Visual perception and macular integrity in non-classical CLN2 disease

Graefes Arch Clin Exp Ophthalmol. 2022 Nov;260(11):3693-3700. doi: 10.1007/s00417-022-05662-1.

PMID: 35652945

Yevgeniya Atiskova, Jan Wildner, Eva Wibbeler

Highlights: The aim of the study was to provide longitudinal ophthalmic data of CLN2 patients with confirmed genetic mutation and non-classical disease course, marked by later onset, protracted progression and prolonged life span.

Abstract

Purpose: Patients with CLN2 experience early infantile eyesight loss, fast psychomotor deterioration, and epileptic seizures. The purpose of the study was to provide longitudinal ocular data of individuals with a non-classical disease course, defined by a delayed onset, prolonged progression, and prolonged life span, and a verified genetic mutation.

Methods: A prospective, observational study was conducted in non-classical CLN2 patients to evaluate visual acuity, retinal characteristics (Weil Cornell Ophthalmic Score), central retinal thickness (CRT), which was determined by optical coherence tomography, and overall disease progression (Hamburg CLN2 motor language score).

Results: Cerliponase alfa was used as intracerebroventricular enzyme replacement therapy for all patients. Mean age at last follow-up was 12.4 years; mean follow-up time 2.6 years. Both the Weill Cornell LINCL Ophthalmic Severity Score and the Hamburg Motor Language CLN2 Score were steady in all patients. In 4/6 patients, visual function remained steady; in 2/6 patients, it decreased. In 4/6 cases, CRT remained stable; in 2/6 cases, it decreased. One patient had limited eyesight and a severe macular thinning. It was impossible to confirm a connection between a particular mutation or age.

Discussion: The presented longitudinal study contributes to the description of natural history and characterizes the varying ocular involvement in non-classical CLN2 disease. The functional and morphologic data demonstrate the importance of routine eye exams. Ocular phenotyping and description of retinal degeneration in non-classical CLN2 disease.

Keywords: CLN2 disease, Eye, Macula, NCL, Retina, Retinal degeneration, Vision