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EYS-Associated Sector Retinitis Pigmentosa.

João Pedro Marques1,2,3,4, Fernanda Belga Ottoni Porto5,6,7, Ana Luísa Carvalho8,9,10

  • 1Ophthalmology Unit, Centro Hospitalar e Universitário de Coimbra (CHUC), Coimbra, Portugal. marquesjoaopedro@gmail.com.

Graefe'S Archive for Clinical and Experimental Ophthalmology = Albrecht Von Graefes Archiv Fur Klinische Und Experimentelle Ophthalmologie
|September 27, 2021
PubMed
Summary

Mutations in the EYS gene are identified as a cause of sector retinitis pigmentosa (RP), a rare form of rod-cone degeneration. This finding suggests EYS gene mutations should be considered in the differential diagnosis of sector RP.

Keywords:
EYSGenotype–phenotype correlationsInherited retinal dystrophiesOphthalmic geneticsRetinitis pigmentosa

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Area of Science:

  • Ophthalmology
  • Genetics
  • Retinal Diseases

Background:

  • Sector retinitis pigmentosa (RP) is a rare rod-cone degeneration.
  • RP is typically linked to mutations in the RHO gene.

Purpose of the Study:

  • To investigate the association between EYS gene mutations and sector RP.
  • To describe the clinical and genetic findings in patients with sector RP due to EYS mutations.

Main Methods:

  • A multinational, multicentre cross-sectional case series.
  • Recruitment of patients with biallelic EYS variants and sector RP.
  • Comprehensive ophthalmologic examination, deep phenotyping, and genetic analysis.

Main Results:

  • Seven EYS variants (4 pathogenic, 3 likely pathogenic) were identified in 6 unrelated female patients.
  • All patients exhibited bilateral, symmetrical outer retinal atrophy along inferior vascular arcades.
  • Fundus autofluorescence showed distinct patterns of hyper/hypoautofluorescence, correlating with superior visual field defects.

Conclusions:

  • EYS gene mutations are an important cause of sector RP.
  • This presentation, though recently identified, is likely not infrequent.
  • EYS gene mutations should be considered in the differential diagnosis of sector RP.