نتایج جستجو برای: linked retinitis pigmentosa
تعداد نتایج: 243752 فیلتر نتایج به سال:
PURPOSE To describe a macrodeletion spanning entire RCC1-like doman in the RPGR gene in one Japanese family with X-linked retinitis pigmentosa (XLRP). METHODS Clinical ophthalmologic examinations were performed and genomic DNA was extracted from blood samples. Genomic DNA was analyzed by Southern blot and PCR amplification with specific primers. RESULTS Patients had severe symptoms with ear...
PURPOSE To determine the origin of the tapetal-like reflex (TLR) in carriers of X-linked retinitis pigmentosa. METHODS Spectral fundus reflectance of carriers of X-linked retinitis pigmentosa was measured and compared with that of normal subjects. The influence of visual pigment was determined by measuring the density difference, that is, the difference between the logarithmically scaled spec...
For dominantly inherited disorders development of gene therapies, targeting the primary genetic lesion has been impeded by mutational heterogeneity. An example is rhodopsin-linked autosomal dominant retinitis pigmentosa with over 150 mutations in the rhodopsin gene. Validation of a mutation-independent suppression and replacement gene therapy for this disorder has been undertaken. The therapy p...
Gyrate atrophy is a hereditary chorioretinal degeneration associated with a deficiency of ornithine aminotransferase (OAT). By means of a complementary DNA clone encoding human OAT, the OAT gene sequences were mapped by somatic cell hybrids and in situ hybridization to human chromosome regions 10q26 and Xp11.2. A review of 80 biochemically confirmed cases of gyrate atrophy confirmed the autosom...
Hallervorden-spatz disease is an inherited metabolic disorder with autosomal recessive trait. Onset is in late childhood or early adolescence. Clinical manifestation is variable but pyramidal and extrapyramidal signs are often prominent. Many of patients show progressive dementia and extrapyramidal symptoms. Ataxia or myoclonus is reported in the course of the disease in individual cases. Focal...
the authors describe two interesting and seldom cases of atrophia gyrata j and believe it to be a congenital hereditary disease with a recessive character. like retinitis pigmentosa, it does not affect the central posterior parts of the retina but the lesions are around the periphery. the visual fields are narrowed. they discuss; the similarity of this disease with atrophia gyrata described by ...
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