A retrospective longitudinal study of 52 Finnish patients with X-linked retinoschisis.

ABSTRACT:

Purpose

To describe clinical characteristics in Finnish patients with X-linked retinoschisis (XLRS) longitudinally with emphasis on retinal morphology and genotype-phenotype correlations.

Methods

A retrospective cohort study reviewed medical records from patients with genetically confirmed XLRS from the Department of Ophthalmology, Helsinki University Hospital. Best-corrected visual acuity (BCVA), refraction, colour fundus photography, spectral-domain optical coherence tomography and genetic information were collected.

Results

Fifty-two males were diagnosed at the median age of 7 years (range 1-57) and followed for a median of 8 years (range, 1-49). Baseline findings included macular retinoschisis in 92 (89%), macular atrophy in 25 (24%) and peripheral retinoschisis i

SUBMITTER: Jarvinen MA 

PROVIDER: S-EPMC11810562 | biostudies-literature | 2025 Mar

REPOSITORIES: biostudies-literature