ErkrankungMyopie, syndromisch; Differentialdiagnose

MP3361_DH

• Allelic: Mitochondrial complex IV deficiency, nuclear type 2 (SCO2)
• Achromatopsia (CNGB3)
• Acromelic frontonasal dysostosis (ZSWIM)
• Alagille syndrome (JAG1)
• Aland Island eye disease (GPR143)
• Alport syndrome (COL4A5, COL4A3)
• Angelman syndrome (UBE3A)
• Anterior segment dysgenesis (PITX3)
• Beals syndrome (FBN2)
• Beaulieu–Boycott–Innes syndrome (THOC6)
• Bietti crystalline corneoretinal dystrophy (CYP4V2)
• Blue cone monochromacy (OPN1LW, OPN1MW)
• Bohring–Opitz syndrome (ASXL1)
• Bone fragility + contractures, arterial rupture + deafness (PLOD3)
• Branchiooculofacial syndrome (TFAP2A)
• Brittle cornea syndrome (ZNF469, PRDM5)
• Cardiofaciocutaneous syndrome (MAP2K2)
• Cataract (BFSP2, CRYBA2, EPHA2)
• Cohen syndrome (VPS13B)
• Cone dystrophy (KCNV2)
• Cone rod dystrophy (CFAP418, RAB28, RPGR, CACNA1F)
• Congenital stationary night blindness (CACNA1F, GNB3, GPR179, GRM6, LRIT3, NYX, SLC24A1)
• Cornelia de Lange syndrome (HDAC8, NIPBL)
• Cowden syndrome (PTEN)
• Cranioectodermal dysplasia (IFT122)
• Cutis laxa (ALDH18A1, ATP6V0A2)
• DOORS syndrome (TBC1D24)
• Danon disease (LAMP2)
• Deafness + myopia (SLIRK6)
• Desanto–Shinawi syndrome (WAC)
• Desbuquois dysplasia (CANT1)
• Donnai–Barrow syndrome (LRP2)
• Ectopia lentis et pupillae ()ADAMTSL4)
• Fibrochondrogenesis 1 (COL11A1)
• Gyrate atrophy of choroid and retina with/without ornithinemia (OAT)
• Hamamy syndrome (IRX5)
• High myopia with cataract + vitreoretinal degeneration (P3H2)
• Homocystinuria (CBS)
• Joint laxity, short stature + myopia (GZF1)
• Kaufman oculocerebrofacial syndrome (UB3B)
• Kenny–Caffey syndrome (FAM111A)
• Keratoconus (VSX1)
• Kniest dysplasia (COL2A1)
• Knobloch syndrome (COL18A1)
• Lamb–Shaffer syndrome (SOX5)
• Leber congenital amaurosis (TULP1)
• Lethal congenital contracture syndrome (ERBB3)
• Linear skin defects with multiple congenital anomalies (COXB7, NDUFB11)
• Loeys–Dietz syndrome (TGFBR1, TGFBR2)
• Macrocephaly/megalencephaly syndrome (TBC1D7)
• Marfan syndrome (FBN1)
• Marshall syndrome (COL11A1)
• Microcephaly +/- chorioretinopathy, lymphedema; +/- mental retardation (KIF11)
• Microcornea, myopic chorioretinal atrophy + telecanthus (ADAMTS18)
• Microspherophakia +/- megalocornea, with ectopia lentis +/- secondary glaucoma (LTBP2)
• Mohr–Tranebjaerg syndrome (TIMM8A)
• Mucolipidosis (GNPTAG)
• Myopia 23, AR (LRPAP1)
• Myopia 6 (SCO2)
• Nephrotic syndrome (LAMB2)
• Ocular albinism (OCA2)
• Oculocutaneous albinism (TYR)
• Oculodentodigital dysplasia (GJA1)
• Papillorenal syndrome (PAX2)
• Peters-plus syndrome (B3GLCT)
• Pitt–Hopkins syndrome (TCF4)
• Pontocerebellar hypoplasia (CHMP1A)
• Poretti–Boltshauser syndrome (LAMA1)
• Primary open angle glaucoma (MYOC, OPTN)
• Pseudoxanthoma elasticum (ABCC6)
• Renal hypomagnesemia (CLDN16, CLDN19)
• Retinal cone dystrophy (KCNV2)
• Retinal dystrophy (C21orf2, TUB )
• Retinitis pigmentosa (RP1, RP2, RPGR, TTC8)
• SADDAN (FGFR3)
• SHORT syndrome (PIK3R1)
• Schaaf–Yang syndrome (MAGEL2)
• Schimke immunoosseous dysplasia (SMARCAL1)
• Schuurs–Hoeijmakers syndrome (PACS1)
• Schwartz–Jampel syndrome (HSPG2)
• Sengers syndrome (AGK)
• Short stature, optic nerve atrophy + Pelger–Huet anomaly (NBAS)
• Short stature; hearing loss; retinitis pigmentosa and distinctive facies (EXOSC2)
• Short-rib thoracic dysplasia with/-out polydactyly
• Shprintzen–Goldberg syndrome (SKI)
• Singleton–Merten syndrome (IFIH1)
• Small vessel brain disease with/without ocular anomalies (COL4A1)
• Smith–Magenis syndrome (RAI1)
• Spastic paraplegia + psychomotor retardation with/-out seizures (HACE1)
• Sveinsson chorioretinal atrophy (TEAD1)
• Syndromic microphthalmia (OTX2, BMP4)
• Temtamy syndrome (C12orf57)
• Vitreoretinopathy (ZNF408)
• Wagner vitreoretinopathy (VCAN)
• Weill–Marchesani syndrome (ADAMTS10, FBN1, LTBP2, ADAMTS17)
• White–Sutton syndrome (POGZ)
• Zimmermann–Laband syndrome (KCNH1)