Klinische FragestellungKatarakt [primär isoliert], Differentialdiagnose

NGS +

Die angeborene Katarakt ist eine der häufigsten Ursachen für Sehbehinderungen im Kindesalter. Schätzungsweise 1 bis 6 von 10.000 Kindern werden mit einer Trübung der Augenlinsen geboren. Neben Infektionen (Toxoplasmose, Röteln, Zytomegalie) sind in den meisten Fällen Gendefekte Ursache der Katarakt, die nicht selten Bestandteil eines angeborenen Syndroms ist. Mutationen, die eine konnatale Katarakt auslösen, wurden auf über 100 unterschiedlichen Genen gefunden. Die Katarakt kann autosomal-dominant, autosomal-rezessiv oder X-chromosomal-rezessiv vererbt werden.

Literatur: https://www.omim.org/phenotypicSeries/PS116200

• 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)