منابع مشابه
Retinitis pigmentosa; pathological findings in two cases.
ALTHOUGH retinitis pigmentosa is a fairly common affection and an important cause of blindness, relatively few cases have been examined histologically. Cogan (1950) found some twenty cases in the literature and himself described three more. The condition most commonly shows a recessive mode of inheritance (Sorsby, 1951), and all the cases so far described for which family histories are recorded...
متن کاملRetinitis pigmentosa.
Hereditary degenerations of the human retina are genetically heterogeneous, with well over 100 genes implicated so far. This Seminar focuses on the subset of diseases called retinitis pigmentosa, in which patients typically lose night vision in adolescence, side vision in young adulthood, and central vision in later life because of progressive loss of rod and cone photoreceptor cells. Measures ...
متن کاملRetinitis pigmentosa
Retinitis pigmentosa (RP) is an inherited retinal dystrophy caused by the loss of photoreceptors and characterized by retinal pigment deposits visible on fundus examination. Prevalence of non syndromic RP is approximately 1/4,000. The most common form of RP is a rod-cone dystrophy, in which the first symptom is night blindness, followed by the progressive loss in the peripheral visual field in ...
متن کاملP 367 Two novel missense mutations of peripherin/RDS gene in autosomal dominant retinitis pigmentosa (ADRP), in pedigrees from France
PURPOSE. Light microscopic and ultrastructural studies were perfomed in the human epiretinal membranes secondary to proliferative vitreoretinopathy (PVR).HETRODS.Humanpreretinal membranes from 5 eyes with PVR were obtained by vitrectomy. These membranes were processed for inmunohistochemical (GFAP) and electron microscopy studies to study the morphology and the cell composition. RESULTS. Light ...
متن کاملLinkage analysis of five pedigrees affected with typical autosomal dominant retinitis pigmentosa.
Five pedigrees (including an expanded version of a previously reported pedigree) exhibited typical autosomal dominant retinitis pigmentosa were analysed for linkage of RP to 29 genetic markers. No significant lod scores resulted. The largest lod score is +1.51 and suggests linkage between RP and Rh blood group at an estimated recombination fraction of 20% in males and 40% in females. Further st...
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ژورنال
عنوان ژورنال: Annals of Eugenics
سال: 1930
ISSN: 2050-1420
DOI: 10.1111/j.1469-1809.1930.tb02076.x