Achromatopsia (ACHM) Research This is an RSS file. You can use it to subscribe to this data in your favourite RSS reader or to display this data on your own website or blog.

Quantitative and qualitative characterization of retinal dystrophies in canine models of inherited retinal diseases using spectral domain optical coherence tomography (SD-OCT)
Exp Eye Res. 2022 May 16:109106. doi: 10.1016/j.exer.2022.109106. Online ahead of print.ABSTRACTThe purpose of this study was to establish spectral domain optical coherence tomography (SD-OCT) assessment data in well-established canine models of inherited retinal dystrophies: PDE6B-rod-cone dysplasia 1 (RCD1: early onset retinitis pigmentosa), PRCD-progressive rod-cone degeneration (PRCD: late onset retinitis pigmentosa), CNGB3-achromatopsia, and RPE65-Leber congenital amaurosis (LCA). High resolution SD-OCT images of the retina were acquired from both eyes in 5 planes: temporal; superotemporal; superior; nasal; and inferi...
Source: Experimental Eye Research - May 19, 2022 Category: Opthalmology Authors: Shin Ae Park Jamie Rhodes Simone Iwabe Gui-Shuang Ying Wei Pan Jiayan Huang Andr ás M Komáromy Source Type: research

Normal and abnormal foveal development
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 foveal hypoplasia (FH)....
Source: British Journal of Ophthalmology - April 21, 2022 Category: Opthalmology Authors: Thomas, M. G., Papageorgiou, E., Kuht, H. J., Gottlob, I. Tags: Review Source Type: research

A new mutation in the < em > PDE6C < /em > gene in achromatopsia
CONCLUSION: Achromatopsia is an autosomal-recessive genetic disease characterized by decreased visual acuity, color blindness, photophobia, and nystagmus. Due to the variability of genetic mutations in achromatopsia, genetic characterization is mandatory in order to improve the efficiency in molecular diagnosis. This data may be useful in future therapeutic strategies. We present a previously undescribed mutation in the PDE6C gene in a patient with incomplete achromatopsia.PMID:35422133 | DOI:10.1177/11206721221093023 (Source: European Journal of Ophthalmology)
Source: European Journal of Ophthalmology - April 15, 2022 Category: Opthalmology Authors: Laura Jim énez-Siles Francisco Zamorano-Mart ín Mar ía García-Lorente Facundo Urbinati Rahul Rachwani Anil Mar ía Fernández-Figares Manuela Espa ña-Contreras Source Type: research

Genes, Vol. 13, Pages 617: Delineating the Molecular and Phenotypic Spectrum of the CNGA3-Related Cone Photoreceptor Disorder in Pakistani Families
Riazuddin Ahmed Cone photoreceptor dysfunction represents a clinically heterogenous group of disorders characterized by nystagmus, photophobia, reduced central or color vision, and macular dystrophy. Here, we described the molecular findings and clinical manifestations of achromatopsia, a partial or total absence of color vision, co-segregating with three known missense variants of CNGA3 in three large consanguineous Pakistani families. Fundus examination and optical coherence tomography (OCT) imaging revealed myopia, thin retina, retinal pigment epithelial cells loss at fovea/perifovea, and macular atrophy. Com...
Source: Genes - March 29, 2022 Category: Genetics & Stem Cells Authors: Yousaf Tariq Sajid Sheikh Kausar Waryah Shaikh Waryah Sethna Riazuddin Ahmed Tags: Brief Report Source Type: research

Achromatopsia: Genetics and Gene Therapy
AbstractAchromatopsia (ACHM), also known as rod monochromatism or total color blindness, is an autosomal recessively inherited retinal disorder that affects the cones of the retina, the type of photoreceptors responsible for high-acuity daylight vision. ACHM is caused by pathogenic variants in one of six cone photoreceptor-expressed genes. These mutations result in a functional loss and a slow progressive degeneration of cone photoreceptors. The loss of cone photoreceptor function manifests at birth or early in childhood and results in decreased visual acuity, lack of color discrimination, abnormal intolerance to light (ph...
Source: Molecular Diagnosis and Therapy - December 3, 2021 Category: Molecular Biology Source Type: research

Outer retinal transduction by AAV2-7m8 following intravitreal injection in a sheep model of CNGA3 achromatopsia
Gene Therapy, Published online: 02 December 2021; doi:10.1038/s41434-021-00306-1Outer retinal transduction by AAV2-7m8 following intravitreal injection in a sheep model of CNGA3 achromatopsia (Source: Gene Therapy)
Source: Gene Therapy - December 2, 2021 Category: Genetics & Stem Cells Authors: M. Ross A. Obolensky E. Averbukh M. Desrosiers R. Ezra-Elia H. Honig E. Yamin A. Rosov H. Dvir E. Gootwine E. Banin D. Dalkara R. Ofri Source Type: research

A deep intronic substitution in < em > CNGB3 < /em > is one of the major causes of achromatopsia among Jewish patients
CONCLUSIONS: CNGB3 is the most common cause of ACHM in patients of European descent; this is mainly due to a panethnic founder mutation, c.1148del. Here, we report on an intronic CNGB3 variant that is more frequent than the c.1148del mutation in our cohort of Jewish patients. Among our ACHM cohort, 63.7% of patients had biallelic CNGA3 mutations and 26.4% had biallelic CNGB3 mutations. The phenotype of patients harboring the intronic mutation falls largely within the spectrum commonly seen in ACHM. Since gene therapy for CNGB3 is currently under investigation, these patients might benefit from this promising therapy. Given...
Source: Molecular Vision - October 27, 2021 Category: Molecular Biology Authors: Hamzah Aweidah Manar Salameh Claudia Yahalom Anat Blumenfeld Michal Macarov Nicole Weisschuh Susanne Kohl Eyal Banin Dror Sharon Source Type: research

Gene Therapy Updates in Achromatopsia
No abstract available (Source: International Ophthalmology Clinics)
Source: International Ophthalmology Clinics - October 1, 2021 Category: Opthalmology Tags: Gene Therapy for Inherited Retinal Disease: Original Articles Source Type: research