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

Area of Science:

• Ophthalmology
• Neurology
• Genetics

Background:

• Neuronal Ceroid Lipofuscinosis type 2 (CLN2) disease typically presents in early childhood with seizures, psychomotor decline, and vision loss.
• Non-classical CLN2 disease courses are characterized by later onset, slower progression, and extended lifespan.
• Longitudinal ophthalmic data in non-classical CLN2 disease are limited, necessitating further natural history studies.

Purpose of the Study:

• To provide longitudinal ophthalmic data in patients with genetically confirmed non-classical CLN2 disease.
• To characterize the ocular manifestations and disease progression in this specific patient cohort.
• To inform the necessity and frequency of ophthalmic examinations in managing non-classical CLN2 disease.

Main Methods:

• Prospective, observational study design.
• Assessment of visual acuity, retinal features using the Weil Cornell Ophthalmic Score, and central retinal thickness via optical coherence tomography.
• Evaluation of general disease progression using the Hamburg CLN2 motor language score.

Main Results:

• Patients received intracerebroventricular enzyme replacement therapy with cerliponase alfa.
• Mean age at last follow-up was 12.4 years, with a mean follow-up of 2.6 years.
• While most patients maintained stable visual function and retinal thickness, some showed decline. One patient experienced significant macular thinning and vision loss. No correlation with specific mutations or age was found.

Conclusions:

• The study highlights the variable ocular involvement in non-classical CLN2 disease.
• Functional and morphologic ophthalmic data underscore the importance of regular eye examinations.
• This research contributes to the natural history description and ocular phenotyping of non-classical CLN2 disease.