Scleral pits in choroideremia implications for retinal gene therapy

Abdullah A. Al-Qahtani, Shakoor Ba-Ali, Talal Alabduljalil, Aaron S. Coyner, Rachel C. Patel, Richard G. Weleber, Aniz Girach, Søren K. Christensen, Michael Larsen, Mark E. Pennesi, Paul Yang

Research output: Contribution to journalArticlepeer-review

5 Scopus citations


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 (22.6 ± 0.5 vs. 20.3 ± 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.

Original languageEnglish (US)
Pages (from-to)1725-1730
Number of pages6
Issue number9
StatePublished - 2018


  • CHM
  • Choroideremia
  • Scleral pits
  • Short posterior ciliary arteries

ASJC Scopus subject areas

  • Ophthalmology


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