Research & Literature

Inherited macular degeneration-associated mutations in CNGB3 increase the ligand sensitivity and spontaneous open probability of cone cyclic nucleotide-gated channels.

Meighan PC, Peng C, Varnum MD

Frontiers in physiology 2015; (6()):177 doi:10.3389/fphys.2015.00177.

Differences in ocular findings in two siblings: one with complete and other with incomplete achromatopsia.

Ueno S, Nakanishi A, Sayo A, et al.

Documenta ophthalmologica. Advances in ophthalmology 2017; (134(2)):141-147 doi:10.1007/s10633-017-9577-y.

CNGB3 mutation spectrum including copy number variations in 552 achromatopsia patients.

Mayer AK, Van Cauwenbergh C, Rother C, et al.

Human mutation 2017; (38(11)):1579-1591 doi:10.1002/humu.23311.

[Oculocutaneous and ocular albinism].

Kubasch AS, Meurer M

Der Hautarzt; Zeitschrift fur Dermatologie, Venerologie, und verwandte Gebiete 2017; (68(11)):867-875 doi:10.1007/s00105-017-4061-x.

ISCEV extended protocol for the dark-adapted red flash ERG.

Thompson DA, Fujinami K, Perlman I, et al.

Documenta ophthalmologica. Advances in ophthalmology 2018; (136(3)):191-197 doi:10.1007/s10633-018-9644-z.

Mutations in the gene PDE6C encoding the catalytic subunit of the cone photoreceptor phosphodiesterase in patients with achromatopsia.

Weisschuh N, Stingl K, Audo I, et al.

Human mutation 2018; (39(10)):1366-1371 doi:10.1002/humu.23606.

Hypopigmented fundus in a young male.

Shaikh NF, Kumar V

Indian journal of ophthalmology 2019; (67(1)):7 doi:10.4103/ijo.IJO_1834_18.

Mutation spectrum and clinical investigation of achromatopsia patients with mutations in the GNAT2 gene.

Felden J, Baumann B, Ali M, et al.

Human mutation 2019; (40(8)):1145-1155 doi:10.1002/humu.23768.

Characterization of Retinal Structure in ATF6-Associated Achromatopsia.

Mastey RR, Georgiou M, Langlo CS, et al.

Investigative ophthalmology & visual science 2019; (60(7)):2631-2640 doi:10.1167/iovs.19-27047.

Intraocular Lens Dislocation into the Anterior Chamber because of Repeated Eye-Poking in a Patient with Leber's Congenital Amaurosis.

Al-Owaid AA, Alarfaj MA, Alarfaj FA, Awad A

Case reports in ophthalmology 2020; (11(1)):48-53 doi:10.1159/000505596.

Safety and Vision Outcomes of Subretinal Gene Therapy Targeting Cone Photoreceptors in Achromatopsia: A Nonrandomized Controlled Trial.

Fischer MD, Michalakis S, Wilhelm B, et al.

JAMA ophthalmology 2020; (138(6)):643-651 doi:10.1001/jamaophthalmol.2020.1032.

Molecular genetic cause of achromatopsia in two patients of Czech origin.

Hlavatá L, Ďuďáková Ľ, Moravíková J, et al.

Ceska a slovenska oftalmologie : casopis Ceske oftalmologicke spolecnosti a Slovenske oftalmologicke spolecnosti 2019; (75(5)):272-276 doi:10.31348/2019/5/5.

Multiple retinal astrocytic hamartomas in siblings with lebers congenital amaurosis: a case series and review of literature.

Paul L, Kumar S, Singh S, Jain T

BMC ophthalmology 2020; (20(1)):377 doi:10.1186/s12886-020-01646-z.

Clinical and Molecular Characterization of Achromatopsia Patients: A Longitudinal Study.

Brunetti-Pierri R, Karali M, Melillo P, et al.

International journal of molecular sciences 2021; (22(4)) doi:10.3390/ijms22041681.

Cortical Visual Mapping following Ocular Gene Augmentation Therapy for Achromatopsia.

McKyton A, Averbukh E, Marks Ohana D, et al.

The Journal of neuroscience : the official journal of the Society for Neuroscience 2021; (41(35)):7363-7371 doi:10.1523/JNEUROSCI.3222-20.2021.

Disease Progression in CNGA3 and CNGB3 Retinopathy; Characteristics of Slovenian Cohort and Proposed OCT Staging Based on Pooled Data from 126 Patients from 7 Studies.

Tekavčič Pompe M, Vrabič N, Volk M, et al.

Current issues in molecular biology 2021; (43(2)):941-957 doi:10.3390/cimb43020067.

Genotypic and Phenotypic Spectrum of Foveal Hypoplasia: A Multicenter Study.

Kuht HJ, Maconachie GDE, Han J, et al.

Ophthalmology 2022; (129(6)):708-718 doi:10.1016/j.ophtha.2022.02.010.

Comprehensive variant spectrum of the CNGA3 gene in patients affected by achromatopsia.

Solaki M, Baumann B, Reuter P, et al.

Human mutation 2022; (43(7)):832-858 doi:10.1002/humu.24371.

A new mutation in the PDE6C gene in achromatopsia.

Jiménez-Siles L, Zamorano-Martín F, García-Lorente M, et al.

European journal of ophthalmology 2023; (33(4)):NP133-NP137 doi:10.1177/11206721221093023.

Longitudinal Evaluation of Changes in Retinal Architecture Using Optical Coherence Tomography in Achromatopsia.

Triantafylla M, Papageorgiou E, Thomas MG, et al.

Investigative ophthalmology & visual science 2022; (63(9)):6 doi:10.1167/iovs.63.9.6.

Genetic and Clinical Characterization of Danish Achromatopsia Patients.

Andersen MKG, Bertelsen M, Grønskov K, et al.

Genes 2023; (14(3)) doi:10.3390/genes14030690.

The VA-CAL Test Quantifies Improvement of Visual Acuity in Achromatopsia by Means of Short-Wave Cutoff Filter Glasses in Daily Living Conditions.

Hilmers J, Bach M, Stingl K, et al.

Translational vision science & technology 2023; (12(6)):20 doi:10.1167/tvst.12.6.20.

Molecular and Clinical Characterization of CNGA3 and CNGB3 Genes in Brazilian Patients Affected with Achromatopsia.

Amaral RAS, Motta FL, Zin OA, et al.

Genes 2023; (14(6)) doi:10.3390/genes14061296.

Morphological and Functional Aspects and Quality of Life in Patients with Achromatopsia.

Chan C, Seitz B, Käsmann-Kellner B

Journal of personalized medicine 2023; (13(7)) doi:10.3390/jpm13071106.

An early onset cone dystrophy due to CEP290 mutation: a case report.

Binder A, Kohl S, Grasshoff U, et al.

Documenta ophthalmologica. Advances in ophthalmology 2023; (147(3)):203-209 doi:10.1007/s10633-023-09940-z.

Functional evaluation allows ACMG/AMP-based re-classification of CNGA3 variants associated with achromatopsia.

Solaki M, Wissinger B, Kohl S, Reuter P

Genetics in medicine : official journal of the American College of Medical Genetics 2023; (25(12)):100979 doi:10.1016/j.gim.2023.100979.

Analysis of Suspected Achromatopsia by Multimodal Diagnostic Testing.

Kugler SA, Valmaggia C, Sturm V, et al.

Klinische Monatsblatter fur Augenheilkunde 2023; (240(10)):1158-1173 doi:10.1055/a-2176-4233.

The endoplasmic reticulum: Homeostasis and crosstalk in retinal health and disease.

Zhang SX, Wang JJ, Starr CR, et al.

Progress in retinal and eye research 2024; (98()):101231 doi:10.1016/j.preteyeres.2023.101231.

Phenotype and genotype of 15 Saudi patients with achromatopsia: A case series.

Danish E, Alhashem A, Aljehani R, et al.

Saudi journal of ophthalmology : official journal of the Saudi Ophthalmological Society 2023; (37(4)):301-306 doi:10.4103/sjopt.sjopt_108_23.

Longitudinal Assessment of OCT-Based Measures of Foveal Cone Structure in Achromatopsia.

Grissim G, Walesa A, Follett HM, et al.

Investigative ophthalmology & visual science 2024; (65(4)):16 doi:10.1167/iovs.65.4.16.

Clinical, Ophthalmic, and Genetic Characterization of RPGRIP1-Associated Leber Congenital Amaurosis/Early-Onset Severe Retinal Dystrophy.

Daich Varela M, Jeste M, de Guimaraes TAC, et al.

American journal of ophthalmology 2024; (266()):255-263 doi:10.1016/j.ajo.2024.05.007.

Molecular Mechanisms Governing Sight Loss in Inherited Cone Disorders.

Brotherton C, Megaw R

Genes 2024; (15(6)) doi:10.3390/genes15060727.

Gene Therapy for Achromatopsia.

Baxter MF, Borchert GA

International journal of molecular sciences 2024; (25(17)) doi:10.3390/ijms25179739.

Intact high-level visual functions in congenital rod-monochromacy.

Shabat S, McKyton A, Elul D, et al.

Frontiers in neuroscience 2024; (18()):1418916 doi:10.3389/fnins.2024.1418916.

Monogenic Retinal Diseases Associated With Genes Encoding Phototransduction Proteins: A Review.

Wong WM, Mahroo OA

Clinical & experimental ophthalmology 2025; (53(3)):260-280 doi:10.1111/ceo.14511.

Clinical and genetic features of CNGA3 achromatopsia in preschool children: novel insights into retinal architecture and therapeutic window for clinical trials.

Lai Y, Hou A, Zhang L, et al.

Frontiers in medicine 2025; (12()):1560556 doi:10.3389/fmed.2025.1560556.

Structure-function analysis of CNGA3-associated achromatopsia patient variants complements clinical genomics in pathogenicity determination.

Rasmussen DK, Sun YJ, Franco JA, et al.

Orphanet journal of rare diseases 2025; (20(1)):261 doi:10.1186/s13023-025-03792-3.

Pathogenic Deep Intronic Variant in CNGB3 Identified From Whole-Genome Sequencing in an Unsolved Case of Patient Affected With Achromatopsia.

Gregory MR, Liaqat K, Treat K, et al.

Case reports in genetics 2025; (2025()):3466358 doi:10.1155/crig/3466358.

Expanding the genetic spectrum of achromatopsia: novel CNGA3 and CNGB3 variants.

Manav Yigit Z, Sandal Filikci N, Erkan E, et al.

International ophthalmology 2025; (45(1)):313 doi:10.1007/s10792-025-03650-y.

One down but many more to go: the state of gene therapy for inherited retinal disease.

Tan TE, Sun CZY, Poh SSJ, et al.

Regenerative medicine 2025; (20(10)):509-526 doi:10.1080/17460751.2025.2571360.