Clinical and genetic findings in Italian patients with sector retinitis pigmentosa.

ABSTRACT:

Purpose

To describe clinical and genetic features in a series of Italian patients with sector retinitis pigmentosa (sector RP).

Methods

Fifteen patients with sector RP were selected from the database of Hereditary Retinal Degenerations Referring Center of Careggi Hospital (Florence, Italy). Eleven patients from five independent pedigrees underwent genetic analysis with next-generation sequencing (NGS) confirmed with Sanger sequencing. The diagnosis of sector RP was based on the detection of topographically limited retinal abnormalities consistent with corresponding sectorial visual field defects. Best-corrected visual acuity (BCVA), fundus color pictures as well as fundus autofluorescence (FAF), spectral domain-optical coherence tomography (SD-OCT), full-field electroretinog

SUBMITTER: Verdina T 

PROVIDER: S-EPMC7937404 | biostudies-literature | 2021

REPOSITORIES: biostudies-literature