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Phenotyping and genotyping inherited retinal diseases: Molecular genetics, clinical and imaging features, and therapeutics of macular dystrophies, cone and cone-rod dystrophies, rod-cone dystrophies, Leber congenital amaurosis, and cone dysfunction syndromes.
Georgiou M, Robson AG, Fujinami K, de Guimarães TAC, Fujinami-Yokokawa Y, Daich Varela M, Pontikos N, Kalitzeos A, Mahroo OA, Webster AR, Michaelides M. Georgiou M, et al. Prog Retin Eye Res. 2024 May;100:101244. doi: 10.1016/j.preteyeres.2024.101244. Epub 2024 Jan 24. Prog Retin Eye Res. 2024. PMID: 38278208 Review.
Herein we present in a comprehensive and concise manner: (i) macular dystrophies (Stargardt disease (ABCA4), X-linked retinoschisis (RS1), Best disease (BEST1), PRPH2-associated pattern dystrophy, Sorsby fundus dystrophy (TIMP3), and autosomal dominant drusen (EFEMP1)), (ii) cone …
Herein we present in a comprehensive and concise manner: (i) macular dystrophies (Stargardt disease (ABCA4), X-linked retinoschisis (RS1), B …
A nationwide genetic analysis of inherited retinal diseases in Israel as assessed by the Israeli inherited retinal disease consortium (IIRDC).
Sharon D, Ben-Yosef T, Goldenberg-Cohen N, Pras E, Gradstein L, Soudry S, Mezer E, Zur D, Abbasi AH, Zeitz C, Cremers FPM, Khan MI, Levy J, Rotenstreich Y, Birk OS, Ehrenberg M, Leibu R, Newman H, Shomron N, Banin E, Perlman I. Sharon D, et al. Hum Mutat. 2020 Jan;41(1):140-149. doi: 10.1002/humu.23903. Epub 2019 Sep 15. Hum Mutat. 2020. PMID: 31456290
The most frequently mutated genes were ABCA4, USH2A, FAM161A, CNGA3, and EYS. The results of this study have important implications for molecular diagnosis, genetic screening, and counseling, as well as for the development of new therapeutic strategies for retinal diseases …
The most frequently mutated genes were ABCA4, USH2A, FAM161A, CNGA3, and EYS. The results of this study have important implications f …
Gene Therapy for Achromatopsia.
Baxter MF, Borchert GA. Baxter MF, et al. Int J Mol Sci. 2024 Sep 9;25(17):9739. doi: 10.3390/ijms25179739. Int J Mol Sci. 2024. PMID: 39273686 Free PMC article. Review.
It is an autosomal recessive disorder with a heterogeneous genetic background with variants reported in CNGA3, CNGB3, GNAT2, PDE6C, PDE6H, and ATF6. Up to 90% of achromatopsia patients harbour mutations in CNGA3 or CNB3, which encode for the alpha and beta subunits …
It is an autosomal recessive disorder with a heterogeneous genetic background with variants reported in CNGA3, CNGB3, GNAT2, PDE6C, P …
Achromatopsia: Genetics and Gene Therapy.
Michalakis S, Gerhardt M, Rudolph G, Priglinger S, Priglinger C. Michalakis S, et al. Mol Diagn Ther. 2022 Jan;26(1):51-59. doi: 10.1007/s40291-021-00565-z. Epub 2021 Dec 3. Mol Diagn Ther. 2022. PMID: 34860352 Free PMC article. Review.
Up to 90% of patients with ACHM carry mutations in CNGA3 or CNGB3, which are the genes encoding the alpha and beta subunits of the cone cyclic nucleotide-gated (CNG) channel, respectively. ...These encouraging preclinical data helped advance multiple gene therapy programs …
Up to 90% of patients with ACHM carry mutations in CNGA3 or CNGB3, which are the genes encoding the alpha and beta subunits of the co …
Expanding the genetic spectrum of achromatopsia: novel CNGA3 and CNGB3 variants.
Manav Yigit Z, Sandal Filikci N, Erkan E, Sahin Vural G, Unal MA, Gumus E. Manav Yigit Z, et al. Int Ophthalmol. 2025 Jul 23;45(1):313. doi: 10.1007/s10792-025-03650-y. Int Ophthalmol. 2025. PMID: 40699246
RESULTS: We identified a novel missense variant in CNGA3 (c.1710C > A p.(Ser570Arg)) and a novel frameshift variant in CNGB3 (c.739_754del p....CONCLUSION: Molecular dynamics simulations suggest that the CNGA3 c.1710C > A p.(Ser570Arg) variant may act as a gai …
RESULTS: We identified a novel missense variant in CNGA3 (c.1710C > A p.(Ser570Arg)) and a novel frameshift variant in CNGB3 (c.73 …
Comprehensive variant spectrum of the CNGA3 gene in patients affected by achromatopsia.
Solaki M, Baumann B, Reuter P, Andreasson S, Audo I, Ayuso C, Balousha G, Benedicenti F, Birch D, Bitoun P, Blain D, Bocquet B, Branham K, Català-Mora J, De Baere E, Dollfus H, Falana M, Giorda R, Golovleva I, Gottlob I, Heckenlively JR, Jacobson SG, Jones K, Jägle H, Janecke AR, Kellner U, Liskova P, Lorenz B, Martorell-Sampol L, Messias A, Meunier I, Belga Ottoni Porto F, Papageorgiou E, Plomp AS, de Ravel TJL, Reiff CM, Renner AB, Rosenberg T, Rudolph G, Salati R, Sener EC, Sieving PA, Stanzial F, Traboulsi EI, Tsang SH, Varsanyi B, Weleber RG, Zobor D, Stingl K, Wissinger B, Kohl S. Solaki M, et al. Hum Mutat. 2022 Jul;43(7):832-858. doi: 10.1002/humu.24371. Epub 2022 Apr 14. Hum Mutat. 2022. PMID: 35332618 Review.
CNGA3 encodes the CNGA3 subunit of the cyclic nucleotide-gated ion channel in cone photoreceptors and is one of the major disease-associated genes for ACHM. Herein, we provide a comprehensive overview of the CNGA3 variant spectrum in a cohort of 1060 genetica …
CNGA3 encodes the CNGA3 subunit of the cyclic nucleotide-gated ion channel in cone photoreceptors and is one of the major dise …
Gene therapy for achromatopsia.
Michalakis S, Schön C, Becirovic E, Biel M. Michalakis S, et al. J Gene Med. 2017 Mar;19(3). doi: 10.1002/jgm.2944. J Gene Med. 2017. PMID: 28095637 Review.
Up to 80% of the patients carry mutations in the genes CNGA3 and CNGB3 encoding the two subunits of the cone cyclic nucleotide-gated channel. ...
Up to 80% of the patients carry mutations in the genes CNGA3 and CNGB3 encoding the two subunits of the cone cyclic nucleotide-gated …
Diseases associated with mutations in CNGA3: Genotype-phenotype correlation and diagnostic guideline.
Sun W, Zhang Q. Sun W, et al. Prog Mol Biol Transl Sci. 2019;161:1-27. doi: 10.1016/bs.pmbts.2018.10.002. Epub 2018 Nov 23. Prog Mol Biol Transl Sci. 2019. PMID: 30711023 Review.
Along with the molecular and functional characterization of CNGA3, knowledge about diseases associated with CNGA3 mutations has made great progress. ...Recognizing the importance of CNGA3 in inherited retinal diseases may enhance related research in searching …
Along with the molecular and functional characterization of CNGA3, knowledge about diseases associated with CNGA3 mutations ha …
Molecular and Clinical Characterization of CNGA3 and CNGB3 Genes in Brazilian Patients Affected with Achromatopsia.
Amaral RAS, Motta FL, Zin OA, da Palma MM, Rodrigues GD, Sallum JMF. Amaral RAS, et al. Genes (Basel). 2023 Jun 20;14(6):1296. doi: 10.3390/genes14061296. Genes (Basel). 2023. PMID: 37372476 Free PMC article.
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 case …
Pathogenic variants in six genes encoding proteins composing the cone phototransduction cascade (CNGA3, CNGB3, PDE6C, PDE6H, GNAT2) a …
Refractive Error in Inherited Retinal Disease.
Yassin SH, Wagner NE, Khuu T, Schmidt R, Igelman AD, Marra M, Schwartz H, Walker E, Nagiel A, Yang P, Everett LA, Pennesi ME, Borooah S. Yassin SH, et al. Am J Ophthalmol. 2025 Jan;269:381-392. doi: 10.1016/j.ajo.2024.09.011. Epub 2024 Sep 18. Am J Ophthalmol. 2025. PMID: 39303928

For genes associated with myopia, NYX (n = 14 [1%]) was associated with the highest spherical equivalent RE of myopia (mean -9.26 diopters [D] [95% CI -11.867 to -6.651], P < .001) followed by IMPG2 (n = 16 [1.1%]) (mean -4.062 D [95% CI -6.254 to -1.871], P = .002), then RPGR

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For genes associated with myopia, NYX (n = 14 [1%]) was associated with the highest spherical equivalent RE of myopia (mean -9.26 diopters [ …
64 results