Batten disease: features to facilitate early diagnosis

Area of Science:

• Ophthalmology
• Genetics
• Pediatrics

Background:

• Juvenile Neuronal Ceroid Lipofuscinosis (jNCL), also known as Batten disease, is a rare genetic neurodegenerative disorder.
• It primarily affects children, leading to progressive vision loss and neurological decline.

Purpose of the Study:

• To define the clinical and electrophysiological characteristics of jNCL in young patients.
• To identify key features that enable earlier diagnosis of jNCL.

Main Methods:

• Retrospective review of nine jNCL patients' case notes.
• Comprehensive clinical examination, including electroretinography (ERG).
• Peripheral blood smear analysis and CLN3 gene mutation testing.

Main Results:

• Age at onset was 4-8 years; fundus findings varied from normal to bull's eye maculopathy.
• ERG abnormalities included undetectable rod responses, electronegative maximal response, and reduced cone flicker responses.
• Vacuolated lymphocytes were present in 8/9 patients; CLN3 gene deletions were identified in 7/8 patients.

Conclusions:

• jNCL should be suspected in children ≤10 years with visual loss and variable fundal changes.
• Electrophysiological testing can suggest jNCL.
• Early diagnosis is vital for genetic counseling and supportive care, despite the lack of current treatments.