Evolution of the retinal function by flash-ERG in one child suffering from neuronal ceroid lipofuscinosis CLN2 treated with  cerliponase alpha: case report

We report the case of one patient suffering from CLN2 treated with intracerebroventricular infusions of cerliponase alpha 300  mg every two weeks. Evolution of his retinal function was assessed by three successive flash-ERG and flash-VEP recordings throughout his treatment over a 4-year period.ResultsBefore treatment at the age of 4  years 5 months, patient’s retinas were normal (normal fundi and normal flash-ERG). After 29 infusions at the age of 6 years 10 months, a-wave combined response was absent, while cone and flicker responses were normal. After 80 infusions at the age of 8 years 9 months, a-wave cone response w as absent with b-wave peak time increased, and no combined response.CommentsDespite treatment, our patient ’s retinas showed a progressive abnormal and inhomogeneous function. Rods function was altered first, then the scotopic system and afterward, the cones. This result differs from those recorded in animal models. The relative preservation of cone functioning for a while could not be unequivocally at tributed to enzyme replacement therapy as we lack comparison with the evolution of flash-ERGs recorded in untreated subjects.
Source: Documenta Ophthalmologica - Category: Opthalmology Source Type: research