Results 21 to 30 of about 264,225 (169)
Case Reports in Ophthalmology, 2018 Purpose: We report an unusual case of rapid and severe anterior capsular contraction associated with secondary intraocular lens (IOL) dislocation following cataract surgery in a patient with unspecified rod-cone dystrophy.
Jocelyn Lam, Bradley Sifrig, Hoon Jung
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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
Whole-exome sequencing in 168 Korean patients with inherited retinal degeneration
BMC Medical Genomics, 2021 Background To date, no genetic analysis of inherited retinal disease (IRD) using whole-exome sequencing (WES) has been conducted in a large-scale Korean cohort.
Dae Joong Ma +8 more
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Redox Biology, 2021 Methionine sulfoxide reductase A (MsrA) is a widely expressed antioxidant enzyme that counteracts oxidative protein damage and contributes to protein regulation by reversing oxidation of protein methionine residues.
Francesca Mazzoni +4 more
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Mutations in CNNM4 Cause Recessive Cone-Rod Dystrophy with Amelogenesis Imperfecta [PDF]
, 2009 Cone-rod dystrophies are inherited dystrophies of the retina characterized by the accumulation of deposits mainly localized to the cone-rich macular region of the eye. Dystrophy can be limited to the retina or be part of a syndrome.
Chouery, Eliane +26 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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Various phenotypes of autosomal dominant cone-rod dystrophy with cone-rod homeobox mutation in two Chinese families [PDF]
International Journal of Ophthalmology, 2022 AIM: To present the clinical manifestations of 5 autosomal dominant cone-rod dystrophy (adCORD) patients from two Chinese families with cone-rod homeobox (CRX) mutation (p.R41W), and to explore the clinical heterogeneity of adCORD with CRX mutation (p ...
Hui Cui +6 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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Frontiers in Molecular Neuroscience, 2014 RNA interference (RNAi) knockdown is an efficacious therapeutic strategy for silencing genes causative for dominant retinal dystrophies. To test this, we used self-complementary (sc) AAV2/8 vector to develop an RNAi-based therapy in two dominant retinal ...
Li eJiang +2 more
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An autopsy study of a familial oculopharyngeal muscular dystrophy (OPMD) with distal spread and neurogenic involvement [PDF]
, 1981 An 81-year-old man from a family with a history of oculopharyngeal muscular dystrophy (OPMD) involving 6 members over 4 generations is described. The patient first noted drooping of his eyelids at the age of 65.
Krause, Klaus-Henning, Schmitt, H.-P.
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