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

Ophthalmology Retina
Kyle D KovacsSzilárd Kiss

Abstract

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. Retrospective, single-center cohort. Eighty-four eyes of 42 treatment-naïve patients with CLN2 disease. Clinical records, fundus photographs, and OCT imaging for patients with CLN2 disease collected during examinations under anesthesia were reviewed. Imaging was categorized per WCBS criteria by 3 masked graders. CLN2-associated retinopathy assessed using WCBS scores, fundus photographs, and OCT imaging, correlated with patient age. Eighty-four eyes of 42 patients had baseline fundus photographs, with baseline OCT in 31 eyes of 16 patients. Fundus photographs were obtained serially for 26 eyes of 13 patients, and serial OCT scans were obtained in 10 eyes of 5 patients. At baseline, bilat...Continue Reading

Citations

Dec 15, 2020·Der Ophthalmologe : Zeitschrift der Deutschen Ophthalmologischen Gesellschaft·Yevgeniya AtiskovaSimon Dulz
Jun 10, 2021·Seminars in Ophthalmology·Rohan Bir SinghAniruddha Agarwal

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Batten Disease

Batten Disease is a group of nervous system disorders known as neuronal ceroid lipofuscinosis. This feed focuses on neurobiological and neuropathological aspects of this disease.