Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0086543 (cataract)
 29,165 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A family with vitreo-tapeto-retino-choroidal degeneration is presented. Five members of a sibship of nine and their mother are affected. Retinal changes in the form of macular degeneration and peripheral preretinal membranes are the most prominent features. Other manifestations are vitreous degeneration, optic atrophy, equatorial pigmentation, and complicated cataract. The heredity is probably autosomal dominant. Comparisons are made with the well-known hereditary vitreo-retinal degenerations, in particular with Wagner's disease. Above all, the extensive macular degeneration in two of the patients, involving the retina, the pigment epithelium, and the choriocapillaris, distinguishes the present disorder from the above-mentioned.
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PMID:A family with vitreo-tapeto-retino-choroidal degeneration with dominant transmission. 696 73

Four members of a black family with findings of Wagner's vitreoretinal degeneration are described in this paper. All present with the classical findings of an optically clear vitreous and pigment abnormalities of the fundus varying from fine perivascular to dense peripheral pigment clumping. In addition, the characteristic associated findings of high myopia, gluccoma, presenile cataract formation, choroidal atrophy, and retinal detachment are documented. To our knowledge, we believe these to be the first cases of Wagner's disease to be presented in a nonwhite pedigree.
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PMID:Wagner's vitreoretinal degeneration. 728 20

We report ocular findings from 2 children with Kniest dysplasia. Both eyes of the 2 patients had abnormal long axial length causing high myopia, and vitreoretinal degeneration. The vitreous cavity of case 1 (a 15-year-old boy) which contained fibrous clouded membranous structures floating in the retrolental space and dense opacity at the temporal-inferior portion, was optically empty. Case 2 (a 7-year-old boy) had cortical and posterior subcapsular opacity of the lens, and also veil-like vitreous opacity in the periphery. Their common retinal changes were characterized as perivascular lattice degeneration and white without pressure in various degrees. They have not yet shown cataract or retinal detachment which needs surgical treatment, but close ophthalmological follow up will be necessary for their favorable prognosis. The literature on vitreoretinal degeneration such as Wagner's disease or Stickler syndrome may indicate the relation of Kniest dysplasia to similar diseases. Because they might have different clinical courses and visual prognosis according to the original biosynthetic disorders, we emphasized the importance of orthopedic diagnosis regarding such vitreoretinal degeneration with constitutional bone diseases.
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PMID:[Two cases of Kniest dysplasia--ocular manifestations]. 773 32

Wagner syndrome (WGN1; MIM 143200), an autosomal dominant vitreoretinopathy characterized by chorioretinal atrophy, cataract, and retinal detachment, is linked to 5q14.3. Other vitreoretinopathies without systemic stigmata, including erosive vitreoretinopathy, are also linked to this region and are likely to be allelic. Within the critical region lie genes encoding two extracellular macromolecules, link protein (CRTL1) and versican (CSPG2), which are important in binding hyaluronan, a significant component of the mammalian vitreous gel, and which therefore represent excellent candidates for Wagner syndrome. Genetic mapping presented here in two further families reduces the critical region to approximately 2 cM. Subsequent refinement of the physical map allows ordering of known polymorphic microsatellites and excludes CRTL1 as a likely candidate for the disorder. CSPG2 is shown to lie within the critical region; however, analysis of the complete coding region of the mature peptide reveals no clear evidence that it is the gene underlying WGN1.
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PMID:Refined genetic and physical localization of the Wagner disease (WGN1) locus and the genes CRTL1 and CSPG2 to a 2- to 2.5-cM region of chromosome 5q14.3. 1019 61

Hereditary vitreoretinopathies are potentially blinding inherited disorders characterized by an abnormal-appearing vitreous gel and associated retinal changes. Four of these disorders, Stickler's syndrome, Wagner's disease, erosive vitreoretinopathy, and Goldmann-Favre syndrome, exhibit marked syneresis of the vitreous gel. Erosive vitreoretinopathy has associated retinal pigment epithelial changes, poor night vision, visual field defects, and abnormal electroretinographic findings; symptoms not found in Stickler's syndrome. A 36-year-old man with progressive visual loss and a visual field defect had no systemic disease. His vitreous cavity was liquefied. Vitreous strands and a cataract were found in both eyes. Pronounced RPE degeneration was found superotemporally in both eyes and a bullous rhegmatogenous retinal detachment in the left eye accompanied two retinal tears. His visual field showed a ring scotoma in both eyes and the ERG finding was abnormal. We report one case of erosive vitreoretinopathy with retinal pigment epithelial changes, rhegmatogenous retinal detachment, visual field defects, abnormal electroretinographic findings, marked vitreous syneresis and cataract. These symptoms are distinct from previously described entities.
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PMID:A case of erosive vitreoretinopathy. 1216 18

The inherited vitreoretinal degenerations or vitreoretinopathies are characterized by congenital and acquired disorders of the eye including early onset cataract, anomalies of the vitreous manifesting as optically empty vitreous, course fibrils, and membranes, and retinal detachment. These diseases include Stickler syndrome types I (STL1) and II (STL2), usually caused by mutations in COL2A1 and COL11A1 respectively. Wagner syndrome (WGN1) is associated with mutations in versican (CSPG2) and snowflake vitreoretinal degeneration (SVD) with a mutation in a potassium channel (KCNJ13). The cataract is often cortical and may be wedge-shaped, but does not distinguish between the different syndromes. The congenital vitreous defect is usually characterized as fibrillar degeneration (STL2, WGN1, and SVD) or as a vestigial membrane just behind the lens (STL1). Peripheral chorioretinal atrophy with nyctalopia is prominent in WGN1. Intraretinal crystals may be visible in the periphery using a contact lens in SVD and corneal guttae, a flat appearance to the optic nerve head and mild atrophy of the peripheral retinal pigment epithelium are also common features. Other vitreoretinal degenerations including a number of chondrodysplasias in addition to STL1 and STL2, enhanced S-cone syndrome caused by mutations in NR2E3, and autosomal dominant vitreoretinochoroidopathy caused by mutations in VMD2 are discussed. Patients with unexplained early onset cataract or retinal detachment should be carefully evaluated for vitreoretinal degeneration. Theses diseases share overlapping clinical features with common complex traits affecting the eye (myopia, corneal endothelial dystrophy, lattice degeneration), and may provide insight into the mechanisms of common eye diseases.
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PMID:Clinical features of the congenital vitreoretinopathies. 1830 37