ABCMdb

PMID: 24265018

Fujinami K, Lois N, Mukherjee R, McBain VA, Tsunoda K, Tsubota K, Stone EM, Fitzke FW, Bunce C, Moore AT, Webster AR, Michaelides M
A longitudinal study of Stargardt disease: quantitative assessment of fundus autofluorescence, progression, and genotype correlations.
Invest Ophthalmol Vis Sci. 2013 Dec 17;54(13):8181-90. doi: 10.1167/iovs.13-12104., [PubMed]

Sentences

No. Mutations Sentence Comment

131 ABCA4 p.Leu2027Phe Four of eight patients from eight families harboring the missense variant p.Leu2027Phe had small central atrophy (<0.18 mm2 ) at baseline (Supplementary Table S1). Login to comment 134 ABCA4 p.Gly1961Glu The median size of atrophy at baseline and the median RAE of the five patients from five families harboring the missense variant p.Gly1961Glu also was relatively small; 0.47 mm2 and 0.20 mm2 /y respectively (Supplementary Table S1). Login to comment 167 ABCA4 p.Gly1961Glu ABCA4 p.Gly1961Glu ABCA4 p.Leu2027Phe ABCA4 p.Leu2027Phe Consistent with previous reports, four of nine patients with the c.5461-10 T>C variant had a severe phenotype, with multiple large areas of atrophy.9,33,55,56 In contrast, there were three patients with the c.5461-10 T>C variant with a lower atrophy enlargement, all of whom also harbored missense variants (p.Gly1961Glu in one patient, and p.Leu2027Phe in the remaining two subjects); considered to be associated with a milder phenotype.2,10,54,56,57 The substitutions p.Leu2027Phe, and to a greater extent p.Gly1961Glu, also were associated with a milder AF phenotype in our study. Login to comment 390 ABCA4 p.Gly1961Glu Cella W, Greenstein VC, Zernant-Rajang J, et al. G1961E mutant allele in the Stargardt disease gene ABCA4 causes bull`s eye maculopathy. Login to comment