Klinische FragestellungKatarakt [primär isoliert], Differentialdiagnose

NGS +

Hohe klinische + genetische Heterogenität, am häufigsten gekennzeichnet durch bilaterale, symmetrische, nicht-progressive Katarakte, die bei der Geburt oder im frühen Kindesalter auftreten. Zusätzliche okuläre Manifestationen (z.B. Vorderabschnittsdysgenese, Kolobome, Nystagmus, Mikrokornea, Mikrophthalmie, Myopie) können assoziiert sein, andere Organe/Systeme sind jedoch in der Regel nicht betroffen.

• Allelic: Adult i phenotype without cataract (GCNT2)
• Allelic: Alopecia-mental retardation syndrome 4 (LSS)
• Allelic: Angiopathy, hereditary, with nephropathy, aneurysms + muscle cramps (COL4A1)
• Allelic: Aniridia (PAX6)
• Allelic: Aortic aneurysm, familial thoracic 11, susceptibility to (FOXE3)
• Allelic: Ayme-Gripp syndrome (MAF)
• Allelic: Blood group, Ii (GCNT2)
• Allelic: Brain small vessel disease 2 (COL4A2)
• Allelic: Brain small vessel disease with/-out ocular anomalies (COL4A1)
• Allelic: Branchiootic syndrome 1 (EYA1)
• Allelic: Cardiomyopathy, dilated, 1II (CRYAB)
• Allelic: Coloboma, ocular (PAX6)
• Allelic: Deafness, AD 6/14/38 (WFS1)
• Allelic: Diabetes mellitus, noninsulin-dependent, association with (WFS1)
• Allelic: Foveal hypoplasia 1 (PAX6)
• Allelic: Hemorrhage, intracerebral, susceptibility to (COL4A1, COL4A2)
• Allelic: Hypotrichosis 14 (LSS)
• Allelic: Keratitis (PAX6)
• Allelic: L-ferritin deficiency, dominant + recessive (FTL)
• Allelic: Microangiopathy + leukoencephalopathy, pontine, AD (COL4A1)
• Allelic: Morning glory disc anomaly (PAX6)
• Allelic: Myofibrillar myopathy 11 (UNC45B)
• Allelic: Myopathy, myofibrillar, 2 (CRAB)
• Allelic: Myopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-related (CRYAB)
• Allelic: Neurodegeneration with brain iron accumulation 3 (FTL)
• Allelic: Optic nerve hypoplasia (PAX6)
• Allelic: Otofaciocervical syndrome (EYA1)
• Allelic: Retinal arteries, tortuosity of (COL4A1)
• Allelic: Rhizomelic chondrodysplasia punctata, type 1 (PEX7)
• Anterior segment anomalies with/-out cataract (EYA1)
• Anterior segment dysgenesis 1, multiple subtypes (PITX3)
• Anterior segment dysgenesis 2, multiple subtypes (FOXE3)
• Anterior segment dysgenesis 5, multiple subtypes (PAX6)
• Branchiootorenal syndrome 1, with/-out cataracts (EYA1)
• CODAS syndrome [Cerebral, Ocular, Dental, Auricular, Skeletal anomalies s.] (LONP1)
• Cataract 1, multiple types (GJA8)
• Cataract 10, multiple types (CRYBA1)
• Cataract 11, multiple types (PITX3)
• Cataract 11, syndromic, AR (PITX3)
• Cataract 12, multiple types (BFSP2)
• Cataract 13 with adult i phenotype (GCNT2)
• Cataract 14, multiple types (GJA3)
• Cataract 15, multiple types (MIP)
• Cataract 16, multiple types (CRYAB)
• Cataract 17, multiple types (CRYBB1)
• Cataract 18, AR (FYCO1)
• Cataract 19, multiple types (LIM2)
• Cataract 2, multiple types (CRYGC)
• Cataract 20, multiple types (CRYGS)
• Cataract 21, multiple types (MAF)
• Cataract 22 (CRYBB3)
• Cataract 23 (CRYBA4)
• Cataract 3, multiple types (CRYBB2)
• Cataract 30, pulverulent (VIM)
• Cataract 31, multiple types (CHMP4B)
• Cataract 33, multiple types (BFSP1)
• Cataract 34, multiple types (FOXE3)
• Cataract 36 (TDRD7)
• Cataract 38, AR (AGK)
• Cataract 39, multiple types, AD (CRYGB)
• Cataract 4, multiple types (CRYGD)
• Cataract 40, XL (NHS)
• Cataract 41 (WFS1)
• Cataract 42 (CRYBA2)
• Cataract 43 (UNC45B)
• Cataract 44 (LSS)
• Cataract 45 (SIPA1L3)
• Cataract 47, juvenile, with microcornea (SLC16A12)
• Cataract 48 (DNMBP)
• Cataract 49 (PANK4)
• Cataract 5, multiple types (HSF4)
• Cataract 6, multiple types (EPHA2)
• Cataract 9, multiple types (CRYAA)
• Cataract with late-onset corneal dystrophy (PAX6)
• Cataract, AR, due to abnormal sterol metabolism [panelapp] (CYP51A1)
• Cerebrotendinous xanthomatosis (CYP27A1)
• Congenital cataracts, facial dysmorphism + neuropathy (CTDP1)
• Deafness, cataract, impaired intellectual development + polyneuropathy (PSMC3)
• Galactokinase deficiency with cataracts (GALK1)
• Generalized hypotonia, developmental delay, ID, seizures, autistic behavior [panelapp] (TRPM3)
• Hemochromatosis, type 4 (SLC40A1)
• Hyperferritinemia-cataract syndrome (FTL)
• Insulinomatosis + diabetes mellitus (MAFA)
• Isolated paediatric cataract [panelapp; MONDO:0005129] (PGRMC1)
• Marinesco-Sjogren syndrome (SIL1)
• Nance-Horan syndrome (NHS)
• Neurofibromatosis, type 2 (NF2)
• Peroxisome biogenesis disorder 14B (PEX11B)
• Peroxisome biogenesis disorder 9B (PEX7)
• Sengers syndrome (AGK)
• Stickler syndrome, type I, nonsyndromic ocular (COL2A1)
• Wolfram syndrome 1 (WFS1)
• Wolfram-like syndrome, AD (WFS1)