Efficient DNA carrier detection in X linked juvenile retinoschisis.
نویسندگان
چکیده
منابع مشابه
Efficient DNA carrier detection in X linked juvenile retinoschisis.
Juvenile retinoschisis is a rare, X linked hereditary vitroretinal degeneration. Female carriers of the disease do not develop any ocular abnormalities. Therefore, carrier detection by DNA analysis is extremely useful for these females. In order to evaluate the usefulness of a new class of DNA markers for carrier detection in X linked juvenile retinoschisis, DNA carrier detection or carrier exc...
متن کاملX-linked Juvenile Retinoschisis
Keywords Diagnostic criteria/definition Synonyms Historical overview Excluded diseases Differential diagnosis Prevalence Clinical description Evolution Treatment Etiology Diagnostic methods Genetics Genetic counseling Prenatal diagnosis References Abstract X-linked retinoschisis is a congenital ocular disease secondary to an abnormal cleavage of the innermost layer of the retina. The frequency ...
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An 18 year-old male with no antecedent of trauma, systemic syndrome or myopia was referred for surgical treatment of a full thickness macular hole in the left eye. A more careful inspection revealed discrete foveal cystic changes in the fellow eye and subtle peripheral depigmented retinal pigment epithelial changes in both eyes. A spectral-domain optical coherence tomography (SD-OCT) scan confi...
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tion. She described distortion without scotoma on the Amsler grid bilaterally (Figure 1C). Examination findings were otherwise normal except for stage 2 papilledema in both eyes (Figure 2D) and moderate enlargement of the physiologic blind spots on automated perimetry in both eyes. The MRI results were normal. Lumbar puncture showed an opening pressure of 410 mm CSF, with normal indices. Result...
متن کاملVascular opacification and leakage in X-linked (juvenile) retinoschisis.
A 22-year-old man had X-linked retinoschisis with extensive vascular sheathing in the posterior pole and dendritic opacified retinal vessels in the periphery. Detailed fluorescein angiographic studies were performed. In the far periphery areas of capillary nonperfusion were seen. Sluggish circulation was present in the majority of dendritic opacified vessels in the areas of schisis. Late staini...
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ژورنال
عنوان ژورنال: British Journal of Ophthalmology
سال: 1995
ISSN: 0007-1161
DOI: 10.1136/bjo.79.7.683