ABCMdb

PMID: 25342620

Sanchez-Alcudia R, Corton M, Avila-Fernandez A, Zurita O, Tatu SD, Perez-Carro R, Fernandez-San Jose P, Lopez-Martinez MA, del Castillo FJ, Millan JM, Blanco-Kelly F, Garcia-Sandoval B, Lopez-Molina MI, Riveiro-Alvarez R, Ayuso C
Contribution of mutation load to the intrafamilial genetic heterogeneity in a large cohort of Spanish retinal dystrophies families.
Invest Ophthalmol Vis Sci. 2014 Oct 23;55(11):7562-71. doi: 10.1167/iovs.14-14938., [PubMed]

Sentences

No. Mutations Sentence Comment

63 ABCA4 p.Arg149Trp The novel variant p.Arg149Trp was found in homozygosis in the TULP1 gene. Login to comment 79 ABCA4 p.Asn1805Asp ABCA4 p.Asn1805Asp Continued Family Subfamily ID Gene Mutations References First Symptoms and Course Age of Ophthalmic Evaluation, y BCVA RE/LE Visual Field RE/LE ERG Fundus Aspect Additional Findings RP-0622 III:1 C2ORF71 p.I210F/p.I210F 25 NB (18 y), diminished VA (25 y) and VF (26 y) 27 0.4/0.1 Absolute scotoma RE Abolished Pale optic disc, retina vessels attenuation and bone spicule pigmentation, macular unstructured and atrophy in left macula Color alteration, cataract (27 y) II:7 BBS1 p.M390R/ p.M390R 38 NB (3 y), diminished VA (3 y) and VF (3 y) 3 ND ND ND ND Polydactyly, intellectual disability RP-0280 II:1 ABCA4 p.N1805D/ p.N1805D 39 No NB or restriction of VF, loss of VA 26 0.1/0.1 No restriction Slightly reduced amplitude for rod, mixed cone-rod, cone single flash, and cone flicker Maculopathy with RPE atrophy, hyperpigmentation, few central yellowish flecks, slight temporal papillary pallor, no constriction of retinal vessels Photophobia, myopia, and astigmatism (14 y) II:4 CRB1 p.C948Y/ p.W822* 37,36 NB (14 y), diminished VF (2 y), and reduction central VA (14 y) 14 0.1/0.2 Concentrically constricted with small remaining central and nasal islands (<108) Not discernible from noise anymore Roundish pigments distributed across the entire retina, including peripheral retina, posterior pole, and macular region Hyperopia, astigmatism, and nystagmus ID, identification; BCVA, best corrected visual acuity; OD, right eye; OS, left eye; NB, night blindness; ND, no data; NR, nonrecordable; CF, counting fingers; LP, light perception. Login to comment 104 ABCA4 p.Arg1129Leu Clinical Findings in Patients Showing Intrafamilial Variability due to Different Mutations in the Same RD Gene Family Subfamily ID Gene Mutations References First Symptoms and Course Age of Ophthalmic Evaluation, y BCVA RE/LE Visual Field RE/LE ERG Fundus Aspect Additional Findings RP-0714 II:3 ABCA4 c.4253&#fe;4C>T/ c.4253&#fe;4C>T 43 NB (30 y), diminished VA (10 y), diminished VF (30 y) 40 0.1/ 0.1 Central scotoma ND ND Photophobia III:3 ABCA4 c.4253&#fe;4C>T/ p.R1129L 43, 44 Diminished VA (22 y) 22 ND ND ND ND Photophobia RP-0069 Subfamily-1 IV:3 CRB1 p.C948Y/ p.C948Y 37 NB birth, diminished VA (30 y), diminished VF (20 y) 48 Amaurosis Absolute scotoma NR Difficult to evaluate due to leukoma Nystagmus, dense cataracts, corneal leukoma secondary to keratoconus, microphtalmus IV:7 CRB1 p.C948Y/ p.C948Y 37 NB (12 y), diminished VF (12 y) 55 Amaurosis Absolute scotoma NR Difficult to evaluate due to leukoma Nystagmus, dense cataracts, corneal leukoma secondary to keratoconus. Login to comment 111 ABCA4 p.Arg1129Leu In the genotyping chip, c.4253&#fe;4C>T mutation in the ABCA4 gene, putatively affecting splicing, was found in the mother (in homozygosis) and in her daughter (in compound heterozygosity with a second mutation not present in her mother, p.Arg1129Leu). Login to comment