2026-04-14T06:21:49Zhttps://recercat.cat/oai/request

oai:recercat.cat:2117/4142452026-01-21T06:38:34Zcom_2072_1033col_2072_452950

urn:hdl:2117/414245 Clinical and genetic spectrum of coloboma: A proposal for a comprehensive approach to pediatric patients Ferri Rufete, David Baleta Riera, L. Casas Alba, Dídac Balsells Mejía, Sol Llorca Cardeñosa, Ana Barraso Rodrigo, Marina Català Mora, Jaume Casas Gimeno, Ester Díaz Cascajosa, David Fresno Cañada, Carlos Palau, Francesc Martínez Montseny, Antonio Àrees temàtiques de la UPC::Ciències de la visió Eye -- Diseases Human chromosome abnormalities -- Diagnosis Children with visual disabilities Pediatric ophthalmology Coloboma Pediatric patients Genetic testing Clinical genetics Ophthalmology Ulls -- Malalties Cromosomes humans -- Anomalies -- Diagnòstic Infants amb discapacitat visual Oftalmologia pediàtrica Purpose to analyze pediatric coloboma cases to (1) identify ophthalmological and systemic associations, (2) establish the variables with the highest probability of reaching a genetic diagnosis and worse visual prognosis and (3) propose a clinical and genetical assessment protocol. Design and methods Descriptive, retrospective and single-center study. Patients under 18 years of age diagnosed with iris, chorio-retinal and/or optic disc coloboma under follow-up by a reference Pediatric Ophthalmology Unit have been selected from January 2012 to December 2022. A comprehensive data collection and analysis was performed to evaluate phenotype, molecular and prognosis correlations. Results A total of 214 patients with a mean age of 11.3 years (6.8 SD) were included (57% female). Among them, 50.9% presented with bilateral coloboma and 66.8% with other ophthalmological alterations (28.5% with microphthalmia). Systemic involvement was observed in 28%, being neurological dysfunction (24.8%) and craniofacial dysmorphic features (18.2%) the most frequent. Molecular diagnosis was reached in 19.2% and clinical exome sequencing had the highest diagnostic yield (22.2%). Bilaterality, macula involvement, short stature and neurological, craniofacial dysmorphic, cardiovascular, and renal anomalies were associated with reaching a genetic diagnosis (p < 0.05). Patients with craniofacial dysmorphic features, hearing, neurologic, cardiac abnormalities or short stature had a worse visual prognosis according with a multivariate model (p < 0.05). A diagnosis and follow-up protocol was developed. Conclusion It is imperative to ascertain diagnostic and prognostic indicators in individuals with coloboma to facilitate genetic counseling, mitigate potential complications, and enhance the overall well-being of patients and their families. Peer Reviewed Postprint (published version) 2024-10 Article https://www.sciencedirect.com/science/article/pii/S2950253524000613 http://creativecommons.org/licenses/by-nc/4.0/ Open Access Attribution-NonCommercial 4.0 International Elsevier BV