Visual Impairment
Product NameApplicationRegion
P027-Uveal melanoma Uveal melanoma 1p, chr.3, 6p, 8q
P047-RB1 Retinoblastoma (RB) RB1 13q14
P054-FOXL2-TWIST1 Ophthalmogenetic anomalies FOXL2 , TWIST1, FOXC1, FOXC2, ATR, PITX2, GPR143
P065-Marfan-1 Marfan syndrome FBN1 15q21.1, TGFBR2 3p22
P066-Marfan-2 Marfan syndrome FBN1 15q21.1
P092-ABCC6 Pseudoxanthoma elasticum ABCC6 16p13.11
P151-ABCA4 mix-1 Stargardt, Macular dystrophy, Retinitis pigmentosa, age-related macular degeneration, cone rod dystrophies ABCA4 (ABCR) 1p22.1
P152-ABCA4 mix-2 Stargardt, Macular dystrophy, Retinitis pigmentosa, age-related macular degeneration, cone rod dystrophies ABCA4 (ABCR) 1p22.1
P219-PAX6 Ocular malformations, hereditary PAX6 11p13, SOX2 3q26, WT1, 11p13
P221-LCA mix-1 Leber congenital amaurosis (LCA) AIPL1 17p13, CRB1 1q31, CRX 19q13, RPE65 1p31
P222-LCA mix-2 Leber congenital amaurosis (LCA) GUCY2D 17p13.1, RDH12 14q24, RPGRIP1 14q11, CEP290 12q21
P229-OPA1 Macular dystrophy OPA1 3q28, VMD2 11q13, RDS 6p21.2
P235-Retinitis Retinitis Pigmentosa RHO 3q21.3, RP1 8q11.2, IMPDH1 7q32, PRPF31 19q13.4
P236-ARMD mix-1basic research Age-related macular degeneration (ARMD) CFH, CFHR3, CFHR1, CFHR2, 1q23
P269-FRMD7 Congenital nystagmus Xq26 (NYS1 locus), FRMD7
P285-LRP5 Osteoporosis-pseudoglioma syndrome (OPPS) LRP5 11q13.4, DKK1 10q11.2
P292-PCDH15 Usher syndrome PCDH15 10q21.1
P310-TCOF1 Treacher Collins-Franceschetti 1 TCOF1
P313-CREBBP Rubinstein–Taybi syndrome (RSTS) CREBBP 16p13.3
P325-OCA2 oculocutaneous albinism OCA2 15q12; TYR 11q14.3
P326-LARGE1 Walker-Warburg Syndrome LARGE, FKTN, POMT2
P328-EYS Retinitis Pigmentosa EYS 6q12
P333-EP300 Rubinstein–Taybi syndrome (RSTS) EP300; 22q13.2
P361-USH2A mix 1 Usher syndrome USH2A 1q41
P362-USH2A mix 2 Usher syndrome USH2A 1q41
P366-CHM-RP2-RPGR Retinitis pigmentosa (RP) CHM-RP2-RPGR
P367-BEST1-PRPH2 Macular Dystrophy, Vitelliform BEST1 (=VDM2), PRPH2 (=RDS)
P381-COL11A1 mix 1 Marshall, type II Stickler syndromes COL11A1
P382-COL11A1 mix 2 Marshall, type II Stickler syndromes COL11A1
P470-NCL Neuronal Ceroid Lipofuscinoses/Batten Disease 01p34.2, 08p23.3, 11p15.4, 15q23, 16p11.2
P473-CTNS (Nephropathic) Cystinosis 17p13.2
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