Symmetric Age Association of Retinal Degeneration in Patients with CLN2-Associated Batten Disease.

ABSTRACT:

Purpose

Mutations in the CLN2 gene lead to a neurodegenerative and blinding lysosomal storage disorder: late infantile neuronal ceroid lipofucinosis, also known as "CLN2 disease." The purpose of the current study was to characterize the evolution of CLN2-associated retinal manifestations using the Weill Cornell Batten Scale (WCBS) and the age association of the retinal degeneration using central subfield thickness (CST) measurements and then correlate these findings with fundus photography and OCT to determine a critical period for retinal intervention.

Design

Retrospective, single-center cohort.

Participants

Eighty-four eyes of 42 treatment-naïve patients with CLN2 disease.

Methods

Clinical records, fundus photographs, and OCT imaging for patients with CLN2 di

SUBMITTER: Kovacs KD 

PROVIDER: S-EPMC7354207 | biostudies-literature | 2020 Jul

REPOSITORIES: biostudies-literature