Congenital stationary night blindness: an analysis and update of genotype–phenotype correlations and pathogenic mechanisms
C Zeitz, AG Robson, I Audo - Progress in retinal and eye research, 2015 - Elsevier
Congenital stationary night blindness (CSNB) refers to a group of genetically and clinically
heterogeneous retinal disorders. Seventeen different genes with more than 360 different …
heterogeneous retinal disorders. Seventeen different genes with more than 360 different …
Structural and functional changes in the retina in Parkinson's disease
Parkinson's disease is caused by degeneration of dopaminergic neurons, originating in the
substantia nigra pars compacta and characterised by bradykinesia, rest tremor and rigidity …
substantia nigra pars compacta and characterised by bradykinesia, rest tremor and rigidity …
[HTML][HTML] Genetic basis of inherited retinal disease in a molecularly characterized cohort of more than 3000 families from the United Kingdom
Purpose In a large cohort of molecularly characterized inherited retinal disease (IRD)
families, we investigated proportions with disease attributable to causative variants in each …
families, we investigated proportions with disease attributable to causative variants in each …
Electrodiagnostic tests of the visual pathway and applications in neuro-ophthalmology
This article describes the main visual electrodiagnostic tests relevant to neuro-
ophthalmology practice, including the visual evoked potential (VEP), and the full-field …
ophthalmology practice, including the visual evoked potential (VEP), and the full-field …
Next-generation sequencing applied to a large French cone and cone-rod dystrophy cohort: mutation spectrum and new genotype-phenotype correlation
E Boulanger-Scemama, S El Shamieh… - Orphanet journal of rare …, 2015 - Springer
Background Cone and cone-rod dystrophies are clinically and genetically heterogeneous
inherited retinal disorders with predominant cone impairment. They should be distinguished …
inherited retinal disorders with predominant cone impairment. They should be distinguished …
Ocular siderosis: a misdiagnosed cause of visual loss due to ferrous intraocular foreign bodies—epidemiology, pathogenesis, clinical signs, imaging and available …
G Casini, F Sartini, P Loiudice, G Benini… - Documenta …, 2021 - Springer
Purpose The purpose of this paper is to provide a meaningful literature review about the
epidemiology, pathogenesis, clinical signs, imaging and treatment of ocular siderosis (OS) …
epidemiology, pathogenesis, clinical signs, imaging and treatment of ocular siderosis (OS) …
Clinical and functional evaluation of ocular inflammatory disease using the model of experimental autoimmune uveitis
J Chen, RR Caspi - Immunological Tolerance: Methods and Protocols, 2019 - Springer
Non-infections uveitis in humans is an autoimmune disease of the retina and uvea that can
be blinding if untreated. Its laboratory equivalent is experimental autoimmune uveitis (EAU) …
be blinding if untreated. Its laboratory equivalent is experimental autoimmune uveitis (EAU) …
ISCEV extended protocol for the dark-adapted red flash ERG
DA Thompson, K Fujinami, I Perlman… - Documenta …, 2018 - Springer
Abstract The International Society for Clinical Electrophysiology of Vision (ISCEV) standard
for full-field electroretinography (ERG) describes a minimum procedure, but encourages …
for full-field electroretinography (ERG) describes a minimum procedure, but encourages …
Functional evaluation in inherited retinal disease
MD Varela, M Georgiou, SA Hashem… - British Journal of …, 2022 - bjo.bmj.com
Functional assessments are a fundamental part of the clinical evaluation of patients with
inherited retinal diseases (IRDs). Their importance and impact have become increasingly …
inherited retinal diseases (IRDs). Their importance and impact have become increasingly …
KCNV2 retinopathy: clinical features, molecular genetics and directions for future therapy
ABSTRACT KCNV2-associated retinopathy or “cone dystrophy with supernormal rod
responses” is an autosomal recessive cone-rod dystrophy with pathognomonic ERG …
responses” is an autosomal recessive cone-rod dystrophy with pathognomonic ERG …