ArticleThe British journal of ophthalmology2006
Batten disease: features to facilitate early diagnosis.
Article in The British journal of ophthalmology, 2006. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 32 papers, 1 of them a synthesis that pooled it.
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The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
32 citing papers in PubMed, 1 synthesis or guideline pooled it, 68 citations in OpenAlex.
- Recommendations for the diagnosis and management of cln3 disease (batten disease) using the Delphi consensus methodology.Orphanet journal of rare diseases · 2026Guideline
- Trial
- Therapeutic antisense oligonucleotide mitigates retinal dysfunction in a pig model of CLN3 Batten disease.Nucleic acids research · 2025Article
- Electrodiagnostic tests of the visual pathway and applications in neuro-ophthalmology.Eye (London, England) · 2024Review
- Overlap between ophthalmology and psychiatry - A narrative review focused on congenital and inherited conditions.Psychiatry research · 2024Review
- A novel porcine model of CLN3 Batten disease recapitulates clinical phenotypes.Disease models & mechanisms · 2023Article
- Early recognition of CLN3 disease facilitated by visual electrophysiology and multimodal imaging.Documenta ophthalmologica. Advances in ophthalmology · 2023Article
- Sex-split analysis of pathology and motor-behavioral outcomes in a mouse model of CLN8-Batten disease reveals an increased disease burden and trajectory in female Cln8Orphanet journal of rare diseases · 2022Article
- Bilateral visual loss, behavioral changes, and overlooking in a young child with stargardt disease: Neurodiagnostic considerations.American journal of ophthalmology case reports · 2022Article
- An ERG and OCT study of neuronal ceroid lipofuscinosis CLN2 Battens retinopathy.Eye (London, England) · 2021Article
- Automated Retinal Layer Segmentation in CLN2-Associated Disease: Commercially Available Software Characterizing a Progressive Maculopathy.Translational vision science & technology · 2021Article
- A novel deletion variant in CLN3 with highly variable expressivity is responsible for juvenile neuronal ceroid lipofuscinoses.Acta neurologica Belgica · 2021Article
- Current Insights in Elucidation of Possible Molecular Mechanisms of the Juvenile Form of Batten Disease.International journal of molecular sciences · 2020Review
- Loss of CLN3, the gene mutated in juvenile neuronal ceroid lipofuscinosis, leads to metabolic impairment and autophagy induction in retinal pigment epithelium.Biochimica et biophysica acta. Molecular basis of disease · 2020Article
- Symmetric Age Association of Retinal Degeneration in Patients with CLN2-Associated Batten Disease.Ophthalmology. Retina · 2020Article
- Gene Therapy Targeting the Inner Retina Rescues the Retinal Phenotype in a Mouse Model of CLN3 Batten Disease.Human gene therapy · 2020Article
- Juvenile Batten Disease (CLN3): Detailed Ocular Phenotype, Novel Observations, Delayed Diagnosis, Masquerades, and Prospects for Therapy.Ophthalmology. Retina · 2020Article
- Topological Alterations of the Structural Brain Connectivity Network in Children with Juvenile Neuronal Ceroid Lipofuscinosis.AJNR. American journal of neuroradiology · 2019Article
- Mice deficient in the lysosomal enzyme palmitoyl-protein thioesterase 1 (PPT1) display a complex retinal phenotype.Scientific reports · 2019Article
- Considerations in multi-gene panel testing in pediatric ophthalmology.Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus · 2019Article
Corrections and comments
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Authors and funding
4 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
aimsTo ascertain the clinical and electrophysiological features in patients with juvenile neuronal ceroid lipofuscinosis (jNCL/Batten disease) and to identify those features that facilitate early diagnosis.
methodsNine patients with jNCL were identified retrospectively and their case notes reviewed. All had undergone an extensive clinical examination, including electrophysiology. Blood and molecular genetic testing confirmed the diagnosis.
resultsAge at onset ranged from 4-8 years. At presentation, two of nine patients had normal fundi; only two of nine patients had a bull's eye maculopathy. The electroretinogram (ERG) findings in this series included undetectable rod specific ERGs, an electronegative maximal response, reduced and delayed cone flicker ERGs, reduction in the b:a ratio in the photopic single flash ERG, and an undetectable pattern ERG. Vacuolated lymphocytes on peripheral blood film testing were present in eight of nine patients. Five of eight patients were homozygous for the 1.02 kb deletion on the CLN3 gene on molecular genetic testing; two of eight patients were heterozygous for that deletion.
conclusionjNCL should be considered in children of 10 years and under presenting with visual loss and fundal changes ranging from normal through to pigmentary/atrophic changes or a bull's eye maculopathy. Electrophysiology may suggest jNCL. Although currently untreatable, early diagnosis is important to institute appropriate counselling and support.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.