منابع مشابه
Cone rod dystrophies
Cone rod dystrophies (CRDs) (prevalence 1/40,000) are inherited retinal dystrophies that belong to the group of pigmentary retinopathies. CRDs are characterized by retinal pigment deposits visible on fundus examination, predominantly localized to the macular region. In contrast to typical retinitis pigmentosa (RP), also called the rod cone dystrophies (RCDs) resulting from the primary loss in r...
متن کاملVisual acuity changes in cone and cone-rod dystrophies.
PURPOSE The purpose of the study was to evaluate longitudinal visual acuity (VA) changes in cone (CD) and cone-rod dystrophies (CRD) in order to develop recommendations for follow-up strategies and to define an optimal time for potential therapeutic intervention. METHODS Patients with clinically defined CD and CRD, who had at least three clinical examinations within a follow-up period of a mi...
متن کاملAlterations of L- and M-cone driven ERGs in cone and cone–rod dystrophies
To study the L- and M-cone pathways and their interactions in patients with cone and cone-rod dystrophies, ERG responses were measured to stimuli which modulated exclusively the L- or the M-cones, or the two simultaneously. The L- and M-cone driven ERG amplitudes were considerably reduced in the patients. The mean phases of the L-cone driven ERGs in the patients lagged those of normals signific...
متن کاملWide-field fundus autofluorescence abnormalities and visual function in patients with cone and cone-rod dystrophies.
PURPOSE To evaluate the clinical utility of wide-field fundus autofluorescence (FAF) in patients with cone dystrophy and cone-rod dystrophy. METHODS Sixteen patients with cone dystrophy (CD) and 41 patients with cone-rod dystrophy (CRD) were recruited at one institution. The right eye of each patient was included for analysis. We obtained wide-field FAF images using a ultra-widefield retinal ...
متن کاملEYS is a major gene for rod-cone dystrophies in France.
Autosomal-recessive retinitis pigmentosa (arRP) was recently associated with mutations in a novel gene EYS, spanning over 2 Mb, making it the largest known gene expressed in the human eye. The purpose of this study was to establish the prevalence and nature of EYS mutations in a clinically well-characterized cohort of 239 sporadic and arRP French cases. Direct sequencing of EYS was performed in...
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ژورنال
عنوان ژورنال: Orphanet Journal of Rare Diseases
سال: 2007
ISSN: 1750-1172
DOI: 10.1186/1750-1172-2-7