Congenital corneal staphyloma in 8q21.11 microdeletion syndrome

ABSTRACT

Background

Although 8q21.11 microdeletion syndrome (8q21.11 DS) has been reported in association with congenital corneal opacities, reports of the clinicopathological features and management are scarce.

Methods

We reviewed medical records including ophthalmic evaluations, imaging, operative reports, and pathology reports of two unrelated patients referred to the Ophthalmology Clinic of UPMC Children’s Hospital of Pittsburgh with a cytogenetic diagnosis of 8q21.11 DS.

Results

Ophthalmological evaluation of both children revealed bilateral enlarged, staphylomatous, and cloudy corneas with neovascularization. These findings were consistent with the diagnosis of congenital corneal staphyloma (CCS). In one patient, anterior segment optical coherence tomography and high-frequency ultrasound revealed materials consistent with lens remnants embedded in the cornea; this was confirmed by histopathology. In the second patient, lens was found to be adherent to the cornea during surgery. One eye underwent enucleation for corneal perforation secondary to elevated intraocular pressure. In the other eyes, treatment consisted of penetrating keratoplasty combined with vitrectomy. Ahmed tube was subsequently placed to control intraocular pressure.

Conclusion

8q21.11 microdeletion syndrome can be associated with bilateral CCS, likely related to a combination of anterior segment developmental anomalies and elevated intraocular pressure. Tectonic penetrating keratoplasty is necessary to prevent corneal perforation, together with a strict control of the intraocular pressure.

KEYWORDS:

• 8q21.11 microdeletion syndrome
• congenital corneal staphyloma
• congenital corneal opacity

Disclosure statement

No potential conflict of interest was reported by the author(s).

Statement of ethics

The study was conducted ethically in accordance with the World Medical Association Declaration of Helsinki. Written informed consent to participate in the study was obtained from participants (or their parent/legal guardian/next of kin). This study protocol was reviewed and approved by the University of Pittsburgh Institutional Review Board (approval number STUDY19040190).

Author contributions

K.K.N. and S.J. performed surgery; E.F, and H.L.S. collected the data; E.F. and C.T.C. generated the figures; K.K.N. and E.F. drafted the manuscript; K.K.N., E.F., H.L.S., and C.T.C. revised the manuscript; and all approved the final manuscript.

Data availability statement

The data that support the findings of this study are not publicly available because they contain information that could compromise the privacy of research participants but are available from K.K.N. upon reasonable request.

Additional information

Funding

The authors have no financial interests to disclose.