Autosomal dominant pattern dystrophy of the retina associated with a 4-base pair insertion at codon 140 in the peripherin/RDS gene. Arch Ophthalmol 1995; 113: 451–5.Kim RY, Dollfus H, Keen TJ et al.: Autosomal dominant pattern dystrophy of the retina associated with a 4-base pair ...
AUTOSOMAL DOMINANT PATTERN DYSTROPHY OF THE RETINAL PIGMENT EPITHELIUM Three members of a family were affected by a pattern dystrophy of the retinal pigment epithelium transmitted by autosomal dominant inheritance. In addition... GIUFFRè,GIUSEPPE - 《Retina》 被引量: 0发表: 1988年 Missense Mutations...
摘要: The 2 rare entities, pigmentary dispersion syndrome and pigmented pattern dystrophy of the retinal pigment epithelium, were found in a young male patient. Visual function was undisturbed.DOI: 10.1136/bjo.67.8.538 被引量: 26 年份: 1983 ...
We present two patients undergoing chronic chelation therapy due to thalassemias with bilateral macular pattern dystrophy studied through multimodal imaging and we review the existing literature. Case presentation Case 1 Α 54 year old Caucasian woman of Greek ancestry presented to the Retina Service of...
Cone photoreceptor regeneration in adult fish retina: phenotypic determination and mosaic pattern formation. Quantitative analysis of endothelial mosaic pattern changes in anterior keratoconus
Iconography : Reticular Pattern Dystrophy of the Retina: A Spectral-Domain Optical Coherence Tomography AnalysisAmerican Journal of Opthalmology - In Press.Proof corrected by the author Available online since jeudi 26 septembre 2013 - Iconography : Reticular Pattern Dystrophy of the Retina: A Spectral-...
Autosomal Dominant Pattern Dystrophy of the Retina Associated With a 4-Base Pair Insertion at Codon 140 in the Peripherin/RDS Gene Objective: To define the phenotype of a retinal dystrophy associated with a 4-base pair insertion at codon 140 of the peripherin/RDS gene.Patients: Six aff... ...
Seven had Stargardt disease, 1 bull's eye maculopathy, 5 age-related macular degeneration, 1 Best disease, and 1 pattern dystrophy. All tested eyes had... VC Greenstein,RAV Santos,SH Tsang,... - 《Retina》 被引量: 70发表: 2008年 Stargardt's disease and the ABCR gene. Stargardt''s ...
Moreover, the atrophic macular changes on OCT and FAF in correlation with the VF and mERG findings are consistent with the diagnosis of pattern dystrophy. In conclusion, ophthalmological assessment remains important in neurological disorders such as MS, before the initiation of ON treatment.Wiley...
Scotomas were identified that corresponded to atrophic lesions on the retina. Imaging revealed drusen, hyper-fluorescent flecks, migrating RPE, interruptions in the inner/outer-segment junction, and foveal sparing. Conclusions : Rod and cone sensitivity was decreased in subjects with the P210R mutation...