ABCMdb

PMID: 15019334

Klevering BJ, Maugeri A, Wagner A, Go SL, Vink C, Cremers FP, Hoyng CB
Three families displaying the combination of Stargardt's disease with cone-rod dystrophy or retinitis pigmentosa.
Ophthalmology. 2004 Mar;111(3):546-53., [PubMed]

Sentences

No. Mutations Sentence Comment

31 ABCA4 p.Gly1961Glu ABCA4 p.Asp2177Asn 546 (c) 2004 by the American Academy of Ophthalmology ISSN 0161-6420/04/$-see front matter Published by Elsevier Inc. doi:10.1016/j.ophtha.2003.06.010 study (D2177N and G1961E) were evaluated in a larger investigation including 1218 unrelated AMD patients and 1258 comparison individuals. Login to comment 32 ABCA4 p.Gly1961Glu ABCA4 p.Asp2177Asn The 2 sequence changes were found in 3.4% of the AMD patients and in approximately 0.95% of the control subjects, and it was concluded that the risk of AMD is elevated approximately 3-fold in D2177N carriers and approximately 5-fold in G1961E carriers.14 Other groups, however, could not find a significant difference in the prevalence of heterozygous ABCA4 mutations in exudative and dry AMD patients and control groups, although the numbers of individuals analyzed in these studies were smaller.15-20 In the proposed genotype-phenotype model for ABCA4 there is an inverse relationship between the presumed residual ABCA4 function and the severity of the retinal dystrophy.2,6,21 Because different combinations of ABCA4 mutations lead to different phenotypes, this model implicitly predicts the occurrence of families harboring different types of ABCA4-associated retinal disorders.2,3,6,7 In this study, we present the clinical and genetic findings in 3 families with multiple ABCA4-associated retinal disorders. Login to comment