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[Fundus albipunctatus with mutations in the RDH5 gene (clinical case)].
Vestn Oftalmol
February 2021
Helmholtz National Medical Research Center of Eye Diseases, Moscow, Russia.
Article Synopsis
- A 14-year-old patient with RDH5 mutations was diagnosed with fundus albipunctatus, exhibiting known and novel genetic changes in the RDH5 gene.
- The patient's visual acuity was perfect (20/20), but they experienced nyctalopia and abnormal electroretinogram (ERG) results, indicating issues with both scotopic and photopic vision.
- Imaging techniques revealed characteristic fuzzy autofluorescence patterns and thickening in the photoreceptor outer segment, corresponding to the observed retinal flecks.
Fluorescence adaptive optics scanning laser ophthalmoscope for detection of reduced cones and hypoautofluorescent spots in fundus albipunctatus.
JAMA Ophthalmol
September 2014
Center for Visual Science, University of Rochester, Rochester, New York2Flaum Eye Institute, University of Rochester, Rochester, New York.
Importance: Fundus albipunctatus (FA) is a form of congenital stationary night blindness characterized by yellow-white spots, which were classically described as subretinal. Although night blindness and delayed dark adaptation are hallmarks of this condition, recent studies have described a macular phenotype, particularly among older patients. Using a fluorescence adaptive optics scanning laser ophthalmoscope (FAOSLO), this study provides in vivo morphologic data at the cellular level in FA.
View Article and Find Full Text PDFFundus albipunctatus in a 6-year old girl due to compound heterozygous mutations in the RDH5 gene.
Doc Ophthalmol
September 2007
Retinal Degeneration and Ophthalmic Genetics Service, Hamilton Eye Institute, Department of Ophthalmology, University of Tennessee Health Science Center, 930 Madison Avenue, Suite 731, Memphis, TN 38163, USA.
We report a case study of Fundus Albipunctatus (FA) due to compound heterozygous mutations in RDH5, the gene encoding for the 11-cis-retinal dehydrogenase (RDH). A 6-year old Hispanic American female with a clinical presentation suggestive of FA underwent dark-adapted full-field flash electroretinography (ERG) at 30 and 120 min. The pattern of ERG abnormalities was consistent with the working diagnosis FA.
View Article and Find Full Text PDFAlbipunctate retinopathy with cone dysfunction and no abnormality in the RDH5 or RLBP1 genes.
Retina
August 2003
Department of Ophthalmology, A-157, Stanford University School of Medicine, Stanford, CA 94305-5308, USA.
Plasma lipid abnormalities in retinitis pigmentosa and related conditions.
Trans Ophthalmol Soc U K (1962)
September 1984
Plasma samples obtained from 69 fasting retinitis pigmentosa (RP) patients and 110 controls were assayed for cholesterol, triglycerides, lipoproteins, and fatty acids. It was found that many RP patients were hyperlipidaemic compared to their spouses and siblings, as well as compared to unrelated controls. This hyperlipideaemia was particularly severe in men over 35 years of age, and in hemizygotes in X-linked families.
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