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SCLERAL PITS IN CHOROIDEREMIA: Implications for Retinal Gene Therapy

Al-Qahtani, Abdullah, A., MD*,†; Ba-Ali, Shakoor, MD‡,§; Alabduljalil, Talal, MD, FRCSC*; Coyner, Aaron, S., BS*; Patel, Rachel, C., MD*; Weleber, Richard, G., MD*; Girach, Aniz, MD; Christensen, Søren, K., MD‡,§; Larsen, Michael, DMSc‡,§; Pennesi, Mark, E., MD, PhD*; Yang, Paul, MD, PhD*

doi: 10.1097/IAE.0000000000001957
Original Study: PDF Only

Purpose: We report a novel finding on spectral domain optical coherence tomography in patients with choroideremia, which we describe as scleral pits (SCPs).

Methods: Cross-sectional observational case series of 36 patients with choroideremia, who underwent ophthalmic examination and multimodal imaging, including optical coherence tomography of the macula. Optical coherence tomography images were reviewed for SCP, which were defined as discrete tracts of hyporeflectivity that traverse the sclera with or without the involvement of Bruch membrane, retinal pigment epithelium, and retina. Unpaired two-tailed t-test with Welch correction was used for statistical analysis.

Results: Of the 36 patients, 19 had SCP in at least one eye. Scleral pits were confined to areas of advanced chorioretinal degeneration and never involved the foveola. Type 1 SCP affected only the sclera, whereas Type 2 SCP also involved the Bruch membrane and the retinal pigment epithelium. Type 3 SCP additionally had a full-thickness retinal defect. Patients with SCP were significantly older (51 ± 2 vs. 33 ± 4 years; P < 0.05) and had lower best-corrected visual acuity (20/160 vs. 20/30 or 0.9 ± 0.2 vs. 0.2 ± 0.07 logarithm of the minimum angle of resolution; P < 0.05) than patients without SCP. Patients with SCP had a greater myopic refractive error compared with patients without SCP (−2.6 ± 0.5 vs. −0.3 ± 0.5D; P < 0.05), but there was no significant correlation between the number of SCPs with refraction. Short posterior ciliary arteries were observed to enter the eye through one Type 3 SCP.

Conclusion: Scleral pits are, to the best of our knowledge, a novel optical coherence tomography finding in advanced choroideremia that likely represents the abnormal juxtaposition of penetrating short posterior ciliary arteries with the retina.

Scleral pits are a novel optical coherence tomography finding associated with advanced choroideremia that likely represents the abnormal juxtaposition of residual short posterior ciliary arteries with the retina.

*Casey Eye Institute, Oregon Health & Science University, Portland, Oregon;

Department of Ophthalmology, College of Medicine, Imam Abdulrahman Bin Faisal University, Dammam, Saudi Arabia;

Department of Ophthalmology, Rigshospitalet, Glostrup, Denmark;

§Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark; and

NightstaRx Ltd, London, United Kingdom.

Reprint requests: Paul Yang, MD, PhD, Casey Eye Institute, Oregon Health & Science University, 3375 SW Terwilliger Boulevard, Portland, OR 97239; e-mail: yangp@ohsu.edu

Supported by National Institute of Health: 1K08 EY0231186-01 (M.E.P.); 1K08EY026650-01 (P.Y.); and P30 EY010572 (Casey Eye Institute), Research to Prevent Blindness: unrestricted departmental funding to Casey Eye Institute, Choroideremia Research Foundation, Danish Association of the Blind (S.K.C.), and Foundation Fighting Blindness: C-CL-0711-0534-OHSU01 (Casey Eye Institute); CD-NMT-0714-0648 (P.Y.); and CD-NMT-0914-0659 (M.E.P.).

This study was an investigator-initiated study conducted using data from patients who were part of a multicenter choroideremia natural history study sponsored by NightstaRx, Ltd (London, United Kingdom). A. Girach is an employee of NightstaRx, otherwise none of the other authors declare any competing interests or received any payment from NightstaRx for the development of this study or for manuscript preparation. R.G. Weleber serves on the scientific advisory board for Applied Genetic Technologies Corp (AGTC); and serves on the scientific advisory board for the Foundation Fighting Blindness (FFB) (these relationships have been reviewed and managed by Oregon Health and Science University); and received travel expenses from FFB and AGTC and other support from Sanofi, all outside the submitted work.

A. A. Al-Qahtani and S. Ba-Ali contributed equally as primary authors.

© 2018 by Ophthalmic Communications Society, Inc.