C2orf71 mutations as a frequent cause of autosomal-recessive retinitis pigmentosa

Clinical analysis and presentation of 8 novel mutations

Christina Gerth-Kahlert, Amit Tiwari, James V.M. Hanson, Vaishnavi Batmanabane, Elias Traboulsi, Mark Pennesi, Abdullah A. Al-Qahtani, Byron L. Lam, John Heckenlively, Sandrine A. Zweifel, Ajoy Vincent, Fabienne Fierz, Daniel Barthelmes, Kari Branham, Naheed Khan, Angela Bahr, Luzy Baehr, István Magyar, Samuel Koller, Silvia Azzarello-Burri & 3 others Dunja Niedrist, Elise Heon, Wolfgang Berger

Research output: Contribution to journalArticle

3 Citations (Scopus)

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.

Original languageEnglish (US)
Pages (from-to)3840-3850
Number of pages11
JournalInvestigative Ophthalmology and Visual Science
Volume58
Issue number10
DOIs
StatePublished - 2017

Fingerprint

Retinitis Pigmentosa
Mutation
Visual Acuity
Vertebrate Photoreceptor Cells
Night Blindness
Phenotype
Retinal Degeneration
Optical Coherence Tomography
Visual Fields
Genes
Multicenter Studies
Atrophy
Retrospective Studies
Light
Population

Keywords

  • C2orf71 gene
  • Outer retinal tabulation
  • Phenotype
  • Retinitis pigmentosa

ASJC Scopus subject areas

  • Ophthalmology
  • Sensory Systems
  • Cellular and Molecular Neuroscience

Cite this

C2orf71 mutations as a frequent cause of autosomal-recessive retinitis pigmentosa : Clinical analysis and presentation of 8 novel mutations. / Gerth-Kahlert, Christina; Tiwari, Amit; Hanson, James V.M.; Batmanabane, Vaishnavi; Traboulsi, Elias; Pennesi, Mark; Al-Qahtani, Abdullah A.; Lam, Byron L.; Heckenlively, John; Zweifel, Sandrine A.; Vincent, Ajoy; Fierz, Fabienne; Barthelmes, Daniel; Branham, Kari; Khan, Naheed; Bahr, Angela; Baehr, Luzy; Magyar, István; Koller, Samuel; Azzarello-Burri, Silvia; Niedrist, Dunja; Heon, Elise; Berger, Wolfgang.

In: Investigative Ophthalmology and Visual Science, Vol. 58, No. 10, 2017, p. 3840-3850.

Research output: Contribution to journalArticle

Gerth-Kahlert, C, Tiwari, A, Hanson, JVM, Batmanabane, V, Traboulsi, E, Pennesi, M, Al-Qahtani, AA, Lam, BL, Heckenlively, J, Zweifel, SA, Vincent, A, Fierz, F, Barthelmes, D, Branham, K, Khan, N, Bahr, A, Baehr, L, Magyar, I, Koller, S, Azzarello-Burri, S, Niedrist, D, Heon, E & Berger, W 2017, 'C2orf71 mutations as a frequent cause of autosomal-recessive retinitis pigmentosa: Clinical analysis and presentation of 8 novel mutations', Investigative Ophthalmology and Visual Science, vol. 58, no. 10, pp. 3840-3850. https://doi.org/10.1167/iovs.17-21597
Gerth-Kahlert, Christina ; Tiwari, Amit ; Hanson, James V.M. ; Batmanabane, Vaishnavi ; Traboulsi, Elias ; Pennesi, Mark ; Al-Qahtani, Abdullah A. ; Lam, Byron L. ; Heckenlively, John ; Zweifel, Sandrine A. ; Vincent, Ajoy ; Fierz, Fabienne ; Barthelmes, Daniel ; Branham, Kari ; Khan, Naheed ; Bahr, Angela ; Baehr, Luzy ; Magyar, István ; Koller, Samuel ; Azzarello-Burri, Silvia ; Niedrist, Dunja ; Heon, Elise ; Berger, Wolfgang. / C2orf71 mutations as a frequent cause of autosomal-recessive retinitis pigmentosa : Clinical analysis and presentation of 8 novel mutations. In: Investigative Ophthalmology and Visual Science. 2017 ; Vol. 58, No. 10. pp. 3840-3850.
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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.",
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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

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

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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