July 2019
Volume 60, Issue 9
Open Access
ARVO Annual Meeting Abstract  |   July 2019
Multimodal imaging and electroretinography analysis of end-stage presentations of X-linked retinoschisis
Author Affiliations & Notes
  • Jesse D Sengillo
    Department of Medicine, Reading Hospital of Tower Health, West Reading, Pennsylvania, United States
    Jonas Children's Vision Care, Columbia University, New York, New York, United States
  • Winston Lee
    Jonas Children's Vision Care, Columbia University, New York, New York, United States
  • Ruben Jauregui
    Jonas Children's Vision Care, Columbia University, New York, New York, United States
  • Stephen H Tsang
    Jonas Children's Vision Care, Columbia University, New York, New York, United States
    Department of Ophthalmology, Columbia University, New York, New York, United States
  • Footnotes
    Commercial Relationships   Jesse Sengillo, None; Winston Lee, None; Ruben Jauregui, None; Stephen Tsang, None
  • Footnotes
    Support  National Institute of Health [R24EY027285, 5P30EY019007, R01EY018213, R01EY024698, R01EY026682, R21AG050437], National Cancer Institute Core [5P30CA013696], New York State [SDHDOH01-C32590GG-3450000 ], the Foundation Fighting Blindness New York Regional Research Center Grant [C-NY05-0705-0312], Nancy & Kobi Karp, the Crowley Family Funds, The Rosenbaum Family Foundation, the Gebroe Family Foundation, the Research to Prevent Blindness (RPB)
Investigative Ophthalmology & Visual Science July 2019, Vol.60, 5422. doi:https://doi.org/
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      Jesse D Sengillo, Winston Lee, Ruben Jauregui, Stephen H Tsang; Multimodal imaging and electroretinography analysis of end-stage presentations of X-linked retinoschisis. Invest. Ophthalmol. Vis. Sci. 2019;60(9):5422. doi: https://doi.org/.

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

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Abstract

Purpose : Patients with X-linked retinoschisis (XLRS) presenting at end-stage of disease are difficult to diagnose when severe macular atrophy is present without intraretinal fluid. The purpose of this study is to characterize late presentations of XLRS with retinal imaging and electrophysiology in patients without pathognomonic fundus exam or OCT findings.

Methods : Three unrelated male patients presented by referral to the Harkness Eye Institute electrophysiology clinic for evaluation of severe retinal degenerations of unknown etiology. Ocular exam findings, SD-OCT, fundus autofluorescence (FAF), full-field electroretinography (ffERG), and genetic testing results were retrospectively reviewed.

Results : All three patients (average age, 62; range, 58-70) described chronic, progressive bilateral vision loss and exhibited decreased visual acuity and central macular atrophy in both eyes on exam. In each patient (6 eyes), SD-OCT confirmed marked atrophy affecting all retinal layers with no evidence of cystoid changes. FAF imaging revealed a hyperautofluorescent ring between the vascular arcades of all eyes, containing an inner region of heterogenous signal and confluent patches of hypoautofluorescence consistent with loss of retinal pigment epithelium. Disease severity and FAF/OCT phenotype was symmetric between eyes of all patients. FfERGs were performed in two patients and both showed decreased scotopic b-wave and photopic 30 Hz-flicker amplitudes, with electronegative maximum scotopic responses. RS1 mutations were identified in each patient: c.286T>C, (p.Trp96Arg), c.416delA (p.Gln139Argfs*10), and c.445A>C (p.Thr149Pro) respectively, confirming the diagnosis of XLRS.

Conclusions : Patients with undiagnosed late-stage XLRS may present with profound macular atrophy but without the classic ‘spoke-wheel’ appearance of the fundus or characteristic foveal schisis, thus delaying accurate diagnosis. Patients suspected to have an inherited retinal dystrophy that exhibit severe macular degeneration and electronegative responses on ffERG may warrant screening with candidate RS1 gene testing as a first diagnostic step.

This abstract was presented at the 2019 ARVO Annual Meeting, held in Vancouver, Canada, April 28 - May 2, 2019.

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