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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease retinal degeneration
Comorbidity C0035305|retinal detachment
Sentences 4
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- 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.
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.

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