Retinal function in patients with the neuronal ceroid lipofuscinosis phenotype

Area of Science:

• Ophthalmology
• Neurology
• Genetics

Background:

• Neuronal ceroid lipofuscinosis (NCL) encompasses a group of rare, inherited neurodegenerative disorders.
• These disorders are characterized by progressive vision loss, neurological decline, and cognitive impairment.
• Early diagnosis is crucial for management and genetic counseling.

Purpose of the Study:

• To analyze clinical features, visual acuity, and full-field electroretinogram (ERG) findings in patients with the NCL phenotype.
• To determine the diagnostic utility of ERG testing in NCL.

Main Methods:

• Retrospective analysis of medical records from 15 patients with NCL phenotypes (infantile NCL, Jansky-Bielschowsky disease, juvenile NCL).
• Inclusion of patients who underwent full-field ERG testing.

Main Results:

• Progressive vision loss was the primary symptom in 66.7% of patients.
• Epilepsy (93.3%) and neurodevelopmental involution (86.6%) were common comorbidities.
• ERG revealed abnormalities in all patients, with a majority showing combined cone-rod and rod-cone dysfunction.

Conclusions:

• Full-field ERG testing is a valuable tool for characterizing visual dysfunction in NCL.
• ERG findings support its utility in the diagnosis of neuronal ceroid lipofuscinosis.