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

ABSTRACT:

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 microscopy and molecular genetic testing.

Main outcome measurements

Demographic data, signs and symptoms, visual acuity (VA), fundus autofluorescence and OCT findings, ERG phenotype, and microscopy/molecular genetics.

Results

Participants presented with rapid bilateral vision loss over 1 to 18 months, with mean VA deteriorating from 0.44 logarithm of t

SUBMITTER: Wright GA 

PROVIDER: S-EPMC7479512 | biostudies-literature | 2020 Apr

REPOSITORIES: biostudies-literature