A novel ophthalmic presentation of the Proteus syndrome.

PURPOSE: To report a patient with the Proteus syndrome who had ocular complications not previously described in the literature.

DESIGN

Single observational case report.

METHODS

Retrospective review of the medical record and review of the literature.

RESULTS

The 26-year-old man has systemic features fulfilling the diagnostic criteria for the Proteus syndrome. His ocular abnormalities are myopia, mild calcific band keratopathy, cataract, abnormal vitreous structure, vitreous hemorrhage, a large chorioretinal mass, and a resolved serous retinal detachment.

CONCLUSIONS

Ocular complications are frequently reported in patients with the Proteus syndrome. Few of the patients reported in the literature have had comprehensive ocular examination by an ophthalmologist. Our patient is unique because he has been examined by ophthalmologists from childhood, and it is clear that the ocular findings may change with time. As far as we are aware, calcific band keratopathy, abnormal vitreous structure, and chorioretinal hamartoma associated with serous retinal detachment and vitreous hemorrhage have not previously been described.