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Invest Ophthalmol Vis Sci. 2018 Sep 4;59(11):4384-4391. doi: 10.1167/iovs.18-24817.

Clinical Characterization of 66 Patients With Congenital Retinal Disease Due to the Deep-Intronic c.2991+1655A>G Mutation in CEP290.

Author information

1
Department of Ophthalmology, Radboud University Medical Center, Nijmegen, The Netherlands.
2
Radboud University Medical Center, Donders Institute for Brain, Cognition and Behavior, Cognitive Neuroscience Department, Nijmegen, The Netherlands.
3
Department of Ophthalmology, Ghent University and Ghent University Hospital, Ghent, Belgium.
4
Center for Medical Genetics Ghent, Ghent University and Ghent University Hospital, Ghent, Belgium.
5
Department of Ophthalmology, Giessen University Medical Center, Giessen, Germany.
6
Bartiméus Institute for the Visually Impaired, Zeist and Doorn, The Netherlands.
7
Department of Ophthalmology, Righospitalet, Glostrup, Denmark.
8
Department of Clinical Genetics, Righospitalet, Copenhagen, Denmark.
9
Department of Ophthalmology, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.
10
Department of Ophthalmology, Erasmus Medical Center, Rotterdam, the Netherlands.
11
Department of Epidemiology, Erasmus Medical Center, Rotterdam, the Netherlands.
12
Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.
13
Department of Ophthalmology, Academic Medical Center, Amsterdam, The Netherlands.
14
Division of Ophthalmology & Center for Cellular & Molecular Therapeutics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, United States.
15
The Rotterdam Eye Hospital and Rotterdam Ophthalmic Institute, Rotterdam, The Netherlands.
16
Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.

Abstract

Purpose:

To describe the phenotypic spectrum of retinal disease caused by the c.2991+1655A>G mutation in CEP290 and to compare disease severity between homozygous and compound heterozygous patients.

Methods:

Medical records were reviewed for best-corrected visual acuity (BCVA), age of onset, fundoscopy descriptions. Foveal outer nuclear layer (ONL) and ellipsoid zone (EZ) presence was assessed using spectral-domain optical coherence tomography (SD-OCT). Differences between compound heterozygous and homozygous patients were analyzed based on visual performance and visual development.

Results:

A total of 66 patients were included. The majority of patients had either light perception or no light perception. In the remaining group of 14 patients, median BCVA was 20/195 Snellen (0.99 LogMAR; range 0.12-1.90) for the right eye, and 20/148 Snellen (0.87 LogMAR; range 0.22-1.90) for the left. Homozygous patients tended to be more likely to develop light perception compared to more severely affected compound heterozygous patients (P = 0.080) and are more likely to improve from no light perception to light perception (P = 0.022) before the age of 6 years. OCT data were available in 12 patients, 11 of whom had retained foveal ONL and EZ integrity up to 48 years (median 23 years) of age.

Conclusions:

Homozygous patients seem less severely affected compared to their compound-heterozygous peers. Improvement of visual function may occur in the early years of life, suggesting a time window for therapeutic intervention up to the approximate age of 17 years. This period may be extended by an intact foveal ONL and EZ on OCT.

PMID:
30193310
DOI:
10.1167/iovs.18-24817
[Indexed for MEDLINE]

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