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Klin Monbl Augenheilkd 2024; 241(04): 538-539
DOI: 10.1055/a-2227-4131
Der interessante Fall

Progressive Visual Loss Is Not Always Accompanied by Neurodegenerative Disorder in Juvenile Neuronal Ceroid Lipofuscinosis: A Case Report

In der juvenilen neuronalen Ceroid-Lipofuszinose muss ein fortgeschrittener Verlust der Sehstärke nicht zwangsläufig mit einer neurodegenerativen Beeinträchtigung einhergehen
Felix Hundsberger
1   Department of Ophthalmology, Cantonal Hospital St. Gallen, Switzerland
,
Pascal Escher
2   University Clinic of Ophthalmology, University Hospital Bern, Switzerland
,
Veit Sturm
3   Department of Ophthalmology, University Hospital Zurich, Switzerland
,
Margarita G. Todorova
1   Department of Ophthalmology, Cantonal Hospital St. Gallen, Switzerland
3   Department of Ophthalmology, University Hospital Zurich, Switzerland
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Introduction

Juvenile neuronal ceroid lipofuscinosis (JNCL) is one of the many types of NCLs, which are a group of inherited neurodegenerative lysosomal storage disorders. Type 3, the classic and most common form, is caused by homozygous or compound heterozygous pathogenic variants in the CLN3 gene that encodes a lysosomal transmembrane protein. This yields in unbalanced cellular homeostasis and increased neuronal loss, as the physiological protein is predicted to be a pH regulator and modulator of vesicular transport and fusion [1]. Clinical symptoms mostly present between 5 – 10 years of age and manifest as progressive vision loss and, rarely, seizures. Cognitive and behavioural impairment is thought to appear a few years after the onset of visual impairment [1]. This is, however, not always the case. The aim of this case report is to describe the unusual phenotypic presentation of juvenile NCL3 in a patient of Swiss descent.



Publication History

Received: 26 October 2023

Accepted: 04 December 2023

Article published online:
23 April 2024

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  • References

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