TY - JOUR
T1 - C2orf71 mutations as a frequent cause of autosomal-recessive retinitis pigmentosa
T2 - Clinical analysis and presentation of 8 novel mutations
AU - Gerth-Kahlert, Christina
AU - Tiwari, Amit
AU - Hanson, James V.M.
AU - Batmanabane, Vaishnavi
AU - Traboulsi, Elias
AU - Pennesi, Mark E.
AU - Al-Qahtani, Abdullah A.
AU - Lam, Byron L.
AU - Heckenlively, John
AU - Zweifel, Sandrine A.
AU - Vincent, Ajoy
AU - Fierz, Fabienne
AU - Barthelmes, Daniel
AU - Branham, Kari
AU - Khan, Naheed
AU - Bahr, Angela
AU - Baehr, Luzy
AU - Magyar, István
AU - Koller, Samuel
AU - Azzarello-Burri, Silvia
AU - Niedrist, Dunja
AU - Heon, Elise
AU - Berger, Wolfgang
N1 - Publisher Copyright:
© 2017 The Authors.
PY - 2017
Y1 - 2017
N2 - 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.
AB - 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.
KW - C2orf71 gene
KW - Outer retinal tabulation
KW - Phenotype
KW - Retinitis pigmentosa
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U2 - 10.1167/iovs.17-21597
DO - 10.1167/iovs.17-21597
M3 - Article
C2 - 28763557
AN - SCOPUS:85026722242
SN - 0146-0404
VL - 58
SP - 3840
EP - 3850
JO - Investigative Ophthalmology and Visual Science
JF - Investigative Ophthalmology and Visual Science
IS - 10
ER -