Long-term follow-up of retinal function and structure in TRPM1-associated complete congenital stationary night blindness.

ABSTRACT: Purpose:TRPM1-associated congenital stationary night blindness (CSNB) is characterized by nystagmus and high myopia. We assessed retinal function and structure over long-term follow-up up to 10 years in two siblings from a family with the homozygous deletion c.2394delC in exon 18 that we previously identified. In addition, we describe retinal function and structure in two other siblings with the novel homozygous c.1394T>A (p.Met465Lys) missense mutation. Methods:Clinical examination included full-field electroretinography, axial length measurements, and multimodal retinal imaging. Molecular genetic tests included next-generation sequencing and Sanger sequencing. Results:All patients had non-recordable rod responses and electronegative configuration of the rod-cone responses at presentation

SUBMITTER: Al-Hujaili H 

PROVIDER: S-EPMC6937218 | biostudies-literature | 2019

REPOSITORIES: biostudies-literature