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Purpose : To investigate psychosocial adjustment to visual loss in patients with retinitis pigmentosa (RP). Design : Cross-sectional study. Methods : Thirty-three legally blind patients with RP participated in the study. Information regarding the patients' adjustment to their visual loss was...
The genetic background of congenital glaucoma in a consanguineous south Indian family was examined by homozygosity analyses. Significant evidence for the homozygosity of alleles was detected for markers D2S177and D2S1346 that are tightly linked to the CYP1B1 gene, and further involvement of this...
Objective : To identify the genetic factors associated with familial non-arteritic anterior ischemic optic neuropathy (NA-AION) in a large pedigree. Methods : Eleven family members of a single pedigree, including six affected with NA-AION, underwent detailed clinical examinations. The...
Purpose : To assess attitudes towards predictive testing for autosomal dominant retinitis pigmentosa (ADRP). Methods : A prospective questionnaire study of 46 affected adults and their adult family members identified from pedigrees clearly consistent with ADRP or who had had DNA-testing...
Many genes from retinoid metabolism cause retinitis pigmentosa. Peropsin, an opsin-like protein with unknown function, is specifically expressed in apical retinal pigment epithelium microvilli. Since rhodopsin and RGR, another opsin-like protein, cause retinitis pigmentosa, we used D-HPLC to...
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