ABCMdb

PMID: 22466470

Leng T, Marmor MF, Kellner U, Thompson DA, Renner AB, Moore W, Sowden JC
Foveal cavitation as an optical coherence tomography finding in central cone dysfunction.
Retina. 2012 Jul;32(7):1411-9., [PubMed]

Sentences

No. Mutations Sentence Comment

45 ABCA4 p.Arg1640Trp Clinical Characteristics of Patients with Foveal Outer Segment Cavitation Case Sex Age BCVA Duration of Symptoms (Years) FAF Color Dysfunction* ERG mfERG Genetic Testing OD OS ABCA4 CNGB3 1 F 27 20/150 20/150 2 Small oval of reduced FAF surrounded by increased FAF Mild Rods: normal Cones: normal Not done Not done Not done 2 F 10 20/100 20/80 2 Small oval of reduced FAF surrounded by increased FAF Mild Rods: normal Cones: reduced amplitudes and increased implicit times Reduced amplitude centrally One allele: c.4918C.T (p.Arg1640Trp) (heterozygous) No mutations 3 M 19 20/60 20/50 10 Small oval of reduced FAF Mild Rods: normal Cones: mild decrease in amplitude in OD, normal OS Reduced amplitude centrally No mutations Not done 4 F 16 20/50 20/50 1.5 Small oval of reduced FAF surrounded by increased FAF Mild Rods: normal Cones: normal. Login to comment 46 ABCA4 p.Gly1961Glu Nine months later: rod and cone amplitudes smaller, but still normal and implicit times increased, but still normal Reduced amplitude centrally Two alleles: c.1584C.A (p.Tyr528X) c.5882G.A (p.Gly1961Glu). Login to comment 47 ABCA4 p.Gly1961Glu No mutations (also negative for ELOVL4) 5 M 15 20/40 20/40 4 Small oval of reduced FAF surrounded by increased FAF Mild Rods: normal Cones: reduced amplitudes Not done One allele: c.5882G.A (p.Gly1961Glu) (heterozygous) No mutations 6 M 52 20/80 20/60 2 Foveal stippling surrounded by increased FAF Mild Rods: normal Cones: reduced amplitudes and increased implicit times Reduced amplitude centrally Not done Not done 7 M 50 CF (amblyopic) 20/32 38 Foveal stippling surrounded by increased FAF Not done Rods: reduced amplitudesCones: reduced amplitudes and slightly increased implicit times; OD worse than OS Reduced amplitude across posterior pole No mutations No mutations 8 M 49 20/200 20/200 31 Small parafoveal ring of increased FAF Not done Not done Not done Not done Not done *Testing with Farnsworth D-15 Test: all cases were normal with the standard test, but made irregular errors with the desaturated test. Login to comment 88 ABCA4 p.Gly1961Glu ABCA4 p.Ala1038Val ABCA4 p.Leu541Pro Previous reports by Cella et al10 and by Gomes et al11 describe cases of ABCA4 mutations involving L541P/ A1038V and G1961E. Login to comment 90 ABCA4 p.Gly1961Glu ABCA4 p.Ala1038Val ABCA4 p.Leu541Pro Cella et al10 proposed that the G1961E allele in either homozygosity or heterozygosity is associated with anatomical and functional pathologies limited to the parafoveal region; however, this mutation was present as a heterozygous mutation in only 2 of 5 cases tested (Cases 4 and 5) and L541P/A1038V was not present. Login to comment