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Nationwide genetic analysis of more than 600 families with inherited eye diseases in Argentina.


ABSTRACT: This study corresponds to the first large-scale genetic analysis of inherited eye diseases (IED) in Argentina and describes the comprehensive genetic profile of a large cohort of patients. Medical records of 22 ophthalmology and genetics services throughout 13 Argentinian provinces were analyzed retrospectively. Patients with a clinical diagnosis of an ophthalmic genetic disease and a history of genetic testing were included. Medical, ophthalmological and family history was collected. A total of 773 patients from 637 families were included, with 98% having inherited retinal disease. The most common phenotype was retinitis pigmentosa (RP, 62%). Causative variants were detected in 379 (59%) patients. USH2A, RPGR, and ABCA4 were the most common disease-associated genes. USH2A was the most frequent gene associated with RP, RDH12 early-onset severe retinal dystrophy, ABCA4 Stargardt disease, PROM1 cone-rod dystrophy, and BEST1 macular dystrophy. The most frequent variants were RPGR c.1345 C > T, p.(Arg449*) and USH2A c.15089 C > A, p.(Ser5030*). The study revealed 156/448 (35%) previously unreported pathogenic/likely pathogenic variants and 8 possible founder mutations. We present the genetic landscape of IED in Argentina and the largest cohort in South America. This data will serve as a reference for future genetic studies, aid diagnosis, inform counseling, and assist in addressing the largely unmet need for clinical trials to be conducted in the region.

SUBMITTER: Schlottmann PG 

PROVIDER: S-EPMC10202926 | biostudies-literature | 2023 May

REPOSITORIES: biostudies-literature

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Nationwide genetic analysis of more than 600 families with inherited eye diseases in Argentina.

Schlottmann Patricio G PG   Luna José D JD   Labat Natalia N   Yadarola María Belén MB   Bainttein Silvina S   Esposito Evangelina E   Ibañez Agustina A   Barbaro Evangelina Ivón EI   Álvarez Mendiara Alejandro A   Picotti Carolina P CP   Chirino Misisian Andrea A   Andreussi Luciana L   Gras Julieta J   Capalbo Luciana L   Visotto Mauro M   Dipierri José E JE   Alcoba Emilio E   Fernández Gabrielli Laura L   Ávila Silvia S   Aucar María Emilia ME   Martin Daniel M DM   Ormaechea Gerardo Juan GJ   Inga M Eugenia ME   Francone Aníbal A AA   Charles Martin M   Zompa Tamara T   Pérez Pablo Javier PJ   Lotersztein Vanesa V   Nuova Pedro J PJ   Canonero Ivana B IB   Mahroo Omar A OA   Michaelides Michel M   Arno Gavin G   Daich Varela Malena M  

NPJ genomic medicine 20230522 1


This study corresponds to the first large-scale genetic analysis of inherited eye diseases (IED) in Argentina and describes the comprehensive genetic profile of a large cohort of patients. Medical records of 22 ophthalmology and genetics services throughout 13 Argentinian provinces were analyzed retrospectively. Patients with a clinical diagnosis of an ophthalmic genetic disease and a history of genetic testing were included. Medical, ophthalmological and family history was collected. A total of  ...[more]

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