Results 41 to 50 of about 19,769 (229)

The Epidemiology of Stargardt Disease in the United Kingdom [PDF]

, 2017
The authors thank the British Ophthalmological Surveillance Unit (BOSU) for the support received, as well as Mr Barnaby Foot, research coordinator for BOSU, for his help and advice on this project.
Bainbridge, James, Downes, Susan, Ho, Jason, Lois, Noemi, Scott, Neil W, Spiteri Cornish, Kurt   +5 more
core   +2 more sources

Atypical presentation of Coats' Syndrome in facioscapulohumeral dystrophy - Reflecting the variation in phenotypic manifestations

American Journal of Ophthalmology Case Reports, 2018
Purpose: To report a unique case of atypical Coats' Syndrome in an 80 year old female with facioscapulohumeral dystrophy. Observations: An 80 years old female was diagnosed clinically of retinal telangiectasia with exudation threatening the fovia.
Rashmi Akshikar, Rui Feng, Kiranpreet Gill, Luke Chehade, Edward Hughes   +4 more
doaj   +1 more source

Generation of a human induced pluripotent stem cell line from a Bietti crystalline corneoretinal dystrophy patient with CYP4V2 mutations

Stem Cell Research, 2021
Bietti crystalline corneoretinal dystrophy (BCD) is an autosomal recessively inherited progressive retinal disease. Here, we describe the generation and characterization of a human induced pluripotent stem cell (hiPSC) line of BCD patient with CYP4V2 ...
Shijing Wu, Tian Zhu, Zixi Sun, Xing Wei, Xiaoxu Han, Xuan Zou, Ruifang Sui   +6 more
doaj   +1 more source

Disruption of the basal body protein POC1B results in autosomal-recessive cone-rod dystrophy [PDF]

, 2014
Exome sequencing revealed a homozygous missense mutation (c.317C>G [p.Arg106Pro]) in POC1B, encoding POC1 centriolar protein B, in three siblings with autosomal-recessive cone dystrophy or cone-rod dystrophy and compound-heterozygous POC1B mutations (c ...
Arts, Heleen H, Coppieters, Frauke, Cremers, Frans PM, De Baere, Elfride, de Vrieze, Erik, den Hollander, Anneke I, Hetterschijt, Lisette, Hoyng, Carel B, Kremer, Hannie, Lambertus, Stanley, Lamers, Ideke JC, Letteboer, Stef JF, Peters, Theo A, POC1B Study Group, the, Roepman, Ronald, Roosing, Susanne, van den Born, L Ingeborgh, van Wijk, Erwin   +17 more
core   +2 more sources

Choroidal thickness profile in inherited retinal diseases in Indian subjects

Indian Journal of Ophthalmology, 2015
Purpose: To evaluate changes in choroidal thickness (CT) in inherited retinal diseases and its relationship with age, spherical equivalent, visual acuity, and macular thickness.
Jay Chhablani, Ashraya Nayaka, Padmaja Kumari Rani, Subhadra Jalali   +3 more
doaj   +1 more source

The Special Electrophysiological Signs of Inherited Retinal Dystrophies [PDF]

The Open Ophthalmology Journal, 2012
The study aim was to analyze the electrophysiological signs of inherited retinal dystrophies (IRD). Full-field and multifocal (mf) electroretinography (ERG) was analysed in three groups: 21 normal subjects, 21 randomly selected IRD patients, and 21 patients randomly selected from each of eleven IRD groups.
Prokofyeva, Elena, Tröger, Eric, Zrenner, Eberhart   +2 more
openaire   +3 more sources

Tapetal-like sheen as a key phenotypical feature in TTLL5-associated cone dystrophy caused by a novel variant

American Journal of Ophthalmology Case Reports
Purpose: To report a patient with cone dystrophy and a striking tapetal reflex caused by a novel variant in TTLL5, which was initially missed by a local retinal specialist due to inaccurate phenotyping of macular dystrophy.
Yi Zhai, Rita Kodida, Brian G. Ballios
doaj   +1 more source

Reviewing the Role of Ultra-Widefield Imaging in Inherited Retinal Dystrophies

Ophthalmology and Therapy, 2020
Inherited retinal dystrophies (IRD) are a heterogeneous group of rare chronic disorders caused by genetically determined degeneration of photoreceptors and retinal pigment epithelium cells.
Maria Vittoria Cicinelli, Alessandro Marchese, Alessandro Bordato, Maria Pia Manitto, Francesco Bandello, Maurizio Battaglia Parodi   +5 more
doaj   +1 more source

Photoreceptor Inner Segment Morphology in Best Vitelliform Macular Dystrophy [PDF]

, 2016
PURPOSE To characterize outer retina structure in best vitelliform macular dystrophy (BVMD) and to determine the effect of macular lesions on overlying and adjacent photoreceptors.
Carroll, Joseph, Cooper, Robert F., Dubra, Alfredo, Higgins, Brian P., Johnson, Ryan D., Scoles, Drew, Stepien, Kimberly E., Sulai, Yusufu N.   +7 more
core   +2 more sources

CRB1 mutation spectrum in inherited retinal dystrophies

Human Mutation, 2004
Mutations in the Crumbs homologue 1 (CRB1) gene have been reported in patients with a variety of autosomal recessive retinal dystrophies, including retinitis pigmentosa (RP) with preserved paraarteriolar retinal pigment epithelium (PPRPE), RP with Coats-like exudative vasculopathy, early onset RP without PPRPE, and Leber congenital amaurosis (LCA).
Hollander, A.I. den, Davis, J., Velde-Visser, S.D. van der, Zonneveld-Vrieling, M.N., Pierrottet, C.O., Koenekoop, R.K., Kellner, U., Born, L.I. van den, Heckenlively, J.R., Hoyng, C.B., Handford, P.A., Roepman, R., Cremers, F.P.M.   +12 more
openaire   +3 more sources