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Article

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

International journal of molecular sciences - 11 Apr 2022

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

Abstract excerpt

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...

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Corneal surgery and disorders
DNA Mutational Analysis
High-Throughput Nucleotide Sequencing
Mutation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Ophthalmology and Visual Impairment Studies

Retinal Dystrophies

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Identifiers

PMID: 35457050
DOI: 10.3390/ijms23084233
PMCID: PMC9031962

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