Results 11 to 20 of about 29,682 (236)
Expanding the phenotype of TTLL5-associated retinal dystrophy: a case series [PDF]
Orphanet Journal of Rare Diseases, 2022 Background Inherited retinal dystrophies describe a heterogeneous group of retinal diseases that lead to the irreversible degeneration of rod and cone photoreceptors and eventual blindness.
Jin Kyun Oh +15 more
doaj +2 more sources
CDHR1 variants in a Japanese family with inherited retinal dystrophy and intrafamilial phenotypic variability [PDF]
Frontiers in OphthalmologyIntroductionTo report a Japanese family with inherited retinal dystrophy (IRD) in which CDHR1 variants were identified, and to characterize the marked intrafamilial phenotypic variability.MethodsThis retrospective case series included three brothers ...
Toshiaki Hirakata +5 more
doaj +2 more sources
Novel Pathogenic Variants in IFT140 and IFT172 Genes in Three Patients with Similar Retinal Dystrophy Phenotypes [PDF]
Case Reports in OphthalmologyIntroduction: The intraflagellar transport (IFT) complex plays a key role in protein transport and turnover within photoreceptors. IFT140 and IFT172 gene mutations have been associated with skeletal ciliopathies that occur concurrently with ...
Jennifer Adeghate +4 more
doaj +2 more sources
Manifestation of a solitary retinal astrocytic hamartoma in a patient with Best macular dystrophy
American Journal of Ophthalmology Case Reports, 2019 Purpose: To report the case of an adolescent male with a history of Best macular dystrophy and retinal astrocytic hamartoma. Observations: A 15 year old male with a history of Best macular dystrophy who had been followed by ophthalmology for 9 years was ...
Stanford C. Taylor +2 more
doaj +2 more sources
Dystrophy or No Dystrophy: A Retinal Puzzle
Delhi Journal of OphthalmologyDiseases affecting the peripheral retina are usually associated with diminished rod photoreceptor function and thus present with nyctalopia, i.e., night blindness.
Hitisha Mittal +2 more
doaj +2 more sources
Low Vision Rehabilitation in Patients with Hereditary Retinal Dystrophy [PDF]
Türk Oftalmoloji Dergisi, 2015 Objectives: To examine the methods of low vision rehabilitation in patients with hereditary retinal dystrophy. Materials and Methods: This study was conducted in Ankara University Faculty of Medicine, Ophthalmology Department of Low Vision ...
İkbal Seza Petriçli +3 more
doaj +2 more sources
Retinal Structure in RPE65-Associated Retinal Dystrophy
Investigative Opthalmology & Visual Science, 2020 Purpose: RPE65-associated retinal dystrophy (RPE65-RD) is an early onset, progressive, severe retinal dystrophy. We sought to characterize the natural history of retinal degeneration in affected individuals.Methods: We performed cross-sectional and ...
Kumaran, N. +21 more
core +7 more sources
Report of a Rare Syndromic Retinal Dystrophy: Asphyxiating Thoracic Dystrophy (Jeune Syndrome) [PDF]
Turk J OphthalmolJeune syndrome (JS), first described by Jeune as asphyxiating thoracic dystrophy, is an autosomal recessive osteochondrodysplasia with characteristic skeletal abnormalities and variable renal, hepatic, pancreatic, and ocular complications.
Aksoy B, Tigrel G.
europepmc +2 more sources
Revista Brasileira de Oftalmologia, 2022 Reticular pigmentary retinal dystrophy, also known as Sjögren’s reticular dystrophy, is a rare condition characterized by macular lesions with a reticular pattern, which are best seen on fluorescein angiogram.
Carolina Campos Reis +3 more
doaj +1 more source
Fundus flavimaculatus-like in myotonic dystrophy: a case report
BMC Ophthalmology, 2021 Background Myotonic dystrophy is an inherited disease characterized by progressive muscle weakness and myotonia. It is a multisystemic disorder that affects different parts of the body, including the eye.
Eric Kirkegaard-Biosca +5 more
doaj +1 more source