{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,12]],"date-time":"2026-10-12T23:04:50Z","timestamp":1791846290595,"version":"4.3.4"},"reference-count":51,"publisher":"MDPI AG","issue":"3","license":[{"start":{"date-parts":[[2023,3,10]],"date-time":"2023-03-10T00:00:00Z","timestamp":1678406400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Fight for Sight Denmark, the Danish Eye Research Foundation"},{"name":"Synoptikfonden and the Dag Lenards Foundation"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>Achromatopsia is a rare congenital condition with cone photoreceptor dysfunction causing color blindness, reduced vision, nystagmus and photophobia. New treatments are being developed, but the current evidence is still conflicting regarding possible progression over time, and there is no clear genotype-phenotype correlation. This natural history study aimed to further explore the course of disease and potential clinical differences between various genotypes. The retrospective design allowed for the study of a large cohort with a long follow-up. Patients were identified from the Danish national registries. If not already available, genetic analysis was offered to the patient. Clinical data from 1945\u20132022 were retrieved from medical records and included best-corrected visual acuity (BCVA), color vision, refractive error, nystagmus, visual fields and fundoscopic findings. We identified variants believed to be disease causing in five of the known achromatopsia genes: CNGA3; CNGB3; GNAT2; PDE6C and PDE6H; and novel variants were identified in CNGB3 and PDE6C. Progressive deterioration of BCVA only attributable to achromatopsia was found in three of 58 patients. Progressive phenotype was seen with variants in CNGB3 and PDE6C. The results indicate that myopia could be more frequently occurring with variants in GNAT2, PDE6C and PDE6H and support the evidence that achromatopsia is a predominantly stationary condition with respect to BCVA. Although a clear genotype-phenotype correlation can still not be concluded, there may be differences in phenotypical characteristics with variants in different genes.<\/jats:p>","DOI":"10.3390\/genes14030690","type":"journal-article","created":{"date-parts":[[2023,3,13]],"date-time":"2023-03-13T06:09:56Z","timestamp":1678687796000},"page":"690","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":18,"title":["Genetic and Clinical Characterization of Danish Achromatopsia Patients"],"prefix":"10.3390","volume":"14","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-6585-5726","authenticated-orcid":false,"given":"Mette Kj\u00f8b\u00e6k Gundestrup","family":"Andersen","sequence":"first","affiliation":[{"name":"Department of Ophthalmology, Copenhagen University Hospital\u2014Rigshospitalet, 2600 Glostrup, Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mette","family":"Bertelsen","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics, Copenhagen University Hospital\u2014Rigshospitalet, 2100 Copenhagen, Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Karen","family":"Gr\u00f8nskov","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics, Copenhagen University Hospital\u2014Rigshospitalet, 2100 Copenhagen, Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6438-6331","authenticated-orcid":false,"given":"Susanne","family":"Kohl","sequence":"additional","affiliation":[{"name":"Institute for Ophthalmic Research, Center for Ophthalmology, University of T\u00fcbingen, 72076 T\u00fcbingen, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9375-1510","authenticated-orcid":false,"given":"Line","family":"Kessel","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, Copenhagen University Hospital\u2014Rigshospitalet, 2600 Glostrup, Denmark"},{"name":"Department of Clinical Medicine, University of Copenhagen, 2200 Copenhagen, Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2023,3,10]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"1567","DOI":"10.1136\/bjophthalmol-2021-319067","article-title":"Three-Year Results of Phase I Retinal Gene Therapy Trial for CNGA3-Mutated Achromatopsia: Results of a Non Randomised Controlled Trial","volume":"106","author":"Reichel","year":"2022","journal-title":"Br. 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