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EYS-Associated Sector Retinitis Pigmentosa

Abstract

Purpose

Sector retinitis pigmentosa (RP) is a rare form of rod-cone degeneration typically associated with mutations in the RHO gene. We describe six unrelated patients presenting with this atypical phenotype in association with biallelic mutations in EYS gene.

Methods

Multinational, multicentre cross-sectional case series. Patients with biallelic disease-causing variants in EYS and a clinical diagnosis of sector RP were recruited from specialized centres in Portugal and Brazil. All patients underwent a comprehensive ophthalmologic examination complemented by deep phenotyping. Peripheral blood samples were collected from all probands and available relatives for genetic analysis. Genetic counselling was provided to all subjects.

Results

Seven disease-causing variants (4 pathogenic; 3 likely pathogenic) were identified in 6 unrelated female patients. Best-corrected visual acuity ranged from 75 to 85 ETDRS letters. All eyes showed bilateral and symmetrical areas of outer retinal atrophy distributed along the inferior vascular arcades and extending temporally and/or nasally in a crescent-shaped pattern. On fundus autofluorescence (AF), a foveal-sparing curvilinear band of hyperAF encroaching the optic nerve head and extending temporally was seen in 4 patients. The remaining 2 presented bilateral and symmetrical patches of hypoAF inside crescent-shaped areas of hyperAF along the inferior temporal vascular arcade. Visual field testing revealed superior visual field defects of varying extents, always in close association with the fundus AF findings.

Conclusions

Even though EYS has only recently been listed as a cause of the sector RP phenotype, we believe that this presentation is not infrequent and should be considered an important differential for sector RP.

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Correspondence to João Pedro Marques.

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All procedures performed in studies involving human participants were in accordance with the ethical standards of the HREC of Centro Hospitalar e Universitário de Coimbra (CHUC) and with the 1964 Helsinki declaration and its later amendments or comparable ethical standards.

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Informed consent was obtained from all individual participants included in the study.

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The authors declare no competing interests.

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Supplementary Fig. 1

Full-field electroretinogram (ffERG) of Patients 4, 5 and 6. On patients 4 and 5, bilateral marginally recordable scotopic and photopic responses were recorded. Patient 6 presented a subnormal scotopic and photopic ffERG. (PNG 1308 kb)

High resolution image (TIFF 7664 kb)

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Marques, J.P., Porto, F.B.O., Carvalho, A.L. et al. EYS-Associated Sector Retinitis Pigmentosa. Graefes Arch Clin Exp Ophthalmol (2021). https://doi.org/10.1007/s00417-021-05411-w

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Keywords

  • Retinitis pigmentosa
  • EYS
  • Ophthalmic genetics
  • Inherited retinal dystrophies
  • Genotype–phenotype correlations