Biochemical Defects in 11-cis-Retinol Dehydrogenase Mutants Associated with Fundus Albipunctatus
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چکیده
منابع مشابه
Mutations in the 11-cis retinol dehydrogenase gene in Japanese patients with Fundus albipunctatus.
PURPOSE To detect mutations in the RDH5 gene encoding 11-cis retinol dehydrogenase in patients from Japan with fundus albipunctatus. METHODS Polymerase chain reaction and direct genomic sequencing techniques were used to detect mutations of the RDH5 coding exons (exons 2-5) in two unrelated patients with fundus albipunctatus. Selected alleles that altered the coding region or intron splice si...
متن کامل11-cis retinol dehydrogenase mutations as a major cause of the congenital night-blindness disorder known as fundus albipunctatus.
PURPOSE Patients with fundus albipunctatus uniformly experience difficulty with vision at night. Their retinas are spotted with characteristic light yellow flecks of unknown composition that typically spare the macula. A defect in the transport or utilization of visual cycle retinoids is thought to underlie this recessive disorder with variable clinical expression. To elucidate the molecular de...
متن کاملLong-term fundus changes due to Fundus albipunctatus associated with mutations in the RDH5 gene.
Report of a Case. A 56-year-old woman had a 2-month history of decreased vision and mild discomfort in the left eye. She had a history of penetrating injuryat theageof8years that led to traumatic cataract and corneal scarring in her left eye. Two years before we saw her, she had undergone uncomplicatedcombinedcataractextraction and lens implantation with penetrating keratoplasty elsewhere. Ther...
متن کاملCharacterization of a dehydrogenase activity responsible for oxidation of 11-cis-retinol in the retinal pigment epithelium of mice with a disrupted RDH5 gene. A model for the human hereditary disease fundus albipunctatus.
In the vertebrate retina, the final step of visual chromophore production is the oxidation of 11-cis-retinol to 11-cis-retinal. This reaction is catalyzed by 11-cis-retinol dehydrogenases (11-cis-RDHs), prior to the chromophore rejoining with the visual pigment apo-proteins. The RDH5 gene encodes a dehydrogenase that is responsible for the majority of RDH activity. In humans, mutations in this ...
متن کاملFundus albipunctatus-like lesions in juvenile retinoschisis.
1 Sonoda T, Hashimoto H, Enjoji M. Juvenile xanthogranuloma: clinicopathological analysis and immnunohistochemical study of 57 patients. Cancer 1985; 56: 2280-6. 2 Zimmerman LE. Ocular lesions of juvenile xanthogranuloma. AmJI Ophthalmol 1965; 60: 1011-35. 3 Collum LMT, Mullaney J. Adult limbal xanthogranuloma. BrJ Ophthalmol 1984; 68: 360-3. 4 Lewis JR, Drummond GT, Mielke BW, Hassard DT, Astl...
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ژورنال
عنوان ژورنال: Journal of Biological Chemistry
سال: 2001
ISSN: 0021-9258
DOI: 10.1074/jbc.m107337200