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Wydanie 3/2019
str. 26 - 28

Ceroidolipofuscynoza typu 2 – opis przypadku

Neuronal Ceroid Lipofuscinosis Type 2 – Case Report

Monika Modrzejewska, Marta Kirkiewicz, Adriana Kiszkielis, Wojciech Lubiński

II Katedra i Klinika Okulistyki Pomorskiego Uniwersytetu Medycznego
Kierownik: prof. dr hab. n. med. Wojciech Lubiński

Summary: Introduction: Type 2 Neuronal Ceroidolipofuscinosis (CLN2) is a rare lysosomal neurodegenerative disease in which ceroid accumulates mainly in nerve cells. The disease manifests itself in the first years of a child`s life as blindness, epilepsy and the deterioration of motor skills.
Case report: A five-year old, uncooperative patient was referred to the Children`s Department of the II Ophthalmology Clinic in Szczecin to assess ophthalmological changes in the course of CLN2. Under general anaesthesia, assessment of the anterior and posterior segment of the eye with a RetCam examination, and a flash electroretinogram (fERG) was performed. An eye fundus exam revealed an optic disc pallor, bull’s eye maculopathy, arteriolar narrowing and minor peripheral pigmentation. Electrophysiological tests revealed abnormal retinal bioelectrical function to a greater extent in the cone system than in the rod system.
Conclusions: Patients with CNL2 experience changes in electrophysiological test results, which may be accompanied by various changes at the fundus. There is a need to perform such tests to confirm damage to the function of the eye.

Słowa kluczowe: ceroidolipofuscynoza, makulopatia typu bawole oko, dystrofia siatkówki, elektrofizjologia.

Keywords: neuronal ceroid lipofuscinosis, bull’s eye maculopathy, retinal dystrophy, electrophysiology.

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