ABCMdb

PMID: 19406377

Pasadhika S, Fishman GA, Allikmets R, Stone EM
Peripapillary retinal nerve fiber layer thinning in patients with autosomal recessive cone-rod dystrophy.
Am J Ophthalmol. 2009 Aug;148(2):260-265.e1. Epub 2009 May 5., [PubMed]

Sentences

No. Mutations Sentence Comment

60 ABCA4 p.Ala1038Val ABCA4 p.Leu541Pro ABCA4 p.Cys54Tyr ABCA4 p.Val989Ala ABCA4 p.Val767Asp Age (years) Gender Race Genetic Testing Results for the ABCA4 Gene Visual Acuity Fundus Findings Right Eye Left Eye Macula Pigmentation 1 60 Female White IVS40ϩ5 G¡A & cys54tyr exon 3, heterozygous 20/400 20/400 Pigment clumping Posterior pole, midperiphery 2 59 Female White glu328stop exon 8 & val767asp, heterozygous 3/200 3/400 Pigment clumping Posterior pole, midperiphery 3 44 Male White ala1038val exon 21 & leu541pro exon 12, heterozygousa 5/400 5/200 Pigment clumping Periphery 4 54 Female Black val989ala exon 20, heterozygous 20/400 CF Pigment clumping Posterior pole, peripapillary 5 42 Male Palestinian None detectedb 20/50 20/400 Drusen-like lesions, hypopigmentation - 6 45 Female Palestinian None detectedb 20/70 20/200 Drusen-like lesions, hypopigmentation - 7 63 Female Black None detectedb 20/200 20/200 Geographic atrophic lesions - 8 69 Female White No genetic testing 2/400 2/700 Pigment granularity - 9 62 Female White Pending 20/200 20/400 Bull`s-eye-like lesions - 10 16 Male White No genetic testing 10/300 10/200 Geographic atrophic lesions - 11 11 Male White No genetic testing 10/120 10/160 Bull`s-eye-like lesions and pigment granularity Few at midperiphery CF ϭ counting fingers. Login to comment 62 ABCA4 p.Ala1038Val ABCA4 p.Leu541Pro ABCA4 p.Cys54Tyr ABCA4 p.Val989Ala ABCA4 p.Val767Asp Age (years) Gender Race Genetic Testing Results for the ABCA4 Gene Visual Acuity Fundus Findings Right Eye Left Eye Macula Pigmentation 1 60 Female White IVS40af9;5 G&#a1;A & cys54tyr exon 3, heterozygous 20/400 20/400 Pigment clumping Posterior pole, midperiphery 2 59 Female White glu328stop exon 8 & val767asp, heterozygous 3/200 3/400 Pigment clumping Posterior pole, midperiphery 3 44 Male White ala1038val exon 21 & leu541pro exon 12, heterozygousa 5/400 5/200 Pigment clumping Periphery 4 54 Female Black val989ala exon 20, heterozygous 20/400 CF Pigment clumping Posterior pole, peripapillary 5 42 Male Palestinian None detectedb 20/50 20/400 Drusen-like lesions, hypopigmentation - 6 45 Female Palestinian None detectedb 20/70 20/200 Drusen-like lesions, hypopigmentation - 7 63 Female Black None detectedb 20/200 20/200 Geographic atrophic lesions - 8 69 Female White No genetic testing 2/400 2/700 Pigment granularity - 9 62 Female White Pending 20/200 20/400 Bull`s-eye-like lesions - 10 16 Male White No genetic testing 10/300 10/200 Geographic atrophic lesions - 11 11 Male White No genetic testing 10/120 10/160 Bull`s-eye-like lesions and pigment granularity Few at midperiphery CF afd; counting fingers. Login to comment