Analysis of suspected Achromatopsia by multimodal Diagnostics
CONCLUSION: Combining multimodal ophthalmological diagnostics and molecular genetics when evaluating patients with ACHM helps in characterizing the disease and associated modifiers, and is therefore strongly recommended for such patients. Zusammenfassung Hintergrund: Achromatopsie (ACHM) als eine erbliche Zapfenerkrankung kann sich als stationäre oder als progressive Erkrankung manifestieren. Die genaue klinische und genetische Diagnostik kann eine individuelle Prognose, akkurate genetische Beratung und eine optimale Wahl von Sehhilfen erlauben. Das primäre Ziel der Studie war, das Spektrum der klinischen und genetischen...
Source: Klinische Monatsblatter fur Augenheilkunde - September 15, 2023 Category: Opthalmology Authors: Sylvia A Kugler Christophe Valmaggia Veit Sturm Daniel F Schorderet Margarita Todorova Source Type: research
Vision restoration: Little red booster
Curr Biol. 2023 Sep 11;33(17):R900-R901. doi: 10.1016/j.cub.2023.07.065.ABSTRACTA new study describes a set of behavioural experiments that assess whether gene therapy can restore colour vision in patients with congenital achromatopsia.PMID:37699345 | DOI:10.1016/j.cub.2023.07.065 (Source: Current Biology)
Source: Current Biology - September 12, 2023 Category: Biology Authors: Alex R Wade Source Type: research
Vision restoration: Little red booster
Curr Biol. 2023 Sep 11;33(17):R900-R901. doi: 10.1016/j.cub.2023.07.065.ABSTRACTA new study describes a set of behavioural experiments that assess whether gene therapy can restore colour vision in patients with congenital achromatopsia.PMID:37699345 | DOI:10.1016/j.cub.2023.07.065 (Source: Current Biology)
Source: Current Biology - September 12, 2023 Category: Biology Authors: Alex R Wade Source Type: research
This Month in AJP
Activating transcription factor 6 (ATF6) is critical for endoplasmic reticulum (ER) stress; however, the effect of disease-associated ATF6 variants on retinal cell types is unknown. Using bulk RNA-seq transcriptomes from retinal organoids generated from patients with achromatopsia (ACHM) carrying homozygous loss-of-function ATF6 variants, Lee, Diaz-Aguilar, and Min et al (Am J Pathol 2023, XX –XX) studied this effect. Mitochondrial respiratory complex gene expression was dysregulated and mitochondrial morphology disrupted in the ACHM retinal organoids. (Source: American Journal of Pathology)
Source: American Journal of Pathology - September 11, 2023 Category: Pathology Tags: This Month in AJP Source Type: research
An early onset cone dystrophy due to CEP290 mutation: a case report
ConclusionsCEP290 mutation causes a wide variety of clinical phenotypes. The presented case shows a phenotype resembling achromatopsia or early onset slowly progressing cone dystrophy. (Source: Documenta Ophthalmologica)
Source: Documenta Ophthalmologica - August 29, 2023 Category: Opthalmology Source Type: research
Inhibition of Ryanodine Receptor 1 Reduces Endoplasmic Reticulum (ER) Stress and Promotes ER Protein Degradation in Cyclic Nucleotide-Gated Channel Deficiency
Adv Exp Med Biol. 2023;1415:353-358. doi: 10.1007/978-3-031-27681-1_51.ABSTRACTThe cone photoreceptor cyclic nucleotide-gated (CNG) channel plays a pivotal role in cone phototransduction. Mutations in genes encoding the channel subunits CNGA3 and CNGB3 account for about 80% of all cases of achromatopsia and are associated with progressive cone dystrophies. CNG channel deficiency leads to cellular/endoplasmic reticulum (ER) calcium dysregulation and ER stress-associated cone apoptosis. This work investigated the role of the ER calcium channel ryanodine receptor 1 (Ryr1) in ER stress and cone degeneration in CNG channel defi...
Source: Advances in Experimental Medicine and Biology - July 13, 2023 Category: Research Authors: Fan Yang Hongwei Ma Rekha Garg Alfred Lewin Xi-Qin Ding Source Type: research
AAV Serotypes and Their Suitability for Retinal Gene Therapy
Adv Exp Med Biol. 2023;1415:131-134. doi: 10.1007/978-3-031-27681-1_20.ABSTRACTThroughout the last 25 years, exceptional progress in retinal gene therapy was achieved. The major breakthrough was realized in 2017 when the FDA approved the adeno-associated virus (AAV)-based gene therapy for treatment of the monogenetic disorder Leber congenital amaurosis type 2 (LCA2). Since then, many therapies for inherited retinal diseases (IRD) reached phase I/II clinical trials, targeting diseases like achromatopsia, choroideremia, retinitis pigmentosa, Stargardt disease, and many more (reviewed in (Trapani and Auricchio, Trends Mol Med...
Source: Molecular Medicine - July 13, 2023 Category: Molecular Biology Authors: Lynn J A Ebner Christian Grimm Source Type: research
AAV Serotypes and Their Suitability for Retinal Gene Therapy
Adv Exp Med Biol. 2023;1415:131-134. doi: 10.1007/978-3-031-27681-1_20.ABSTRACTThroughout the last 25 years, exceptional progress in retinal gene therapy was achieved. The major breakthrough was realized in 2017 when the FDA approved the adeno-associated virus (AAV)-based gene therapy for treatment of the monogenetic disorder Leber congenital amaurosis type 2 (LCA2). Since then, many therapies for inherited retinal diseases (IRD) reached phase I/II clinical trials, targeting diseases like achromatopsia, choroideremia, retinitis pigmentosa, Stargardt disease, and many more (reviewed in (Trapani and Auricchio, Trends Mol Med...
Source: Mol Biol Cell - July 13, 2023 Category: Molecular Biology Authors: Lynn J A Ebner Christian Grimm Source Type: research
Seeing color following gene augmentation therapy in achromatopsia
Curr Biol. 2023 Jul 3:S0960-9822(23)00826-6. doi: 10.1016/j.cub.2023.06.041. Online ahead of print.ABSTRACTHow will people who spent their visual lives with only rods respond to cone function restoration? Will they be able suddenly see the colors of the rainbow? CNGA3-achromatopsia is a congenital hereditary disease in which cone dysfunction leads patients to have rod photoreceptor-driven vision only in daylight,1,2,3,4 seeing the world in blurry shades of gray.5,6 We studied color perception in four CNGA3-achromatopsia patients following monocular retinal gene augmentation therapy.7,8,9 Following treatment, although some ...
Source: Current Biology - July 11, 2023 Category: Biology Authors: Ayelet McKyton Devora Marks Ohana Einav Nahmany Eyal Banin Netta Levin Source Type: research
Seeing color following gene augmentation therapy in achromatopsia
Curr Biol. 2023 Jul 3:S0960-9822(23)00826-6. doi: 10.1016/j.cub.2023.06.041. Online ahead of print.ABSTRACTHow will people who spent their visual lives with only rods respond to cone function restoration? Will they be able suddenly see the colors of the rainbow? CNGA3-achromatopsia is a congenital hereditary disease in which cone dysfunction leads patients to have rod photoreceptor-driven vision only in daylight,1,2,3,4 seeing the world in blurry shades of gray.5,6 We studied color perception in four CNGA3-achromatopsia patients following monocular retinal gene augmentation therapy.7,8,9 Following treatment, although some ...
Source: Current Biology - July 11, 2023 Category: Biology Authors: Ayelet McKyton Devora Marks Ohana Einav Nahmany Eyal Banin Netta Levin Source Type: research
Genes, Vol. 14, Pages 1296: Molecular and Clinical Characterization of CNGA3 and CNGB3 Genes in Brazilian Patients Affected with Achromatopsia
. F. Sallum
Achromatopsia (ACHM) is a congenital cone photoreceptor disorder characterized by reduced visual acuity, nystagmus, photophobia, and very poor or absent color vision. Pathogenic variants in six genes encoding proteins composing the cone phototransduction cascade (CNGA3, CNGB3, PDE6C, PDE6H, GNAT2) and of the unfolded protein response (ATF6) have been related to ACHM cases, while CNGA3 and CNGB3 alone are responsible for most cases. Herein, we provide a clinical and molecular overview of 42 Brazilian patients from 38 families affected with ACHM related to biallelic pathogenic variants in the CNGA3 and CNGB3 ...
Source: Genes - June 20, 2023 Category: Genetics & Stem Cells Authors: Rebeca A. S. Amaral Fabiana L. Motta Olivia A. Zin Mariana M. da Palma Gabriela D. Rodrigues Juliana M. F. Sallum Tags: Brief Report Source Type: research
