye, BEM bull`s eye maculopathy Fig. 1 Thinning of the parafoveal region with relative foveal sparing presenting as the hydroxychloroquine retinopathy- associated parafoveal outer retina thinning phenotype in patients with recessive Stargardt disease (STGD1). Login to comment 94 ABCA4 p.Arg2030Gln Researchers exploring the role of genetic etiology in foveal sparing have reported that the ABCA4 variant p.R2030Q is more prevalent in these patients [9], although this rare variant was not found in our cohort. Login to comment 109 ABCA4 p.Arg2107His In fact, one of the two patients was homozygous for the missense mutation p.R2107H, but was thought to have HCQ maculopathy due to the classical appearance of this retinopathy in addition to the lack of dark choroid and flecks characteristic of STGD1. Login to comment 110 ABCA4 p.Arg2107His Interestingly, the p.R2107H mutation was also present in two of the eight patients with phenotypes resembling HCQ retinopathy in our study. Login to comment