Results 31 to 40 of about 19,769 (229)
Outer Retinal Structure in Best Vitelliform Macular Dystrophy [PDF]
, 2013 Importance Demonstrating the utility of adaptive optics scanning light ophthalmoscopy (AOSLO) to assess outer retinal structure in Best vitelliform macular dystrophy (BVMD).
Carroll, Joseph +7 more
core +3 more sources
Dog Models for Blinding Inherited Retinal Dystrophies [PDF]
Human Gene Therapy Clinical Development, 2015 Spontaneous canine models exist for several inherited retinal dystrophies. This review will summarize the models and indicate where they have been used in translational gene therapy trials. The RPE65 gene therapy trials to treat childhood blindness are a good example of how studies in dogs have contributed to therapy development.
Simon M, Petersen-Jones +1 more
openaire +2 more sources
Inherited Macular Dystrophies in a Tertiary Care Centre
Journal of Nepal Health Research Council, 2020 Background: Inherited macular dystrophies constitute a group of diseases characterized by bilateral central visual loss with symmetrical macular abnormalities usually presenting in the first two decades of life.
Priyanka Shrestha +7 more
doaj +1 more source
Early onset retinal dystrophies: clinical clues to diagnosis for pediatricians
Italian Journal of Pediatrics, 2019 Introduction Inherited retinal dystrophies are major cause of severe progressive vision loss in children. Early recognition and diagnosis are essential for timely visual rehabilitation during the appropriate stages of the visual development, as well as ...
Agnese Suppiej +6 more
doaj +1 more source
Mutation in the guanine nucleotide-binding protein beta-3 causes retinal degeneration and embryonic mortality in chickens [PDF]
, 2006 PURPOSE. To identify the gene defect that causes blindness and the predisposition to embryonic death in the retinopathy globe enlarged (rge) chicken. METHODS.
Ali, Manir +6 more
core +1 more source
Low‐contrast visual acuity versus low‐luminance visual acuity in choroideremia
Clinical and Experimental Optometry, EarlyView., 2020 Clinical relevance Choroideremia is a progressive X‐linked inherited rod‐cone dystrophy. Patients present with nyctalopia and progressive visual field loss, but visual acuity remains well preserved early on. This study showed that low‐luminance visual acuity may be a useful clinical outcome measure during earlier disease stages.
Laura J Wood +6 more
wiley +1 more source
Frontiers in Cellular Neuroscience, 2023 Photoreceptors possess a highly specialized primary cilium containing expanded ciliary membrane discs called the outer segment. The photoreceptor cilium is essential for the maintenance of the outer segment, and pathogenic variants in more than 50 cilia ...
Kei Takahashi +4 more
doaj +1 more source
Late-Onset Retinal Degeneration: Clinical Perspectives
Clinical Ophthalmology, 2022 Leonardo Lando,1,2 Shyamanga Borooah1 1Shiley Eye Institute, University of California San Diego, La Jolla, CA, USA; 2Department of Ophthalmology and Vision Sciences, University of Toronto, Toronto, ON, CanadaCorrespondence: Shyamanga Borooah, Shiley Eye ...
Lando L, Borooah S
doaj
The phenotypic variability of HK1-associated retinal dystrophy
Scientific Reports, 2017 Inherited retinal dystrophies (IRDs) are a clinically and genetically heterogeneous group of Mendelian disorders primarily affecting photoreceptor cells.
Zhisheng Yuan +12 more
doaj +1 more source
Central areolar choroidal dystrophy with associated dominant drusen
Journal of Optometry, 2013 Introduction: Central areolar choroidal dystrophy (CACD) is a rare, inherited disease that can lead to profound visual disturbance. It is characterized by atrophic changes, particularly in the macula.
Julie Rodman, Greg Black, Albert Woods
doaj +1 more source