Congenital Stationary Night Blindness: Structure, Function and Genotype-Phenotype Correlations in a Cohort of 122 Patients.

ABSTRACT:

Objective

To examine the molecular causes of Schubert-Bornschein (S-B) congenital stationary night blindness (CSNB), clinically characterize in detail, and assess genotype-phenotype correlations for retinal function and structure.

Design

Retrospective, longitudinal, single-center case series.

Participants

One hundred twenty-two patients with S-B CSNB attending Moorfields Eye Hospital, United Kingdom.

Methods

All case notes, results of molecular genetic testing, and OCT were reviewed.

Main outcome measures

Molecular genetics, presenting complaints, rates of nystagmus, nyctalopia, photophobia, strabismus, color vision defects and spherical equivalent refraction (SER). Retinal thickness, outer nuclear layer (ONL) thickness, and ganglion cell layer + inner p

SUBMITTER: Katta M 

PROVIDER: S-EPMC11752838 | biostudies-literature | 2024 Sep

REPOSITORIES: biostudies-literature