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OUTER RETINAL COLUMNAR ABNORMALITIES: A Novel Optical Coherence Tomography Sign of CRB1 Maculopathy?
Retina
November 2024
Moorfields Eye Hospital NHS Foundation Trust, London, United Kingdom ; and.
Purpose: To report a novel optical coherence tomography sign in the context of CRB1 -related maculopathy termed outer retinal columnar abnormalities (ORCA).
Methods: Retrospective, multicenter, observational case series of 14 eyes of eight patients with molecularly confirmed CRB1 -related maculopathy and ORCA. Multimodal imaging scans and medical records of patients with CRB1 -related maculopathy were reviewed.
Foveal Hypoplasia in -Related Retinopathies.
Int J Mol Sci
September 2023
UCL Institute of Ophthalmology, London EC1V 9EL, UK.
The gene plays a role in retinal development and its maintenance. When disrupted, it gives a range of phenotypes such as early-onset severe retinal dystrophy/Leber congenital amaurosis (EOSRD/LCA), retinitis pigmentosa (RP), cone-rod dystrophy (CORD) and macular dystrophy (MD). Studies in retinopathies have shown thickening and coarse lamination of retinal layers resembling an immature retina.
View Article and Find Full Text PDF-Related Retinal Dystrophies in a Cohort of 50 Patients: A Reappraisal in the Light of Specific Müller Cell and Photoreceptor Isoforms.
Int J Mol Sci
November 2021
National Reference Centre for Inherited Sensory Diseases, University of Montpellier, Montpellier University Hospital, Sensgene Care Network, ERN-EYE Network, 34000 Montpellier, France.
Pathogenic variants in lead to diverse recessive retinal disorders from severe Leber congenital amaurosis to isolated macular dystrophy. Until recently, no clear phenotype-genotype correlation and no appropriate mouse models existed. Herein, we reappraise the phenotype-genotype correlation of 50 patients with regards to the recently identified isoforms: a canonical long isoform A localized in Müller cells (12 exons) and a short isoform B predominant in photoreceptors (7 exons).
View Article and Find Full Text PDF-related retinopathy overlapping the ocular phenotype of S-adenosylhomocysteine hydrolase deficiency.
Ophthalmic Genet
October 2020
Department of Ophthalmology and Vision Sciences, The Hospital for Sick Children, Toronto, Canada.
Background: S-adenosylhomocysteine hydrolase deficiency due to pathologic variants in gene is a rare neurometabolic disease for which no eye phenotype has been documented. Pathologic variants in gene are known to cause a wide spectrum of autosomal recessive retinal diseases with Leber's congenital amaurosis as a most common. The aim of this study is to report co-inheritance of neurometabolic disease and eye disease in a pedigree.
View Article and Find Full Text PDFCRB1 related retinal degeneration with novel mutation.
Am J Ophthalmol Case Rep
June 2020
William Beaumont Hospital, 3555 W. 13 Mile Road, Suite LL-20, Royal Oak, MI, 48073, USA.
Purpose: To describe novel and previously unreported genetic mutations in the CRB1 gene in a patient with retinal dystrophy. To increase the genotype-phenotype understanding of CRB1-related retinal degenerative diseases and describe patients' response to therapy.
Observations: Patient was evaluated for progressive loss of central and peripheral vision.
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