Gene therapy in color vision deficiency: a review
ConclusionExperimental studies and clinical trials generally showed improvement in ERG-investigated cone cell functionality and visually elicited behavior. Gene therapy is a promising novel therapeutic modality in color vision deficiencies. (Source: International Ophthalmology)
Source: International Ophthalmology - February 2, 2021 Category: Opthalmology Source Type: research
Normal and abnormal foveal development.
Abstract
Normal foveal development begins in utero at midgestation with centrifugal displacement of inner retinal layers (IRLs) from the location of the incipient fovea. The outer retinal changes such as increase in cone cell bodies, cone elongation and packing mainly occur after birth and continue until 13 years of age. The maturity of the fovea can be assessed invivo using optical coherence tomography, which in normal development would show a well-developed foveal pit, extrusion of IRLs, thickened outer nuclear layer and long outer segments. Developmental abnormalities of various degrees can result in f...
Source: The British Journal of Ophthalmology - November 4, 2020 Category: Opthalmology Authors: Thomas MG, Papageorgiou E, Kuht HJ, Gottlob I Tags: Br J Ophthalmol Source Type: research
Genotypes and phenotypes of genes associated with achromatopsia: A reference for clinical genetic testing.
Conclusions: PPVs in the six genes were identified in various inherited retinal degeneration diseases, most of which are cone-dominant diseases but no rod-dominant diseases based on the data from a cohort of 7,195 probands with different eye conditions. The systematic genotype-phenotype analysis of these genes will be useful in drafting guidelines for the clinical genetic diagnostic application for the investigated genes.
PMID: 32913385 [PubMed - in process] (Source: Molecular Vision)
Source: Molecular Vision - September 13, 2020 Category: Molecular Biology Tags: Mol Vis Source Type: research
Molecular and clinical characterization of Thai patients with achromatopsia: identification of three novel disease-associated variants in the CNGA3 and CNGB3 genes
ConclusionsThis study demonstrated the first molecular and clinical characterization of ACHM in Thai patients. The identification of disease-associated genes in a specific population leads to a personalized gene therapy benefiting those affected patients. (Source: International Ophthalmology)
Source: International Ophthalmology - August 30, 2020 Category: Opthalmology Source Type: research
Autosomal dominant foveal hypoplasia without visible macular abnormalities and PAX6 mutations
ConclusionsHeterozygous mutations in thePAX6 gene can cause FVH1 with nearly normal appearing macula. FVH1 is difficult to diagnose, but detailed observations of the foveal structure and vasculature, and detecting the presence of goniodysgenesis can be helpful in identifying patients with FVH1. (Source: Japanese Journal of Ophthalmology)
Source: Japanese Journal of Ophthalmology - August 27, 2020 Category: Opthalmology Source Type: research
Two novel PDE6C gene mutations in Chinese family with achromatopsia.
CONCLUSIONS: We report novel compound heterozygous PDE6C mutations in causing ACHM and further confirm the clinical diagnosis. Our study extends the genotypic spectrums for PDE6C-ACHM and better illustrates its genotype-phenotype correlations, which would help the ACHM patients with better genetic diagnosis, prognosis, and gene treatment.
PMID: 32787476 [PubMed - as supplied by publisher] (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - August 14, 2020 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research
GSE153978 Multiexon deletion alleles of ATF6 linked to achromatopsia
Contributors : Wei-Chieh J Chiang ; Julia M Grandjean ; Eun-Jin Lee ; Evan T Powers ; R L Wiseman ; Jonathan H LinSeries Type : Expression profiling by high throughput sequencingOrganism : Homo sapiensAchromatopsia (ACHM) is an autosomal recessive disease that results in severe visual loss. Symptoms of ACHM include impaired visual acuity, nystagmus, and photoaversion starting from infancy; furthermore, ACHM is associated with bilateral foveal hypoplasia and absent or severely reduced cone photoreceptor function on electroretinography. Here, we performed genetic sequencing in 3 patients from 2 families with ACHM, identifyi...
Source: GEO: Gene Expression Omnibus - July 8, 2020 Category: Genetics & Stem Cells Tags: Expression profiling by high throughput sequencing Homo sapiens Source Type: research
Safety and Vision Outcomes of Subretinal Gene Therapy in Achromatopsia
This nonrandomized controlled trial assesses safety and vision outcomes of gene therapy for patients with achromatopsia. (Source: JAMA Ophthalmology)
Source: JAMA Ophthalmology - June 1, 2020 Category: Opthalmology Source Type: research
Central serous chorioretinopathy and achromatopsia: a case report
ConclusionThis case highlights a case of CSC and ACHM. (Source: Documenta Ophthalmologica)
Source: Documenta Ophthalmologica - May 17, 2020 Category: Opthalmology Source Type: research
Impact of gene therapy for canine monogenic diseases on the progress of preclinical studies.
Abstract
Rapid progress in knowledge of the organization of the dog genome has facilitated the identification of the mutations responsible for numerous monogenic diseases, which usually present a breed-specific distribution. The majority of these diseases have clinical and molecular counterparts in humans. The affected dogs have thus become valuable models for preclinical studies of gene therapy for problems such as eye diseases, immunodeficiency, lysosomal storage diseases, hemophilia, and muscular dystrophy. Successful gene therapies in dogs have significantly contributed to decisions to run clinical tri...
Source: J Appl Genet - March 17, 2020 Category: Genetics & Stem Cells Authors: Switonski M Tags: J Appl Genet Source Type: research
Nystagmus and optical coherence tomography findings in CNGB3-associated achromatopsia
Publication date: Available online 7 March 2020Source: Journal of American Association for Pediatric Ophthalmology and StrabismusAuthor(s): Nashila Hirji, Maria Theodorou, James W. Bainbridge, Nadia Venturi, Michel Michaelides (Source: Journal of American Association for Pediatric Ophthalmology and Strabismus)
Source: Journal of American Association for Pediatric Ophthalmology and Strabismus - March 7, 2020 Category: Opthalmology Source Type: research
Nystagmus and optical coherence tomography findings in CNGB3-associated achromatopsia
To describe the nystagmus characteristics of subjects with molecularly confirmed CNGB3-associated achromatopsia and report the spectral domain optical coherence tomography (SD-OCT) findings in these individuals. (Source: Journal of AAPOS)
Source: Journal of AAPOS - March 5, 2020 Category: Opthalmology Authors: Nashila Hirji, Maria Theodorou, James W. Bainbridge, Nadia Venturi, Michel Michaelides Tags: Major Article Source Type: research
Interocular symmetry of foveal cone topography in congenital achromatopsia.
CONCLUSIONS: These results demonstrate interocular symmetry of the foveal cone mosaic (both density and packing) in ACHM. As cone topography can differ between eyes of a subject, PCD does not completely describe the foveal cone mosaic in ACHM. Nonetheless, these findings are of value in longitudinal monitoring of patients during treatment trials and further suggest that both eyes of a given subject may have similar therapeutic potential and non-study eye can be used as a control.
PMID: 32108519 [PubMed - as supplied by publisher] (Source: Current Eye Research)
Source: Current Eye Research - February 27, 2020 Category: Opthalmology Authors: Litts KM, Georgiou M, Langlo CS, Patterson EJ, Mastey RR, Kalitzeos A, Linderman RE, Lam BL, Fishman GA, Pennesi ME, Kay CN, Hauswirth WW, Michaelides M, Carroll J Tags: Curr Eye Res Source Type: research
Macular maldevelopment in ATF6-mediated retinal dysfunction.
Conclusions: The findings, particularly a case with severe macular maldevelopment, may expand on the phenotype previously associated with ATF6-mediated achromatopsia. In addition, the comprehensive electrophysiological assessment suggests that preserved S-cone activity can be detected in this particular molecular sub-type of cone dysfunction.
PMID: 31900015 [PubMed - as supplied by publisher] (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - January 6, 2020 Category: Opthalmology Tags: Ophthalmic Genet Source Type: research
Nystagmus with pendular low amplitude, high frequency components (PLAHF) in association with retinal disease.
Conclusions: Patients presenting with PLAHF usually had retinal disorders.
PMID: 31889465 [PubMed - as supplied by publisher] (Source: Strabismus)
Source: Strabismus - January 2, 2020 Category: Research Tags: Strabismus Source Type: research
