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PedAM

Pediatric Disease Annotations & Medicines




Disease retinal degeneration
Phenotype C0035305|retinal detachment
Sentences 7
PubMedID- 23825967 A collagen xviii deficiency leads to knobloch syndrome, which is characterized by various pathologies, including viteoretinal degeneration with retinal detachment as well as a neural tube closure defect [33], [34].
PubMedID- 22399687 Background: knobloch syndrome is defined as a triad of occipital defect, high myopia and vitreo-retinal degeneration (often with later retinal detachment); however, the ocular phenotype is not well defined.
PubMedID- 21163348 Mutations in the collagen xviii gene lead to the knobloch syndrome, which is characterized by high myopia, vitreoretinal degeneration with retinal detachment, macular abnormalities and occipital encephalocele.
PubMedID- 23335958 All participants had negative history of: 1) severe macular disease or vision loss onset prior to 40-years-of-age; 2) juvenile retinal degeneration, macular damage resulting from ocular trauma, retinal detachment, high myopia, chorioretinal infection/inflammatory disease, or choroidal dystrophy; and, 3) retinal insult that would render the fundus ungradable.
PubMedID- 24068865 These conditions include but are not limited to artery or vein occlusion in diabetic retinopathy, hypoxic retina in retinopathy of prematurity, aging in age-related macular degeneration, expression of mutant proteins in inherited retinal degeneration, traumatic injury leading to retinal detachment, and light sensitivity in the case of light-induced retinal degeneration.
PubMedID- 23940728 No participant exhibited history or evidence of: 1) retinal insult rendering the fundus ungradable; 2) severe macular disease or vision loss onset prior to 40-years-of-age; or 3) diagnosis of juvenile macular or retinal degeneration, macular damage resulting from ocular trauma, retinal detachment, high myopia, chorioretinal infection, or inflammatory disease, or choroidal dystrophy.
PubMedID- 22723992 Vitreoretinal degeneration is complicated by retinal detachment in alport syndrome [23], leading us to speculate that aberrations in col4a4 may be involved in retinal thinning in cases of lattice degeneration of the retina.

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