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.
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.
Authors: Zoran S Gucev; Velibor Tasic; Aleksandra Jancevska; Marina Krstevska Konstantinova; Nada Pop-Jordanova; Zoran Trajkovski; Leslie G Biesecker Journal: Am J Med Genet A Date: 2008-10-15 Impact factor: 2.802
Authors: Caterina Sellitto; Leping Li; Junyuan Gao; Michael L Robinson; Richard Z Lin; Richard T Mathias; Thomas W White Journal: J Clin Invest Date: 2013-11-25 Impact factor: 14.808
Authors: Oliver R Marmoy; Veronica A Kinsler; Robert H Henderson; Sian E Handley; Will Moore; Dorothy A Thompson Journal: Doc Ophthalmol Date: 2020-07-02 Impact factor: 2.379