IllnessCataract, differential diagnosis

NGS +

Cataracts are the clinical equivalent of lens opacification due to light scattering either by high-molecular-weight protein aggregates in the lens cells or by disruption of the lens microarchitecture. Molecules critical for homeostasis and transparency include lens crystallins, connexins, membrane proteins and intermediate filament proteins. Yet "cataract genes" also code for chaperone or protein degradation components, transcription or growth factors, channels active in the lens circuits, collagens and extracellular matrix components. Inherited cataracts may be part of multisystem diseases. They can be classified by age of onset: Congenital cataracts destroy the microarchitecture of the lens, while age-related cataracts form high-molecular-weight aggregates that lead to light scattering. Age-related cataracts are usually multifactorial. They do not have as severe an impact on the affected individual as congenital cataracts. Cataracts can also be classified according to their clinical appearance and location in the lens, i.e. polar, zonular, complete and capsular or membranous cataracts. Congenital cataracts may occur in isolation or in association with additional anterior chamber abnormalities such as microcornea, microphthalmia or aniridia or may be part of complex genetic syndromes (chromosomal, developmental or metabolic disorders). Many mutations show isolated cataracts in some patients, while in other family members they may be associated with defects in the anterior segment or in the entire eye. Although most isolated Mendelian cataracts are diagnosed in the first year of life, some occur in early adulthood. Currently >100 causative genes have been identified, and all classical modes of inheritance may occur. Molecular diagnostic yield can reach nearly 80% in congenital cataracts.

References: see textbooks

• Alias: Cataract
• Alias: Cataract combined with other eye anomalies
• Alias: Cataract-microcornea syndrome, included
• Allelic: 3-methylglutaconic aciduria, type III (OPA3)
• Allelic: Aniridia (PAX6)
• Allelic: Aortic aneurysm, familial thoracic 11, susceptibility to (FOXE3)
• Allelic: Ayme-Gripp syndrome (MAF)
• Allelic: Cardiomyopathy, dilated, 1II (CRYAB)
• Allelic: Cataract 11, multiple types (PTX3)
• Allelic: Cataract 11, syndromic, AR (PTX3)
• Allelic: Cataract with late-onset corneal dystrophy (PAX6)
• Allelic: Coloboma of optic nerve (PAX6)
• Allelic: Coloboma, ocular (PAX6)
• Allelic: Deafness, AD 37 (COL11A1)
• Allelic: Dent disease 2 (OCRL)
• Allelic: Fibrochondrogenesis 1 (COL11A1)
• Allelic: Foveal hypoplasia 1 (PAX6)
• Allelic: Keratitis (PAX6)
• Allelic: Lumbar disc herniation, susceptibility to (COL11A1)
• Allelic: Marbach-Rustad progeroid syndrome (LEMD2)
• Allelic: Microphthalmia, isolated 2 (VSX2)
• Allelic: Morning glory disc anomaly (PAX6)
• Allelic: Myofibrillar myopathy 11 (UNC45B)
• Allelic: Myopathy, myofibrillar, 2 (CRYAB)
• Allelic: Norum disease (LCAT)
• Allelic: Optic nerve hypoplasia (PAX6)
• Allelic: Spastic paraplegia 9A, AD (ALDH18A1)
• Allelic: Spastic paraplegia 9B, AR (ALDH18A1)
• Allelic: Stickler sydrome, type I, nonsyndromic ocular (COL2A1)
• Allelic: Stickler syndrome, type II (COL11A1)
• Allelic: Trichothiodystrophy 1, photosensitive (ERCC2)
• Allelic: Vitreoretinopathy with phalangeal epiphyseal dysplasia (COL2A1)
• Allelic: Xeroderma pigmentosum, group D (ERCC2)
• Peter's anomaly, microphthalmia, included
• Peters anomaly, included
• 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement, neutropenia (CLPB)
• 3-methylglutaconic aciduria, type VIII (HTRA2)
• Alzahrani-Kuwahara syndrome (SMG8)
• Anterior segment anomalies with/-out cataract (EYA1)
• Anterior segment dysgenesis 1, multiple subtypes (PITX)
• Anterior segment dysgenesis 1, multiple subtypes (PTX3)
• Anterior segment dysgenesis 2, multiple subtypes (FOXE3)
• Anterior segment dysgenesis 3, multiple subtypes (FOXC1)
• Anterior segment dysgenesis 5, multiple subtypes (PAX6)
• Anterior segment dysgenesis 7, with sclerocornea (PXDN)
• Axenfeld-Rieger syndrome, type 3 (FOXC1)
• Ayme-Gripp syndrome (MAF)
• Brain small vessel disease with/-out ocular anomalies (COL4A1)
• Branchiootorenal syndrome 1, with/-out cataracts (EYA1)
• CIMDAG s. [Cereb. hypopl., cataract, ID, cong. Microc., Dyst., dysery. Anemia, Growth ret.] (VPS4A)
• Cataract 1, multiple types (GJA8)
• Cataract 11, multiple types (PITX)
• Cataract 11, syndromic, AR (PITX)
• Cataract 14, multiple types (GJA3)
• Cataract 15, multiple types (MIP)
• Cataract 16, multiple types (CRYAB)
• Cataract 21, multiple types (MAF)
• Cataract 22 (CRYBB3)
• Cataract 23 (CRYBA4)
• Cataract 3, multiple types (CRYBB2)
• Cataract 34, multiple types (FOXE3)
• Cataract 38, AR (AGK)
• Cataract 40, XL (NHS)
• Cataract 41 (WFS1)
• Cataract 42 (CRYBA2)
• Cataract 43 (UNC45B)
• Cataract 45 (SIP1L3)
• Cataract 46, juvenile-onset (LEMD2)
• Cataract 47, juvenile, with microcornea (SLC16A12)
• Cataract 48 (DNMBP)
• Cataract 9, multiple types (CRYAA)
• Cataract due to abnormal sterol metabolism, AR [panelapp] (CYP51A1)
• Cataract pulverulent or cerulean with/-out microcornea (MAF)
• Cataract with late-onset corneal dystrophy (PAX6)
• Cataract, deafness, intellectual disability, seizures, Down syndr.-like facies; Ayme-Gripp s. (MAF)
• Cerebrooculofacioskeletal syndrome 2 (ERCC2)
• Cerebrotendinous xanthomatosis (CYP27A1)
• Congenital cataracts, facial dysmorphism, neuropathy (CTDP1)
• Congenital cataracts, hearing loss + neurodegeneration (SLC33A1)
• Congenital posterior cataract [panelapp] (PANK4)
• Cutis laxa, AD (ALDH18A1)
• Cutis laxa, AR, type IIIA (ALDH18A1)
• Deafness, cataract, impaired intellectual development + polyneuropathy (PSMC3)
• Exudative vitreoretinopathy 2, XL (NDP)
• Fish-eye disease (LCAT)
• Galactosemia (GALT)
• Gillespie syndrome, included Knobloch syndrome, type 1 (COL18A1)
• Hemorrhagic destruction of the brain, subependymal calcification + cataracts (JAM3)
• Hyperferritinemia-cataract syndrome (FTL)
• Ichthyosis, follicular, with atrichia + photophobia syndrome 2 (SREBF1)
• Kahrizi syndrome (SRD5A3)
• Leukodystrophy, hypomyelinating, 5 (FAM126A)
• Lowe syndrome (OCRL)
• Macrothrombocytopenia, granulocyte incl. with/-out nephritis, sensorineural hearing loss (MYH9)
• Mannosidosis, alpha-, types I, II (MAN2B1)
• Marinesco-Sjogren syndrome (SIL1)
• Marshall syndrome (COL11A1)
• Martsolf syndrome (RAB3GAP2)
• Microcephaly, congenital cataract, psoriasiform dermatitis (MSMO1)
• Microphthalmia with coloboma 3 (VSX2)
• Microphthalmia, syndromic 2 (BCOR)
• Mucoepithelial dysplasia, hereditary (SREBF1)
• Muscular dystrophy, congenital, cataracts + intellectual disability (INPP5K)
• Myopia, high, with cataract + vitreoretinal degeneration (P3H2)
• Nance-Horan syndrome (NHS)
• Neurofibromatosis, type 2 (NF2)
• Norrie disease (NDP)
• Norum disease (LCAT)
• Oculoauricular syndrome (HMX1)
• Optic atrophy 3 with cataract (OPA3)
• Peroxisomal fatty acyl-CoA reductase 1 disorder (FAR1)
• Peroxisome biogenesis disorders (PEX...)
• Peters-plus syndrome (B3GLCT)
• Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa + cataract (ABHD12)
• Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, cataract (ADAMTS10)
• Rhizomelic chondrodysplasia punctata, type 2 (GNPAT)
• Rhizomelic chondrodysplasia punctata, type 3 (AGPS)
• Rothmund-Thomson syndrome, type 2 (RECQL4)
• Sengers syndrome (AGK)
• Smith-Lemli-Opitz syndrome (DHCR7)
• Sorbitol dehydrogenase deficiency with peripheral neuropathy (SORD)
• Spondyloocular syndrome (XYLT2)
• Stickler syndrome, type I (COL2A1)
• Triokinase + FMN cyclase deficiency syndrome (TKFC)
• Vici syndrome (EPG5)
• Warburg micro syndrome 1 (RAB3GAP1)
• Warburg micro syndrome 2 (RAB3GAP2)
• Warburg micro syndrome 3 (RAB18)
• Warburg micro syndrome 4 (TBC1D20)
• Werner syndrome (WRN)