Genetic testing for cone rod dystrophies
نویسندگان
چکیده
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 کاملGenetic Testing for Limb-Girdle Muscular Dystrophies
©2017 Blue Cross and Blue Shield of Louisiana An independent licensee of the Blue Cross and Blue Shield Association No part of this publication may be reproduced, stored in a retrieval system, or transmitted, in any form or by any means, electronic, mechanical, photocopying, or otherwise, without permission from Blue Cross and Blue Shield of Louisiana. Page 1 of 23 Applies to all products admin...
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 کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: The EuroBiotech Journal
سال: 2017
ISSN: 2564-615X
DOI: 10.24190/issn2564-615x/2017/s1.11