Cases reported "Retinitis Pigmentosa"

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1/3. sex-linked pigmentary retinopathy (P.R.).

    The silently affected female relatives of a patient severely affected by pigmentary retinopathy may show on ophthalmoscopy a sector with pigmentary retinopathy and disturbed functional examinations; the risk factors to suggest X linked disease are described. In our case the mother appeared a heterozygote for sex linked P.R.
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ranking = 1
keywords = x-linked
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2/3. Decreasing B-wave amplitude noted in erg in one type of retinitis pigmentosa.

    Electroretinographic studies have been helpful in differentiating human forms of retinitis pigmentosa inherited by different patterns. The prognosis appears to be correlated with the mode of inheritance. The recessively inherited form along with the x-linked and dominantly inherited with reduced penetrance type of inheritance are associated with more severe forms of the disease than is the dominantly inherited with complete penetrance. The underlying biochemical defects have not been identified. Human pathological specimens early in the disease have been almost nonexistent. Animal models have been identified but correlation with human disease has been markedly limited [1]. electrophysiology and recent technology offer some prospect for differentiating responsible abnormalities and offer a noninvasive evaluation of the disease process and treatment. Three cases of dominantly inherited retinitis pigmentosa with complete penetrance are presented. These show a decreasing B-wave amplitude on successive photopic evaluations using fast random stimuli.
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ranking = 0.25
keywords = x-linked
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3/3. sex-linked retinitis pigmentosa: ultrastructure of photoreceptors and pigment epithelium.

    An ultrastructural study of a postmortem donor eye from a 24-year-old male patient with sex-linked retinitis pigmentosa showed abnormalities in all remaining cones and rods. Central foveal cones were reduced in number by about 50% and had shortened and severely distorted outer segments. Cones from the parafovea through the midperiphery gradually decreased in density and had no organized outer segments. In the far periphery, cones and rods had only slightly shortened outer segments. Photoreceptors equidistant from the fovea in all quadrants showed similar changes. The virtual absence of organized cone outer segments from the parafovea through the midperiphery was conspicuous in that this patient had full visual fields with large test lights 3 weeks prior to death. The pigment epithelium contained abnormally large numbers of melanolysosomes and few free melanin granules from the fovea through the midperiphery and few melanolysosomes and many free melanin granules in the far periphery. Whether or not these observations in the pigment epithelial cells represent a primary defect in this disease or reflect changes secondary to a defect in the photoreceptor cells remains to be defined.
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ranking = 1.25
keywords = x-linked
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