Corneal stromal deposits in connective tissue disease, a case series

Momoko K Ponsetto; Abdelrahman M Elhusseiny; James Kwan; Hajirah N Saeed

doi:10.1016/j.ajoc.2022.101264

Corneal stromal deposits in connective tissue disease, a case series

Am J Ophthalmol Case Rep. 2022 Jan 26:25:101264. doi: 10.1016/j.ajoc.2022.101264. eCollection 2022 Mar.

Authors

Momoko K Ponsetto¹, Abdelrahman M Elhusseiny^{1

2

3}, James Kwan¹, Hajirah N Saeed^{1

2}

Affiliations

¹ Department of Ophthalmology, Massachusetts Eye and Ear Infirmary, Harvard Medical School, Boston, MA, USA.
² Department of Ophthalmology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
³ Jones Eye Institute, University of Arkansas for Medical Sciences, Little rock, AR, 72205.

Abstract

Purpose: We report two cases of refractile, peripheral, corneal stromal deposition in two patients with arterial tortuosity syndrome (ATS) and Ehlers-Danlos syndrome (EDS), two closely related connective tissue diseases (CTDs).

Observations: Patient 1: A 21-year-old man with history of ATS and keratoectasia presented with bilateral peripheral corneal neovascularization with numerous whitish brown, refractile, deep stromal opacities that were circumferential along the inferotemporal cornea. After 3 years of follow-up, the corneal deposits did not progress, but the ectasia did, with significant bilateral corneal steepening and thinning for which the patient was recommended to undergo repeat corneal collagen cross linking. Patient 2: A 26-year-old man with presumed diagnosis of EDS presented with numerous whitish brown, refractile, deep stromal opacities that were circumferential along the temporal cornea in the right eye, and superiorly in the left eye. The left eye had a pseudopterygium involving 50% of the cornea. After 2 years of follow-up, the corneal opacities did not progress; however, the patient underwent primary excision of the pseudopterygium and subsequently had conjunctivalization of the entire cornea. The lesions in both cases resembled those seen in Terrien's marginal degeneration.

Conclusions and importance: Peripheral corneal stromal deposits have never been reported before in EDS or ATS or other connective tissue diseases. This case series may prompt further inquiry and characterization of these findings in patients with CTDs.

Keywords: Arterial tortuosity syndrome; Case report; Collagen vascular disease; Connective tissue disease; Ectasia; Ehlers Danlos syndrome; Pseudopterygium; Stromal deposits; Terrien's marginal degeneration.

Publication types

Case Reports