Fundus albipunctatus associated with cone dystrophy.
نویسندگان
چکیده
منابع مشابه
Young monozygotic twin sisters with fundus albipunctatus and cone dystrophy.
OBJECTIVE To describe young monozygotic twin sisters with fundus albipunctatus (a type of autosomal recessive stationary night blindness caused by mutations of the 11-cis retinol dehydrogenase gene [RDH5]) associated with cone dystrophy, previously reported in elderly men. METHODS Ophthalmologic examinations were performed, and the RDH5 gene was analyzed by direct genomic sequencing. RESULT...
متن کاملA high association with cone dystrophy in Fundus albipunctatus caused by mutations of the RDH5 gene.
PURPOSE To analyze the RDH5 gene in patients with fundus albipunctatus with and without cone dystrophy and to determine whether the disease is stationary or progressive and whether the cone dystrophy is a part of fundus albipunctatus or a separate disease. METHODS Fourteen patients from 12 separate Japanese families with fundus albipunctatus were examined. Six of the patients from 6 families ...
متن کاملHigh-definition optical coherence tomographic visualization of photoreceptor layer and retinal flecks in fundus albipunctatus associated with cone dystrophy.
T he frequency of unintended vein or peripheral nerve biopsy with temporal artery biopsy has not been addressed specifically in the literature. The results of an inadvertent biopsy of a temporal vein or branch of the facial or auriculotemporal nerve are not inconsequential. Depending on the precise location in the temporal region and the type of peripheral nerve (motor or sensory), inadvertent ...
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 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: British Journal of Ophthalmology
سال: 1992
ISSN: 0007-1161
DOI: 10.1136/bjo.76.6.375