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Article

Juvenile Batten Disease (CLN3): Detailed Ocular Phenotype, Novel Observations, Delayed Diagnosis, Masquerades, and Prospects for Therapy.

Ophthalmology. Retina - 1 Apr 2020

Wright Genevieve A, Georgiou Michalis, Robson Anthony G, Ali Naser, Kalhoro Ambreen, Holthaus Sm Kleine, Pontikos Nikolas, Oluonye Ngozi, de Carvalho Emanuel R, Neveu Magella M, Weleber Richard G, Michaelides Michel

Abstract excerpt

PURPOSE: To characterize the retinal phenotype of juvenile neuronal ceroid lipofuscinosis (JNCL), highlight delayed and mistaken diagnosis, and propose an algorithm for early identification. DESIGN: Retrospective case series. PARTICIPANTS: Eight children (5 female) with JNCL. METHODS: Review of clinical notes, retinal imaging including fundus autofluorescence and OCT, electroretinography (ERG), and both...

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Identifiers

PMID: 31926949
DOI: 10.1016/j.oret.2019.11.005
PMCID: PMC7479512

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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