A surgical strategy for the correction of Fraser syndrome cryptophthalmos

Abstract

Purpose: To describe a systematic approach for managing the structural adnexal anomalies encountered in Fraser syndrome, a multisystem, autosomal recessive condition associated with cryptophthalmos.

Design: Retrospective, noncomparative, interventional case series.

Participants: All patients with Fraser syndrome-related cryptophthalmos managed at a Moorfields Eye Hospital during a 23-year period between 1984 and 2007.

Methods: All patients' clinical records were reviewed. The age of the patient at presentation, sex, ethnic origin, parental consanguinity, associated systemic features, length of follow-up, and surgical interventions were recorded.

Main outcome measures: The sequence of surgical procedures performed for the different morphologic cryptophthalmos subtypes, postoperative visual acuity, and corneal survival.

Results: The study includes 13 eyes of 7 patients. Cryptophthalmos was complete in 3 eyes and abortive in 10 eyes; no cases of incomplete cryptophthalmos were encountered in this series. The aim of surgical intervention in the latter was to optimize visual potential. Surgical steps included dissection of corneal adhesions from keratinized cornea, mucous membrane graft, Mustarde eyelid switch flap with subsequent division, and further lower lid augmentation as required (n = 10). For complete cryptophthalmos, surgery was recommended if cosmetic improvement was sought and enough tissue remained after any repair of abortive cryptophthalmos in the fellow eye. Surgery in these cases involved the creation of fornices, with subsequent upper and lower lid reconstruction with local skin/muscle flaps (n = 1). Postoperative acuities ranged from perception of light to 20/200. Good outcomes in terms of corneal health were achieved in 6 of the 10 eyes operated on for incomplete cryptophthalmos.

Conclusions: Although Fraser syndrome is rare, the periocular surgical management of these complex cases may be planned using a systematic approach as described in this study, which is the largest such series to date.

Financial disclosure(s): The author(s) have no proprietary or commercial interest in any materials discussed in this article.