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Whole-exome sequencing deciphers the genetic profile of visual impairments in patients from Southwest Iran.

Molecular genetics and genomics : MGG - 1 Sept 2022

Zamani Mina, Sedighzadeh Sahar, Seifi Tahereh, Negahdari Samira, Zeighami Jawaher, Sedaghat Alireza, Shariati Gholamreza, Galehdari Hamid

Abstract excerpt

Genetic ocular diseases are heterogeneous disorders. Recent advances have led to a paradigm shift in the discovery of eye disease-associated genetic variants from linkage and genome-wide association studies to next-generation sequencing-based genome studies. The aim of the current study was to investigate the spectrum of possible vision impairment-related variants in 66 Iranian patients. Whole-exome sequencing...

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PMID: 35754085
DOI: 10.1007/s00438-022-01917-y

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