Daich Varela, Malena;
Moya, Rene;
Azevedo Souza Amaral, Rebeca;
Schlottmann, Patricio G;
Álvarez Mendiara, Alejandro;
Francone, Aníbal;
Guazi Resende, Rosane;
... Ferraz Sallum, Juliana Maria; + view all
(2023)
Clinical and genetic characterization of RDH12-retinal dystrophy in a South American cohort.
Ophthalmology Retina
10.1016/j.oret.2023.09.007.
(In press).
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Abstract
Purpose: To characterize the largest cohort of individuals with RDH12-retinal dystrophy to date, and the first one from South America. // Design: Retrospective multicenter international study. // Subjects: 78 patients (66 families) with an inherited retinal dystrophy and biallelic variants in RDH12. // Methods: Review of clinical notes, ophthalmic images, and molecular diagnosis. // Main outcome measures: Visual function, retinal imaging and characteristics were evaluated and correlated. // Results: Thirty-seven individuals self-identified as Latino (51%) and 34 as White (47%). Mean age at the baseline visit was 19.8 ± 13 years old (6 months – 46 years old, median 18.5); 41 (53%) were children. Thirty-nine patients (50%) had subsequent visits, with mean follow-up of 6.8 + 7.3 years (0 – 29). Sixty-nine individuals (88%) had Leber congenital amaurosis/early onset severe retinal dystrophy (LCA/EOSRD). Macular and mid-peripheral atrophy was seen in all patients from 3 years of age. A novel retinal finding was a hyperautofluorescent ring in 2 young children with LCA. Eight variants (21%) were previously unreported and the most frequent variant was c.295C>A, p.Leu99Ile, present in 52 alleles of 32 probands. Individuals with LCA homozygous for p.Leu99Ile (31%) had a later age of onset, slower rate of BCVA decrease, the largest percentage of patients with mild visual impairment, and were predicted to reach legal blindness at an older age than the rest of the cohort. // Conclusions: By describing the largest molecularly confirmed cohort to date, improved understanding of disease progression was possible. Our detailed characterization aims to support research and the development of novel therapies that may have the potential to reduce or prevent vision loss in individuals with RDH12-associated retinal dystrophy.
| Type: | Article |
|---|---|
| Title: | Clinical and genetic characterization of RDH12-retinal dystrophy in a South American cohort |
| Location: | United States |
| Open access status: | An open access version is available from UCL Discovery |
| DOI: | 10.1016/j.oret.2023.09.007 |
| Publisher version: | https://doi.org/10.1016/j.oret.2023.09.007 |
| Language: | English |
| Additional information: | Copyright 2023 by the American Academy of Ophthalmology. This is an open access article under the CC BY license (http://creativecommons.org/licenses/by/4.0/). |
| UCL classification: | UCL UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > Institute of Ophthalmology |
| URI: | https://discovery.ucl.ac.uk/id/eprint/10177261 |
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