Results 31 to 40 of about 417,668 (180)
Common ABCA4 mutations in South Africans: frequencies, pathogenicity and genotype-phenotype correlations [PDF]
, 2010 Stargardt disease (STGD), a juvenile-onset form of macular dystrophy resulting in a severe reduction of central vision, may be inherited in either an autosomal recessive or autosomal dominant manner.
Nossek, C
core +1 more source
The phenotypic variability of HK1-associated retinal dystrophy
Scientific Reports, 2017 Inherited retinal dystrophies (IRDs) are a clinically and genetically heterogeneous group of Mendelian disorders primarily affecting photoreceptor cells.
Zhisheng Yuan +12 more
doaj +1 more source
Central areolar choroidal dystrophy with associated dominant drusen
Journal of Optometry, 2013 Introduction: Central areolar choroidal dystrophy (CACD) is a rare, inherited disease that can lead to profound visual disturbance. It is characterized by atrophic changes, particularly in the macula.
Julie Rodman, Greg Black, Albert Woods
doaj +1 more source
Clinical disorders affecting mesopic vision [PDF]
, 2006 Vision in the mesopic range is affected by a number of inherited and acquired clinical disorders. We review these conditions and summarize the historical background, describing the clinical characteristics alongside the genetic basis and molecular ...
Gordon T. Plant +3 more
core +1 more source
American Journal of Ophthalmology Case Reports, 2018 Purpose: To report a unique case of atypical Coats' Syndrome in an 80 year old female with facioscapulohumeral dystrophy. Observations: An 80 years old female was diagnosed clinically of retinal telangiectasia with exudation threatening the fovia.
Rashmi Akshikar +4 more
doaj +1 more source
Frontiers in Cellular Neuroscience, 2023 Photoreceptors possess a highly specialized primary cilium containing expanded ciliary membrane discs called the outer segment. The photoreceptor cilium is essential for the maintenance of the outer segment, and pathogenic variants in more than 50 cilia ...
Kei Takahashi +4 more
doaj +1 more source
Choroidal thickness profile in inherited retinal diseases in Indian subjects
Indian Journal of Ophthalmology, 2015 Purpose: To evaluate changes in choroidal thickness (CT) in inherited retinal diseases and its relationship with age, spherical equivalent, visual acuity, and macular thickness.
Jay Chhablani +3 more
doaj +1 more source
Report of a Rare Syndromic Retinal Dystrophy: Asphyxiating Thoracic Dystrophy (Jeune Syndrome) [PDF]
Jeune 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.
Gülipek Tigrel, Batuhan Aksoy
core +1 more source
American Journal of Ophthalmology Case ReportsPurpose: To report a patient with cone dystrophy and a striking tapetal reflex caused by a novel variant in TTLL5, which was initially missed by a local retinal specialist due to inaccurate phenotyping of macular dystrophy.
Yi Zhai, Rita Kodida, Brian G. Ballios
doaj +1 more source
, 2013 Maternally inherited diabetes and deafness (MIDD) is an autosomal dominant inherited syndrome caused by the mitochondrial DNA (mtDNA) nucleotide mutation A3243G.
Morris, C. Phillip, Feigl, Beatrix
core +1 more source