Results 111 to 120 of about 1,452,519 (228)
Temporal retinal nerve fiber loss in patients with spinocerebellar ataxia type 1.
PLoS ONE, 2011 BackgroundAutosomal dominant spinocerebellar ataxia type 1 is an adult onset progressive disorder with well characterized neurodegeneration in the cerebellum and brainstem.
Sarah Stricker +6 more
doaj +1 more source
Phytotherapy Research, EarlyView.ABSTRACT Vascular dementia (VaD), accounting for up to 20% of dementia cases globally, is primarily driven by chronic cerebral hypoperfusion (CCH), which leads to progressive cognitive impairment. Despite the increasing prevalence of VaD, effective treatments remain limited.
Jung‐Hoon Kim, Yongtaek Oh, Suin Cho
wiley +1 more source
Progressive autosomal dominant optic atrophy and sensorineural hearing loss in a Turkish family
, 2003 Purpose: To describe the clinical features, mode of inheritance, and linkage analysis of ten affected members of a three-generation family with progressive optic atrophy and progressive hearing loss. Materials and methods: The proband, a 10-year-old boy,
Wollnik, Bernd +7 more
core +1 more source
Andrology, EarlyView.ABSTRACT Sex chromosome aneuploidies represent a heterogeneous group of chromosomal conditions, in which phenotypic complexity generally increases with the number of supernumerary sex chromosomes. While Turner syndrome and sex chromosome trisomies are relatively well characterized, less is known about congenital malformations in sex chromosome ...
Anna Colding +3 more
wiley +1 more source
Progressive autosomal dominant optic atrophy and sensorineural hearing loss in a Turkish family.
, 2002 PURPOSE: To describe the clinical features, mode of inheritance, and linkage analysis of ten affected members of a three-generation family with progressive optic atrophy and progressive hearing loss. MATERIALS AND METHODS: The proband, a 10-year-old boy,
Bayramoğlu I +6 more
core +1 more source
Clinical manifestations of dual‐gene variants in retinitis pigmentosa
Acta Ophthalmologica, EarlyView.Abstract Purpose Retinitis pigmentosa (RP) is an inherited retinal disease (IRD), whereby each affected individual typically harbours pathogenic variants in a single causative gene, yet the disorder exhibits marked genetic heterogeneity, with more than 100 genes reported to underlie RP.
Lasse Wolfram +11 more
wiley +1 more source
Retinal dystrophies simulating geographic atrophy: A diagnostic challenge
Acta Ophthalmologica, EarlyView.Abstract Geographic atrophy (GA) is the chronic loss of retinal pigment epithelium, photoreceptors and choriocapillaris, marking the dry late stage of age‐related macular degeneration (AMD). GA prevalence is expected to rise in the upcoming decades. Advanced GA leads to central scotomas, reducing visual acuity and quality of life, potentially resulting
Johanna M. Colijn +3 more
wiley +1 more source
Kcnv2 E151X Mouse Captures Hallmarks of KCNV2‐Associated Retinal Dystrophy
Clinical &Experimental Ophthalmology, EarlyView.ABSTRACT Background KCNV2‐associated retinopathy is a rare inherited retinal dystrophy caused by variants in the KCNV2 gene, leading to disrupted photoreceptor behaviour and progressive deterioration of vision. Patients have characteristic electroretinography abnormalities, including reduced cone response, delayed and reduced rod response to low light ...
Nermina Xhaferri +3 more
wiley +1 more source
A New Case of Lethal Congenital Contracture Syndrome Type 3 With Hyperinsulinism and Optic Atrophy
Clinical Genetics, EarlyView.PIP5K1C‐related lethal congenital contracture syndrome with hyperinsulinism and optic atrophy. ABSTRACT Lethal congenital contracture syndrome 3 (LCCS3, MIM #611369) is a rare autosomal recessive neuromuscular disorder caused by biallelic loss‐of‐function (LOF) variants in PIP5K1C, reported in only two families to date.
Tameemi Abdalla Moady +3 more
wiley +1 more source
Analysis of Genetic Mutations in a Cohort of Hereditary Optic Neuropathy in Shanghai, China
Journal of Ophthalmology, 2017 Purpose. To evaluate the clinical classification and characteristics of hereditary optic neuropathy patients in a single center in China. Method. Retrospective case study.
Dekang Gan +4 more
doaj +1 more source