نتایج جستجو برای: linked retinitis pigmentosa
تعداد نتایج: 243752 فیلتر نتایج به سال:
OBJECTIVE To assess the clinical and molecular genetic studies of patients with autosomal recessive retinitis pigmentosa associated with a mutation in the arrestin gene. DESIGN Results of molecular genetic screening and case reports with DNA analysis and clinical features. SETTING University medical center. PATIENTS One hundred twenty anamnestically unrelated patients with autosomal reces...
BACKGROUND AND PURPOSE Diffusion tensor imaging may reflect pathology of the optic nerve; however, the ability of DTI to evaluate alterations of the optic nerve in retinitis pigmentosa has not yet been assessed, to our knowledge. The aim of this study was to investigate the diagnostic potential of reduced FOV-DTI in optic neuropathy of retinitis pigmentosa at 3T. MATERIALS AND METHODS Thirty-...
A large kindred with X-linked retinitis pigmentosa (XLRP) was investigated clinically and by means of genetic linkage with a view to developing methods of carrier detection and early diagnosis. A restriction fragment length polymorphism, identified by recombinant DNA probe L1.28, showed close genetic linkage to XLRP in this kindred and is a potentially useful marker for the purposes of genetic ...
Retinitis pigmentosa is a degenerative retinal disease characterized by progressive photoreceptor damage, which causes loss of peripheral and night vision and the development of tunnel vision and may result in loss of central vision. This study describes a patient with retinitis pigmentosa caused by a mutation in the ABCA4 gene with complex allele c.1622T>C, p.L541P; c.3113C>T, p.A1038V in homo...
Unilateral retinitis pigmentosa is a rare disease characterized by loss of photoreceptors and retinal pigment deposition without affecting the contralateral eye. Although described more than one hundred years its existence is still questioned. This article reports a case of a patient with abnormalities suggestive of unilateral retinitis pigmentosa. The clinical and complementary examinations ar...
A nationwide, multicenter study of typical retinitis pigmentosa (RP) was carried out in collaboration with 18 hospitals throughout Japan to obtain current information for genetic counseling. We analyzed the genetic heterogeneity of RP based on the parental consanguinity of 434 probands registered during a 6-month period in 1990. A gradual decline in the frequency of consanguineous marriage was ...
Retinitis pigmentosa is a genetically heterogeneous disease that has autosomal dominant, autosomal recessive and X-linked forms. Autosomal dominant retinitis pigmentosa (adRP) has thus far been associated with eight distinct loci, including the rhodopsin and peripherin/RDS genes as well as unidentified genes on chromosomes 7p, 7q, 8q, 17p, 17q, and 19q. The RP10 locus for adRP on chromosome 7q ...
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