PCARE-Associated Retinopathy - Genetics, Clinical Characteristics, and Natural History.

ABSTRACT:

Purpose

The purpose of this study was to describe the mutational landscape, clinical characteristics, and natural history of PCARE-associated retinopathy.

Methods

Retrospective cohort study including 28 patients (56 eyes) affected by an inherited retinal disease related to PCARE variants. The main outcome measures were best-corrected visual acuity (BCVA) and degree of vision impairment, kinetic visual field (KVF) area delimited with the V4e target, area of macular atrophy (MA) with definitely decreased autofluorescence (DDAF) on short-wavelength autofluorescence, total macular volume (TMV) and foveal sparing (FS) on optical coherence tomography.

Results

The median age at first examination was 40.7 years (Interquartile range [IQR] = 28.8-49.6), whereas the median follo

SUBMITTER: Bianco L 

PROVIDER: S-EPMC12020960 | biostudies-literature | 2025 Apr

REPOSITORIES: biostudies-literature