ABCMdb

PMID: 15223829

Kang Derwent JJ, Derlacki DJ, Hetling JR, Fishman GA, Birch DG, Grover S, Stone EM, Pepperberg DR
Dark adaptation of rod photoreceptors in normal subjects, and in patients with Stargardt disease and an ABCA4 mutation.
Invest Ophthalmol Vis Sci. 2004 Jul;45(7):2447-56., [PubMed]

Sentences

No. Mutations Sentence Comment

53 ABCA4 p.Gly1961Glu ABCA4 p.Gly1961Glu ABCA4 p.Gly1961Glu ABCA4 p.Ala1038Val ABCA4 p.Leu541Pro ABCA4 p.Arg2107His ABCA4 p.Arg2077Trp ABCA4 p.Val849Ala ABCA4 p.Ala60Val Description of Subjects Subject Number Age* Sex ABCA4 Variation Dark-Adapted Maximum Peak a-Wave Amplitude (␮V)† Normal subjects 101 55 M - -243 102 37 F - -410 103 26 M - -188 104 23 F - -397 105 56 F - -268 111 29 F - -362 112 23 M - -410 -325 Ϯ 91 Stargardt patients 106 50 F val849ala, arg2107his -201 107 41 M gly1961glu, arg2077trp -306 108 22 M ala60val, 1 bp ins codon 1513 -82 109 34 M leu541pro/ala1038val,‡ gly1961glu -277 110 51 M gly1961glu -191 -211 Ϯ 87 * Age on the date of determination of the a-wave result shown in the right-hand column. Login to comment 56 ABCA4 p.Ala1038Val ABCA4 p.Leu541Pro ‡ leu541pro and ala1038val are commonly found together on the same allele. Login to comment 78 ABCA4 p.Gly1961Glu ABCA4 p.Ala1038Val All of the allelic variations in the ABCA4 gene found in these patients are significantly more prevalent in patients with Stargardt disease than in the normal population.24 The ala1038val and gly1961glu alleles are relatively common in Stargardt disease and may have altered frequencies in different populations as a result of founder effects.31 FIGURE 2. Login to comment