Related Experiment Video
Updated: Dec 5, 2025
Abbiategrasso Brain Bank Protocol for Collecting, Processing and Characterizing Aging Brains
Published on: June 3, 2020
Recognizing differentiating clinical signs of CLN3 disease (Batten disease) at presentation
Willemijn F E Kuper1, Herman E Talsma2, Mary J van Schooneveld2,3
1Department of Metabolic Diseases, Wilhelmina Children's Hospital, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands.
Insights
Children with CLN3 (Batten) disease show faster vision loss and more severe color vision issues than those with early-onset Stargardt disease (STGD1). Differentiating these conditions early is key for proper care.
Area of Science:
- Ophthalmology
- Genetics
- Pediatric Medicine
Background:
- Childhood vision loss can stem from various genetic disorders.
- CLN3 (Batten) disease and early-onset Stargardt disease (STGD1) present with similar initial symptoms, complicating diagnosis.
- Accurate early diagnosis is crucial for appropriate management and genetic counseling.
Purpose of the Study:
- To establish key clinical differences to distinguish CLN3 disease from early-onset STGD1 in children.
- To aid ophthalmologists in the early identification of CLN3 disease for timely intervention.
Main Methods:
- Retrospective chart review of 38 children diagnosed with either CLN3 disease or early-onset STGD1.
- Analysis of clinical presentation, visual acuity, color vision, fundoscopy, optical coherence tomography, and electroretinogram (ERG) findings.
Main Results:
- Children with CLN3 disease experienced significantly faster visual acuity decline compared to STGD1 patients (p=0.01).
- Severe color vision impairment was common in CLN3 disease, while often mild or absent in STGD1.
- Fundoscopy revealed optic disc pallor and OCT showed abnormal nerve fiber layers in CLN3 disease, unlike STGD1.
- Dark-adapted ERG responses were absent or electronegative in CLN3 disease, but generally unaffected in STGD1.
Conclusions:
- The retina is more severely affected in CLN3 disease at initial presentation than in STGD1.
- Rapid vision loss, severe color vision deficits, and abnormal dark-adapted ERG are primary early clinical indicators for CLN3 disease.
Purpose:
To help differentiate CLN3 (Batten) disease, a devastating childhood metabolic disorder, from the similarly presenting early-onset Stargardt disease (STGD1). Early clinical identification of children with CLN3 disease is essential for adequate referral, counselling and rehabilitation.
Methods:
Medical chart review of 38 children who were referred to a specialized ophthalmological centre because of rapid vision loss. The patients were subsequently diagnosed with either CLN3 disease (18 patients) or early-onset STGD1 (20 patients).
Results:
Both children who were later diagnosed with CLN3 disease, as children who were later diagnosed with early-onset STGD1, initially presented with visual acuity (VA) loss due to macular dystrophy at 5-10 years of age. VA in CLN3 disease decreased significantly faster than in STGD1 (p = 0.01). Colour vision was often already severely affected in CLN3 disease while unaffected or only mildly affected in STGD1. Optic disc pallor on fundoscopy and an abnormal nerve fibre layer on optical coherence tomography were common in CLN3 disease compared to generally unaffected in STGD1. In CLN3 disease, dark-adapted (DA) full-field electroretinogram (ERG) responses were either absent or electronegative. In early-onset STGD1, DA ERG responses were generally unaffected. None of the STGD1 patients had an electronegative ERG.
Conclusion:
Already upon presentation at the ophthalmologist, the retina in CLN3 disease is more extensively and more severely affected compared to the retina in early-onset STGD1. This results in more rapid VA loss, severe colour vision abnormalities and abnormal DA ERG responses as the main differentiating early clinical features of CLN3 disease.
Related Concept Videos
03:14Notch Signaling Pathway
The Notch gene came into the limelight in 1914 after the discovery that its mutation in Drosophila melanogaster leads to a serrated (or "notched") wing margin phenotype. It was not...
01:21Peripheral Arterial Disease II: Clinical Manifestations and Diagnostic Evaluation