ABCMdb

PMID: 23329737

Burton DS, Ali M, McKibbin M
Retinal phenotypes in patients homozygous for the G1961E mutation in the ABCA4 gene.
Invest Ophthalmol Vis Sci. 2013 Jan 17;54(1):520. doi: 10.1167/iovs.12-11472., [PubMed]

Sentences

No. Mutations Sentence Comment

0 ABCA4 p.Gly1961Glu ABCA4 p.Gly1961Glu ABCA4 p.Gly1961Glu Letters Retinal Phenotypes in Patients Homozygous for the G1961E Mutation in the ABCA4 Gene We read with great interest the article by Burke et al., ''Retinal Phenotypes in Patients Homozygous for the G1961E Mutation in the ABCA4 Gene.``1 The article, which describes a series of 12 patients and the range of ocular phenotypes associated with homozygosity for the G1961E mutation in the ABCA4 gene, concludes that the phenotype is usually at the milder end of the disease spectrum and with a later onset of visual symptoms than would be typically seen in Stargardt disease. Login to comment 7 ABCA4 p.Gly1961Glu However, genetic analysis subsequently identified heterozygous mutations in the ABCA4 gene, that is, G1961E and a novel splice site mutation (c.3328&#fe;1G>C). Login to comment 8 ABCA4 p.Gly1961Glu An earlier study by Cella et al.2 reported the phenotype of patients who were both heterozygous and homozygous for the G1961E mutation. Login to comment 10 ABCA4 p.Gly1961Glu The phenotype for the heterozygous cases is similar to that reported by Simonelli and colleagues.3 Collectively, these reports suggest that there may not be a meaningful difference in the phenotype and specifically the age of onset between homozygous and heterozygous carriers of the G1961E mutation. Login to comment 13 ABCA4 p.Gly1961Glu Burke TR, Fishman GA, Zernant J, et al. Retinal phenotypes in patients homozygous for the G1961E mutation in the ABCA4 gene. Login to comment 16 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