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Invest Ophthalmol Vis Sci. 2017 Aug 1;58(10):3840-3850. doi: 10.1167/iovs.17-21597.

C2orf71 Mutations as a Frequent Cause of Autosomal-Recessive Retinitis Pigmentosa: Clinical Analysis and Presentation of 8 Novel Mutations.

Author information

1
Department of Ophthalmology, University Hospital Zurich, Zurich, Switzerland.
2
Institute of Medical Molecular Genetics, University of Zurich, Schlieren, Switzerland.
3
Department of Ophthalmology and Vision Sciences, The Hospital of Sick Children, Toronto, Canada.
4
Cole Eye Institute, Cleveland Clinic, Cleveland, United States.
5
Casey Eye Institute, Department of Ophthalmology, Oregon Health & Science University, Portland, Oregon, United States.
6
Casey Eye Institute, Department of Ophthalmology, Oregon Health & Science University, Portland, Oregon, United States 6King Fahd University Hospital, University of Dammam, Dammam, Saudi Arabia.
7
Bascom Palmer Eye Institute, Miami, United States.
8
University of Michigan Department of Ophthalmology and Visual Sciences, Ann Arbor, Michigan, United States.
9
Eye Clinic, Lucerne Cantonal Hospital, Lucerne, Switzerland.
10
Institute of Medical Genetics, University of Zurich, Schlieren, Switzerland.
11
Institute of Medical Molecular Genetics, University of Zurich, Schlieren, Switzerland 11Zurich Center for Integrative Human Physiology, University of Zurich, Zurich, Switzerland 12Neuroscience Center Zurich, University and ETH Zurich, Zurich, Switzerland.

Abstract

Purpose:

To define the phenotype of C2orf71 associated retinopathy and to present novel mutations in this gene.

Methods:

A retrospective multicenter study of patients with retinopathy and identified C2orf71 mutations was performed. Ocular function (visual acuity, visual fields, electroretinogram [ERG] responses); retinal morphology (fundus, optical coherence tomography); and underlying mutations were analyzed.

Results:

Thirteen patients from 11 families, who were aged 7 to 63 years (mean: 32.1 years) at their first examination with presumed compound heterozygous (6/13 patients) or homozygous (7/13 patients) C2orf71 mutations were identified. Eight of the mutations were novel. Truncation mutations were responsible in all cases. Nyctalopia was observed in less than 50% of patients. Visual acuity ranged from 20/20 to light perception. Severe visual loss was associated with atrophic maculopathy. Full-field ERG responses showed severe progressive cone-rod or rod-cone dysfunction. Typical fundus changes were progressive symmetrical retinopathy with an early mild maculopathy and patchy circular midperipheral RPE atrophy. Normal retinal lamination was preserved despite early disruption of the ellipsoid zone and RPE irregularities. Outer retinal tubulations were associated with better-preserved visual acuity.

Conclusions:

On the basis of our multicenter analysis, C2orf71 might represent a more frequently mutated gene in autosomal recessive retinitis pigmentosa in some populations. The phenotype analysis over a wide age range showed a variable and progressive retinal degeneration with early onset maculopathy and a better visual potential before the age of 30 years.

PMID:
28763557
DOI:
10.1167/iovs.17-21597
[Indexed for MEDLINE]
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