Utility of en-face imaging in diagnosis of occult macular dystrophy with RP1L1 mutation: A case series

Merry Zc Ruan; S Amal Hussnain; Amanda Thomas; Mahesh Mansukhani; Stephen Tsang; Lawrence Yannuzzi

doi:10.1016/j.ajoc.2019.100465

Utility of en-face imaging in diagnosis of occult macular dystrophy with RP1L1 mutation: A case series

Am J Ophthalmol Case Rep. 2019 May 9:15:100465. doi: 10.1016/j.ajoc.2019.100465. eCollection 2019 Sep.

Authors

Merry Zc Ruan¹, S Amal Hussnain^{1

2

3}, Amanda Thomas⁴, Mahesh Mansukhani⁴, Stephen Tsang^{1

4}, Lawrence Yannuzzi^{2

3}

Affiliations

¹ Department of Ophthalmology, Edward S Harkness Eye Institute, Columbia University College of Physicians and Surgeons, New York, NY, USA.
² Vitreous Retina Macula Consultants of New York, NY, USA.
³ Department of Ophthalmology, New York University School of Medicine, New York, NY, USA.
⁴ Department of Pathology and Cell Biology, Columbia University College of Physicians and Surgeons, New York, NY, USA.

Abstract

Purpose: To report en-face imaging findings at the level of ellipsoid zone (EZ) in two cases of occult macular dystrophy (OMD) with retinitis pigmentosa 1-like 1 (RP1L1) p.Arg45Trp mutation.

Observations: In both patients who presented with decreased vision, pupillary examination, intraocular pressure, and anterior examination were normal. Ophthalmoscopic examination showed prominent choroidal marking whereas fundus autofluorescence was unremarkable. Spectral domain optical coherence tomography (SD-OCT) showed subtle gaps between EZ and retinal pigment epithelium (RPE). The photoreceptor disruption became more evident with en-face imaging at the EZ plane.

Conclusions and importance: This is a report of two patients with EZ en-face imaging that aided in the diagnosis of OMD where other structural imaging was largely unremarkable. The en-face imaging modality can also be used to monitor OMD progression.

Keywords: Ellipsoid zone; En-face imaging; Occult macular dystrophy; RP1L1.

Publication types

Case Reports