Visual perception and macular integrity in non-classical CLN2 disease.

Autor: Atiskova Y; Department of Ophthalmology, University Medical Center Hamburg-Eppendorf, Martinistraße 52, 20246, Hamburg, Germany., Wildner J; Department of Ophthalmology, University Medical Center Hamburg-Eppendorf, Martinistraße 52, 20246, Hamburg, Germany., Wibbeler E; Department of Pediatrics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Nickel M; Department of Pediatrics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Spitzer MS; Department of Ophthalmology, University Medical Center Hamburg-Eppendorf, Martinistraße 52, 20246, Hamburg, Germany., Schwering C; Department of Pediatrics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Schulz A; Department of Pediatrics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Dulz S; Department of Ophthalmology, University Medical Center Hamburg-Eppendorf, Martinistraße 52, 20246, Hamburg, Germany. s.dulz@uke.de.
Jazyk: angličtina
Zdroj: Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie [Graefes Arch Clin Exp Ophthalmol] 2022 Nov; Vol. 260 (11), pp. 3693-3700. Date of Electronic Publication: 2022 Jun 02.
DOI: 10.1007/s00417-022-05662-1
Abstrakt: Purpose: Patients with CLN2 suffer from epileptic seizures, rapid psychomotor decline and vision loss in early childhood. The aim of the study was to provide longitudinal ophthalmic data of patients with confirmed genetic mutation and non-classical disease course, marked by later onset, protracted progression and prolonged life span.
Methods: Prospective, observational study to assess visual acuity, retinal features (Weil Cornell Ophthalmic Score), central retinal thickness (CRT) measured by optical coherence tomography and general disease progression (Hamburg CLN2 motor language score) in non-classical CLN2 patients.
Results: All patients received intracerebroventricular enzyme replacement therapy with cerliponase alfa. Mean age at last follow-up was 12.4 years; mean follow-up time 2.6 years. All cases demonstrated a stable Hamburg motor language CLN2 Score and Weill Cornell LINCL Ophthalmic Severity Score. Visual function remained stable in 4/6 patients, 2/6 patients showed a decrease, 4/6 cases had a stable CRT and 2/6 showed a reduction of CRT. One patient showed a massive macular thinning and low vision. A correlation with a specific mutation or age could not be verified.
Discussion: The presented longitudinal study characterizes the variable ocular involvement in non-classical CLN2 disease and contributes to the natural history description. The functional and morphologic data outline the necessity of regular ophthalmic examination. Ocular phenotyping and description of retinal degeneration in non-classical CLN2 disease.
(© 2022. The Author(s).)
Databáze: MEDLINE
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