Results 41 to 50 of about 10,317 (215)

Adaptive optics imaging of inherited retinal diseases. [PDF]

, 2017
Adaptive optics (AO) ophthalmoscopy allows for non-invasive retinal phenotyping on a microscopic scale, thereby helping to improve our understanding of retinal diseases.
Carroll, J, Dubra, A, Georgiou, M, Kalitzeos, A, Michaelides, M, Patterson, EJ   +5 more
core   +1 more source

Stargardt Disease

Tripathy K, Kaur K.
europepmc   +3 more sources

The New Pretender: A Large UK Case Series of Retinal Injuries in Children Secondary to Handheld Lasers [PDF]

, 2016
Purpose: To characterize a large single-center series of retinal injuries in children secondary to handheld laser devices, with emphasis on potential prognostic factors. / Design: Retrospective case series.
Bradley, P, Michaelides, M, Moore, AT, Raoof, N, Theodorou, M   +4 more
core   +1 more source

A case of pentosan polysulfate maculopathy originally diagnosed as stargardt disease

American Journal of Ophthalmology Case Reports, 2020
Purpose: To describe a patient with a past diagnosis of Stargardt disease that was later determined to be pentosan polysulfate (PPS) maculopathy. Observations: The patient had clinical and imaging findings uncharacteristic of Stargardt disease.
Robin A. Vora, Amar P. Patel, Sam S. Yang, Ronald Melles   +3 more
doaj   +1 more source

Diagnostic exome sequencing in 266 Dutch patients with visual impairment [PDF]

, 2017
Inherited eye disorders have a large clinical and genetic heterogeneity, which makes genetic diagnosis cumbersome. An exome-sequencing approach was developed in which data analysis was divided into two steps: the vision gene panel and exome analysis.
Boon, C.J.F. (Camiel), Born, L.I. (Ingeborgh) van den, Breuning, M.H. (Martijn), Castelein, S. (Steven), Cremers, F.P.M. (Frans), Haer-Wigman, L. (Lonneke), Hagen, J.M. (Johanna) van, Hehir-Kwa, J. (Jayne), Hoefsloot, E.H. (Lies), Hoyng, C.B. (Carel), Kievit, A.J.A. (Anneke J.A.), Klaver, C.C.W. (Caroline), Kroes, H.Y. (Hester), Lelieveld, S.H. (Stefan H.), Lugtenberg, D. (Dorien), Nelen, M.R. (Marcel), Pfundt, R. (Rolph), Plomp, A. (Astrid), Pott, J.W.R., Sallevelt, S.C.E.H. (Suzanne), Scheffer, H. (Hans), Verheij, J.B. (Joke), Verhoeven, V.J.M. (Virginie), Yntema, H.G., Zelst-Stams, W.A. van   +24 more
core   +1 more source

ABCA4-Associated Stargardt Disease

Klinische Monatsblätter für Augenheilkunde, 2020
AbstractAutosomal recessive Stargardt disease (STGD1) is associated with variants in the ABCA4 gene. The phenotypes range from early-onset STGD1, that clinically resembles severe cone-rod dystrophy, to intermediate STGD1 and late-onset STGD1. These different phenotypes can be correlated with different combinations of ABCA4 variants which can be ...
Khan, M., Cremers, F.
openaire   +4 more sources

Identification and functional validation of a novel disease‐causing variant in the noncoding region of NYX

Acta Ophthalmologica, EarlyView.
Abstract Purpose Inherited retinal diseases (IRDs) are a clinically and genetically heterogeneous group of disorders, with ~30% of cases remaining genetically unsolved. Complete congenital stationary night blindness (cCSNB) is a subtype of IRD, usually associated with reduced visual acuity, nystagmus and high myopia.
Filip Spanic, Christelle Michiels, Julien Navarro, Aline Antonio, Christel Condroyer, Camille Andrieu, Billy Gipsy, Sylvie Berthémy‐Pellet, Mathilde Gallice, Isabelle Audo, Christina Zeitz   +10 more
wiley   +1 more source

Phenotype–genotype correlations in a pseudodominant Stargardt disease pedigree due to a novel ABCA4 deletion–insertion variant causing a splicing defect

Molecular Genetics & Genomic Medicine, 2020
Background Deletion–insertion (delins) variants in the retina‐specific ATP‐binding cassette transporter gene, subfamily A, member 4 (ABCA4) accounts for
Di Huang, Jennifer A. Thompson, Jason Charng, Enid Chelva, Samuel McLenachan, Shang‐Chih Chen, Dan Zhang, Terri L. McLaren, Tina M. Lamey, Ian J. Constable, John N. De Roach, May Thandar Aung‐Htut, Abbie Adams, Sue Fletcher, Steve D. Wilton, Fred K. Chen   +15 more
doaj   +1 more source

New and emerging technologies for the treatment of inherited retinal diseases: a horizon scanning review. [PDF]

, 2015
The horizon scanning review aimed to identify new and emerging technologies in development that have the potential to slow or stop disease progression and/or reverse sight loss in people with inherited retinal diseases (IRDs).
Michaelides, M, Moore, AT, Simpson, S, Smith, J, Ward, D   +4 more
core  

Macular dystrophy associated with the mitochondrial DNA A3243G mutation: pericentral pigment deposits or atrophy? Report of two cases and review of the literature. [PDF]

, 2014
BACKGROUND: The A3243G point mutation in mitochondrial DNA (mtDNA) is associated with MELAS (mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes) and MIDD syndromes (maternally inherited diabetes and deafness).
Borruat, F.X., Daruich, A., Matet, A.
core   +1 more source