Visual Impairment
Product NameApplicationRegion
P027-Uveal melanoma Uveal melanoma (UM) Chr. 1p, 3, 6, 8
P047-RB1 Retinoblastoma (RB) RB1 13q14.2
P054-FOXL2-TWIST1 Ophthalmogenetic anomalies; Saethre-Chotzen syndrome (SCS); Blepharophimosis syndrome (BPES); Rieger syndrome; Ocular albinism type I FOXL2 3q22.3; TWIST1 7p21.1; FOXC1 6p25.3; FOXC2 16q24.1; ATR 3q23; PITX2 4q25; PISRT1 3q23; GPR143 Xp22.2
P065-Marfan Syndrome-1CE;IL Marfan syndrome; other FBN1-related disorders; other TGFBR2-related disorders FBN1 15q21.1; TGFBR2 3p24.1
P066-Marfan Syndrome-2CE;MA;IL Marfan syndrome; other FBN1-related disorders FBN1 15q21.1
P092-ABCC6 Pseudoxanthoma elasticum ABCC6 16p13.11
P151-ABCA4 mix-1 Stargardt disease 1; Retinal dystrophy, early-onset severe; Retinitis pigmentosa 19; Macular degeneration, age-related; Cone-rod dystrophy 3; Fundus flavimaculatus ABCA4 1p22.1
P152-ABCA4 mix-2 Stargardt disease 1; Retinal dystrophy, early-onset severe; Retinitis pigmentosa 19; Macular degeneration, age-related; Cone-rod dystrophy 3; Fundus flavimaculatus ABCA4 1p22.1
P219-PAX6 SOX2-related eye disorders; PAX6-related aniridia; Wilms tumor-aniridia-genital anomalies-retardation (WAGR) syndrome PAX6 11p13; SOX2 3q26.33; WT1, 11p13
P221-LCA mix-1 Leber congenital amaurosis (LCA) LCA5 6q14.1; AIPL1 17p13.2; CRB1 1q31.3; CRX 19q13.32; RPE65 1p31.3
P222-LCA mix-2 Leber congenital amaurosis (LCA) GUCY2D 17p13.1; RDH12 14q24.1; RPGRIP1 14q11.2; CEP290 12q21.32
P229-OPA1 Optic atrophy type 1 OPA1 3q29
P235-Retinitis Retinitis Pigmentosa (RP) RHO 3q22.1; RP1 8q12.1; IMPDH1 7q32.1; PRPF31 19q13.42
P236-ARMD mix-1basic research Age-related macular degeneration (ARMD) CFH, CFHR3, CFHR1, CFHR2, 1q23
P269-FRMD7 Idiopathic infantile nystagmus, X-linked FRMD7 Xq26 (NYS1 locus)
P285-LRP5 Osteoporosis-pseudoglioma syndrome (OPPG); Exudative vitreoretinopathy, autosomal dominant familial (adFEVR) LRP5 11q13.2; DKK1 10q21.1; NDP Xp11.3; FZD4 11q14.2
P292-PCDH15 Usher syndrome type 1F (USH1F) PCDH15 10q21.1
P310-TCOF1 Treacher Collins-Franceschetti syndrome TCOF1 5q32-q33.1
P313-CREBBP Rubinstein–Taybi syndrome (RSTS) CREBBP 16p13.3
P325-OCA2 Oculocutaneous albinism type 1 (OCA1); Oculocutaneous albinism type 2 (OCA2) OCA2 15q13.1; TYR 11q14.3
P326-LARGE1 Walker-Warburg syndrome LARGE 22q12.3; FKTN 9q31.2; POMT2 14q24.3
P328-EYS Retinitis pigmentosa, nonsyndromic autosomal recessive EYS 6q12
P333-EP300 Rubinstein–Taybi syndrome (RSTS) EP300 22q13.2
P361-USH2A mix 1 Usher syndrome type II (USH2) USH2A 1q41
P362-USH2A mix 2 Usher syndrome type II (USH2) USH2A 1q41
P366-CHM-RP2-RPGR Retinitis pigmentosa, X-linked (xlRP); Choroideremia RP2 Xp11.23; RPGR Xp11.4; CHM Xq21.2
P367-BEST1-PRPH2 Best vitelliform macular dystrophy (VMD2); Vitelliform macular dystrophy type 3 (VDM3) BEST1 11q12.3; PRPH2 6p21.1
P381-COL11A1 mix 1 Marshall syndrome; Stickler syndrome type II COL11A1 1p21.1
P382-COL11A1 mix 2 Marshall syndrome; Stickler syndrome type II COL11A1 1p21.1
P470-NCL Neuronal Ceroid-lipofuscinoses (NCLs) PPT1 1p34.2; CLN3 16p11.2; TPP1 11p15.4; CLN8 8p23.3; CLN6 15q23
P473-CTNS Cystinosis CTNS 17p13.2
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