ABCMdb

PMID: 18854780

Hwang JC, Zernant J, Allikmets R, Barile GR, Chang S, Smith RT
Peripapillary atrophy in Stargardt disease.
Retina. 2009 Feb;29(2):181-6., [PubMed]

Sentences

No. Mutations Sentence Comment

5 ABCA4 p.Pro1380Leu Case 1 revealed peripapillary and central atrophy with heterozygous ABCA4 mutations P1380L and IVS40 ϩ 5GϾA. Login to comment 6 ABCA4 p.Arg2030Gln ABCA4 p.Pro1380Leu ABCA4 p.Pro1380Leu ABCA4 p.Pro1380Leu Case 2 demonstrated atrophic fleck lesions involving the peripapillary region and central atrophy with homozygous ABCA4 mutations P1380L and P1380L. Case 3 revealed bilateral central atrophy and pisciform fleck atrophy involving the peripapillary, macular, and peripheral regions with ABCA4 mutations P1380L and R2030Q. Login to comment 7 ABCA4 p.Arg2030Gln ABCA4 p.Pro1380Leu Overall, ABCA4 mutation P1380L was noted in 13 cases (8.7%), IVS40 ϩ 5GϾA in 6 cases (4.0%), and R2030Q in 1 case (0.7%). Login to comment 8 ABCA4 p.Pro1380Leu The remaining cases shared one common STGD mutation with Case 1, 2, and 3 (P1380L or IVS40 ϩ 5GϾA) and demonstrated classic STGD findings of central atrophy and varying presence of peripheral flecks without peripapillary lesions. Login to comment 25 ABCA4 p.Pro1380Leu Genetic testing was employed for further diagnostic information and two heterozygous ABCA4 mutations, P1380L and IVS40 ϩ 5GϾA, were identified and classified as disease-causing alleles, thereby confirming the diagnosis of STGD. Login to comment 32 ABCA4 p.Pro1380Leu STGD with peripapillary atrophy and mutations P1380L and IVS40 ϩ 5GϾA. Login to comment 41 ABCA4 p.Pro1380Leu ABCA4 p.Pro1380Leu Genotyping revealed homozygous ABCA4 mutations, P1380L and P1380L. Case 3 A 15-year-old female presented with complaints of difficulty reading materials held greater than 6 inches from her eyes. Login to comment 47 ABCA4 p.Arg2030Gln ABCA4 p.Pro1380Leu Genotyping was significant for ABCA4 mutations P1380L and R2030Q. Login to comment 55 ABCA4 p.Pro1380Leu ABCA4 p.Ser1696Asn Genotyping revealed two heterozygous ABCA4 mutations, P1380L and S1696N. Login to comment 61 ABCA4 p.Pro1380Leu ABCA4 p.Pro1380Leu STGD mutations P1380L and P1380L. Login to comment 65 ABCA4 p.Arg2030Gln ABCA4 p.Pro1380Leu STGD mutations P1380L and R2030Q. Login to comment 73 ABCA4 p.Arg1108Cys Genetic testing revealed a single ABCA4 mutation R1108C. Login to comment 87 ABCA4 p.Pro1380Leu Case 1 demonstrated peripapillary and central atrophy in a mildly myopic patient with ABCA4 mutations P1380L and IVS40 ϩ 5GϾA. Login to comment 88 ABCA4 p.Arg2030Gln ABCA4 p.Pro1380Leu ABCA4 p.Pro1380Leu ABCA4 p.Pro1380Leu Case 2 demonstrated atrophic fleck lesions involving the peripapillary region, central atrophy, and homozygous ABCA4 mutations P1380L and P1380L. Case 3 revealed bilateral central atrophy and pisciform fleck atrophy involving the peripapillary, macular, and peripheral regions with ABCA4 mutations P1380L and R2030Q. Login to comment 92 ABCA4 p.Arg2030Gln ABCA4 p.Pro1380Leu Overall, ABCA4 mutation P1380L was noted in 13 cases (8.7%), IVS40 ϩ 5GϾA in 6 cases (4.0%), and R2030Q in 1 case (0.7%). Login to comment 93 ABCA4 p.Arg2030Gln ABCA4 p.Pro1380Leu ABCA4 p.Pro1380Leu ABCA4 p.Pro1380Leu ABCA4 p.Pro1380Leu ABCA4 p.Pro1380Leu Cases 4 and 5 share common ABCA4 mutations with cases 1, 2, and 3 (P1380L or IVS40 ϩ 5GϾA), but did not yield findings of peripapillary atrophy. We were unable to find any previous reports in the literature of peripapillary atrophy in STGD, compound heterozygous ABCA4 mutations P1380L and IVS40 ϩ 5GϾA, clinical descriptions of homozygous mutations P1380L and P1380L, or clinical descriptions of compound heterozygous mutations P1380L and R2030Q. Login to comment 99 ABCA4 p.Pro1380Leu ABCA4 p.Ser1696Asn STGD mutations P1380L and S1696N. Login to comment 102 ABCA4 p.Arg2030Gln ABCA4 p.Pro1380Leu ABCA4 p.Pro1380Leu ABCA4 p.Pro1380Leu ABCA4 p.Pro1380Leu ABCA4 p.Pro1380Leu ABCA4 p.Ser1696Asn Summary of Findings Case Number ABCA4 Mutation(s) Confirming Stargardt Disease Peripapillary Atrophy BCVA Age of Onset (yrs) Duration of Disease (yrs)OD OS 1 P1380L IVS40 ϩ 5GϾA Yes 20/400 20/400 29 16 2 P1380L P1380L Yes 20/40 20/150 18 1 3 P1380L R2030Q Yes 20/150 20/150 8 6 4 P1380L S1696N No 20/150 20/70 45 7 5 IVS40 ϩ 5GϾA - No 20/400 20/400 17 28 BCVA, best-corrected visual acuity. Login to comment