Results 21 to 30 of about 10,452 (214)
Clinical exome sequencing for inherited retinal degenerations at a tertiary care center
Scientific Reports, 2022 Inherited retinal degenerations are clinically and genetically heterogeneous diseases characterized by progressive deterioration of vision. This study aimed at assessing the diagnostic yield of exome sequencing (ES) for an unselected cohort of ...
Mythily Ganapathi +15 more
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The origins of the full-field flash electroretinogram b-wave
Frontiers in Molecular Neuroscience, 2023 The electroretinogram (ERG) measures the electrical activity of retinal neurons and glial cells in response to a light stimulus. Amongst other techniques, clinicians utilize the ERG to diagnose various eye diseases, including inherited conditions such as
Yashvi Bhatt +5 more
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eLife, 2021 The RLBP1 gene encodes the 36 kDa cellular retinaldehyde-binding protein, CRALBP, a soluble retinoid carrier, in the visual cycle of the eyes. Mutations in RLBP1 are associated with recessively inherited clinical phenotypes, including Bothnia dystrophy ...
Domino K Schlegel +3 more
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Frontiers in Molecular Neuroscience, 2023 During routine screening of mouse strains and stocks by the Eye Mutant Resource at The Jackson Laboratory for genetic mouse models of human ocular disorders, we identified cpfl9, a mouse model with cone photoreceptor function loss.
Anna S. E. N. Naggert +4 more
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Orphanet Journal of Rare Diseases, 2007 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 (
openaire +3 more sources
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
Case Reports in Ophthalmology, 2019 We report a case of bilateral serous retinal detachment in a patient with rod-cone dystrophy caused by mutation of BEST1. This followed creatine monohydrate use as a dietary supplement.
Konstantinos Kopsidas +5 more
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Managing visual symptoms in cone-rod dystrophy with prosthetic soft contact lens: A case report
Indian Journal of Ophthalmology. Case Reports, 2023 This case demonstrates the utilization of a prosthetic type C contact lens to manage visual symptoms such as photophobia and glare in patients with cone-rod dystrophy.
Manju Balakrishnan, Asif Iqbal
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Acta Medica Iranica, 2020 Cone-rod dystrophy (CORD) is one of the most common genetic eye disorders. Recent genetic studies have demonstrated that it is a genetically heterogeneous disease among patients.
Shahram Nasiri +3 more
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Cellular and Molecular Mechanisms of Pathogenesis Underlying Inherited Retinal Dystrophies
Biomolecules, 2023 Inherited retinal dystrophies (IRDs) are congenital retinal degenerative diseases that have various inheritance patterns, including dominant, recessive, X-linked, and mitochondrial.
Andrew Manley +3 more
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