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Article

Impact of Next Generation Sequencing in Unraveling the Genetics of 1036 Spanish Families With Inherited Macular Dystrophies.

Investigative ophthalmology & visual science - 1 Feb 2022

Del Pozo-Valero Marta, Riveiro-Alvarez Rosa, Martin-Merida Inmaculada, Blanco-Kelly Fiona, Swafiri Saoud, Lorda-Sanchez Isabel, Trujillo-Tiebas Maria José, Carreño Ester, Jimenez-Rolando Belen, Garcia-Sandoval Blanca, Corton Marta, Avila-Fernandez Almudena, Ayuso Carmen

Abstract excerpt

Purpose: To assess the potential of next-generation sequencing (NGS) technologies to characterize cases diagnosed with autosomal recessive (ar) or sporadic (s) macular dystrophies (ar/sMD) and describe their mutational spectrum. Methods: A cohort of 1036 families was classified according to their suspected clinical diagnosis-Stargardt disease (STGD), cone and cone-rod dystrophy (CCRD) or other maculopathies...

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Identifiers

PMID: 35119454
DOI: 10.1167/iovs.63.2.11
PMCID: PMC8819279

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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