Phenotyping heterozygous carriers of juvenile neuronal ceroid lipofuscinosis with CLN3 mutations.

PURPOSE: The objective of this study was to establish an ophthalmologic phenotype of heterozygous carriers of juvenile neuronal ceroid lipofuscinosis (CLN3 disease, Batten disease). METHODS: The eyes and vision of nine heterozygous carriers of juvenile neuronal ceroid lipofuscinosis with classical CLN3 mutations were examined using the following methods: clinical examination, visual acuity, ophthalmoscopy, optical coherence tomography (macular thickness and peripapillary retinal nerve fibre layer measurement [RNFL]), fundus autofluorescence measurement, infrared imaging, and full-field and multifocal electroretinogram. Optical coherence tomography and electrophysiological data were statistically compared with age- and sex-matched control groups. RESULTS: The basic clinical examination as well as the fundus autofluorescence and infrared images of the macular region were unremarkable. Neither the electrophysiological examinations nor optical coherence tomography yielded fundamental abnormalities. There were only two significant-albeit most likely clinically irrelevant-differences that occurred in comparison to the control group: a decrease in RNFL of the nasal quadrant in the OCT and a prolongation of the N1 implicit time of the second-ring eccentricity in the multifocal electroretinogram. CONCLUSIONS: The eyes and vision of heterozygous carriers of CLN3 disease showed normal features when compared to a control group, which controverts a previously suggested retinal dysfunction in these subjects.