June 2017
Volume 58, Issue 8
Open Access
ARVO Annual Meeting Abstract  |   June 2017
Genotype-phenotype correlations in patients with Usher syndrome type 2 harboring mutations in USH2A and ADGRV1
Author Affiliations & Notes
  • Marko Hawlina
    Eye Hospital, University Medical Centre Ljubljana, Ljubljana, Slovenia
  • Ana Fakin
    Eye Hospital, University Medical Centre Ljubljana, Ljubljana, Slovenia
  • Crystel Bonnet
    Institut de la Vision, UMRS 1120 INSERM/UPMC, Paris, France
  • Anne Kurtenbach
    Centre for Ophthalmology, Institute for Ophthalmic Research, University of Tuebingen, Tuebingen, Germany
  • Saddek Mohand-Said
    Institut de la Vision, UMRS 1120 INSERM/UPMC, Paris, France
    Centre d'Investigation Clinique, Direction de l'Hospitalisation et de l'Organisation des Soins, Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts, Paris, France
  • Ditta Zobor
    Centre for Ophthalmology, Institute for Ophthalmic Research, University of Tuebingen, Tuebingen, Germany
  • Martina Jarc-Vidmar
    Eye Hospital, University Medical Centre Ljubljana, Ljubljana, Slovenia
  • Katarina Stingl
    Centre for Ophthalmology, Institute for Ophthalmic Research, University of Tuebingen, Tuebingen, Germany
  • Francesco Testa
    Eye Clinic, Multidisciplinary Department of Medical, Surgical and Dental Sciences Second University of Naples, Naples, Italy
  • Francesca Simonelli
    Eye Clinic, Multidisciplinary Department of Medical, Surgical and Dental Sciences Second University of Naples, Naples, Italy
  • José Alain sahel
    Institut de la Vision, UMRS 1120 INSERM/UPMC, Paris, France
    Centre d'Investigation Clinique, Direction de l'Hospitalisation et de l'Organisation des Soins, Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts, Paris, France
  • Isabelle S Audo
    Institut de la Vision, UMRS 1120 INSERM/UPMC, Paris, France
    Centre d'Investigation Clinique, Direction de l'Hospitalisation et de l'Organisation des Soins, Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts, Paris, France
  • Eberhart Zrenner
    Centre for Ophthalmology, Institute for Ophthalmic Research, University of Tuebingen, Tuebingen, Germany
  • Christine Petit
    Institut de la Vision, UMRS 1120 INSERM/UPMC, Paris, France
    Institut Pasteur, Collège de France, Paris, France
  • Footnotes
    Commercial Relationships   Marko Hawlina, None; Ana Fakin, None; Crystel Bonnet, None; Anne Kurtenbach, None; Saddek Mohand-Said, None; Ditta Zobor, None; Martina Jarc-Vidmar, None; Katarina Stingl, None; Francesco Testa, None; Francesca Simonelli, None; José Alain sahel, None; Isabelle Audo, None; Eberhart Zrenner, Acucela Inc. (F), NightstaRx Ltd. (F), QLT, Inc. (F), ReNeuron Group Plc/Ora Inc. (C), Retina Implant AG (F), Retina Implant AG (I), Retina Implant AG (C), Retina Implant AG (P), Retina Implant AG (R), Retina Implant AG (S), Shire (C); Christine Petit, None
  • Footnotes
    Support  TREATRUSH (HEALTH-F2-2010-242013)
Investigative Ophthalmology & Visual Science June 2017, Vol.58, 3227. doi:
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      Marko Hawlina, Ana Fakin, Crystel Bonnet, Anne Kurtenbach, Saddek Mohand-Said, Ditta Zobor, Martina Jarc-Vidmar, Katarina Stingl, Francesco Testa, Francesca Simonelli, José Alain sahel, Isabelle S Audo, Eberhart Zrenner, Christine Petit; Genotype-phenotype correlations in patients with Usher syndrome type 2 harboring mutations in USH2A and ADGRV1. Invest. Ophthalmol. Vis. Sci. 2017;58(8):3227.

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      © ARVO (1962-2015); The Authors (2016-present)

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Abstract

Purpose : Mutations in USH2A are the most common cause of syndromic and non-syndromic retinitis pigmentosa (RP). Mutations in ADGRV1 (GPR98) are an infrequent cause of syndromic RP and the clinical presentation is less well known. The purpose of the study was to compare disease severity in a cohort of patients harboring mutations in USH2A and ADGRV1.

Methods : Study included patients with Usher syndrome type 2 and biallelic mutations in USH2A (N=188, median age 45 years) or ADGRV1 (N=17, median age 54 years). The onset of nyctalopia was determined from the hospital records. The degree of macular involvement was evaluated in 109 patients using fundus autofluorescence (FAF) and optical coherence tomography (OCT). The right eye was studied except where poor image quality precluded measurements. The diameter of the hyperautofluorescent ring was measured on FAF if present, or considered zero if there was central hyperautofluorescent patch or atrophy. The central retinal thickness (CRT) of 1 mm radius was measured on the OCT scan.

Results : The median age of onset of USH2A and ADGRV1 patients was 18 vs. 30 years (p>0.05, Mann Whitney U test). FAF patterns were qualitatively similar among the two groups. When adjusted for age, there was no significant difference in ring diameter, while ADGRV1 patients had significantly higher CRT (Multiple regression a analysis, p<0.001). Those USH2A patients with at least one missense variant (84/188) had significantly later median onset than those without (20 vs. 15 years, respectively; Mann Whitney U test, p<0.005). There was no significant difference in ring diameter or CRT among the two subgroups, when adjusted for age (Multiple regression analysis, p>0.05).

Conclusions : Results indicate milder retinal disease in Usher type 2 patients harboring ADGRV1 mutations although significance was reached only for CRT. Syndromic USH2A patients with missense variants were more likely to have a later disease onset than those with other variants however the degree of macular involvement determined objectively did not differ significantly.

This is an abstract that was submitted for the 2017 ARVO Annual Meeting, held in Baltimore, MD, May 7-11, 2017.

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