EYS-Associated Sector Retinitis Pigmentosa.
Marques João Pedro, Porto Fernanda Belga Ottoni, Carvalho Ana Luísa, Neves Emmanuel, Chen Rui, Sampaio Shirley Aparecida Madureira, Murta Joaquim, Saraiva Jorge, Silva Rufino
AI Summary
This study found EYS gene mutations cause sector retinitis pigmentosa, presenting with specific retinal atrophy patterns. This highlights EYS as an important differential diagnosis for sector RP.
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.
MeSH Terms
Shields Classification
Key Concepts6
Biallelic mutations in the EYS gene were found in 6 unrelated female patients presenting with sector retinitis pigmentosa (RP).
Best-corrected visual acuity in 6 unrelated female patients with EYS-associated sector retinitis pigmentosa ranged from 75 to 85 ETDRS letters.
All eyes of 6 unrelated female patients with EYS-associated sector retinitis pigmentosa 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 out of 6 patients with EYS-associated sector retinitis pigmentosa.
Superior visual field defects of varying extents, always in close association with the fundus AF findings, were revealed by visual field testing in 6 unrelated female patients with EYS-associated sector retinitis pigmentosa.
Sector retinitis pigmentosa (RP) is a rare form of rod-cone degeneration typically associated with mutations in the RHO gene.
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