Identification of the genetic determinants responsible for retinal degeneration in families of Mexican descent.

ABSTRACT:

Purpose

To investigate the clinical characteristics and genetic basis of inherited retinal degeneration (IRD) in six unrelated pedigrees from Mexico.

Methods

A complete ophthalmic evaluation including measurement of visual acuities, Goldman kinetic or Humphrey dynamic perimetry, Amsler test, fundus photography, and color vision testing was performed. Family history and blood samples were collected from available family members. DNA from members of two pedigrees was examined for known mutations using the APEX ARRP genotyping microarray and one pedigree using the APEX LCA genotyping microarray. The remaining three pedigrees were analyzed using a custom-designed targeted capture array covering the exons of 233 known retinal degeneration genes. Sequencing was performed on Illumi

SUBMITTER: Villanueva A 

PROVIDER: S-EPMC6143363 | biostudies-literature | 2018 Jan-Feb

REPOSITORIES: biostudies-literature