Details

Autor(en) / Beteiligte

• González-Iglesias, Eva
• López-Vázquez, Ana
• Noval, Susana
• Nieves-Moreno, María
• Granados-Fernández, María
• Arruti, Natalia
• Rosa-Pérez, Irene
• Pacio-Míguez, Marta
• Montaño, Victoria E F
• Rodríguez-Solana, Patricia
• Del Pozo, Angela
• Santos-Simarro, Fernando
• Vallespín, Elena

Titel

Next-Generation Sequencing Screening of 43 Families with Non-Syndromic Early-Onset High Myopia: A Clinical and Genetic Study

Ist Teil von

• International journal of molecular sciences, 2022-04, Vol.23 (8), p.4233

Ort / Verlag

Switzerland: MDPI AG

Erscheinungsjahr

2022

Link zum Volltext

Quelle

MEDLINE

Beschreibungen/Notizen

• Early-onset high myopia (EoHM) is a disease that causes a spherical refraction error of ≥-6 diopters before 10 years of age, with potential multiple ocular complications. In this article, we report a clinical and genetic study of 43 families with EoHM recruited in our center. A complete ophthalmological evaluation was performed, and a sample of peripheral blood was obtained from proband and family members. DNA was analyzed using a customized next-generation sequencing panel that included 419 genes related to ophthalmological disorders with a suspected genetic cause, and genes related to EoHM pathogenesis. We detected pathogenic and likely pathogenic variants in 23.9% of the families and detected variants of unknown significance in 76.1%. Of these, 5.7% were found in genes related to non-syndromic EoHM, 48.6% in genes associated with inherited retinal dystrophies that can include a syndromic phenotype, and 45.7% in genes that are not directly related to EoHM or retinal dystrophy. We found no candidate genes in 23% of the patients, which suggests that further studies are needed. We propose a systematic genetic analysis for patients with EoHM because it helps with follow-up, prognosis and genetic counseling.