ArticleRetinal cases & brief reports2016
OPTICAL COHERENCE TOMOGRAPHY IN JUVENILE NEURONAL CEROID LIPOFUSCINOSIS.
Article in Retinal cases & brief reports, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers, 1 of them a synthesis that pooled it.
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Who cites it
7 citing papers in PubMed, 1 synthesis or guideline pooled it, 18 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
- [Retinal OCT biomarkers and neurodegenerative diseases of the central nervous system beyond Alzheimer's disease].Die Ophthalmologie · 2024Review
- Early recognition of CLN3 disease facilitated by visual electrophysiology and multimodal imaging.Documenta ophthalmologica. Advances in ophthalmology · 2023Article
- Recognizing differentiating clinical signs of CLN3 disease (Batten disease) at presentation.Acta ophthalmologica · 2021Article
- 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
- Clinical and molecular characterization of non-syndromic retinal dystrophy due to c.175G>A mutation in ceroid lipofuscinosis neuronal 3 (CLN3).Documenta ophthalmologica. Advances in ophthalmology · 2019Article
- Vision loss in juvenile neuronal ceroid lipofuscinosis (CLN3 disease).Annals of the New York Academy of Sciences · 2016Review
Corrections and comments
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Authors and funding
4 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeTo report optical coherence tomography findings obtained in two patients with juvenile neuronal ceroid lipofuscinosis.
methodsTwo case reports.
resultsTwo 7-year-old girls presented with decreased visual acuity, clumsiness, night blindness, and behavioral problems. Optical coherence tomography showed an overall reduction in thickness of the central retina, as well as the outer and the inner retinal layers. The degenerative retinal changes were the same, despite different mutations in the CLN3 gene.
conclusionIn these rare cases of juvenile neuronal ceroid lipofuscinosis, optical coherence tomography enabled unambiguous detection of prominent morphologic abnormalities of the retina at the patient's first presentation. The advanced stage of photoreceptor degeneration seen in our patients shows that a diagnosis can potentially be made much earlier.
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