Retinal cases & brief reports · 2024
CONGENITAL RETINAL MACROVESSEL AND CAVERNOUS HEMANGIOMA IN COWDEN SYNDROME: A CASE REPORT AND REVIEW OF LITERATURE.
СтатьяКлинический случайОбзорНазвание и аннотация: Перевод в очереди
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Cohen Devin C, Tsui Jonathan C, Scoles Drew
Аннотация
PURPOSE: To describe a case of unilateral congenital retinal macrovessel with a retinal cavernous hemangioma in a patient with Cowden syndrome (CS). In addition, we summarize previously reported cases of ocular findings in CS in the literature.
METHODS: Observational case report and literature review.
RESULTS: A 45-year-old White female patient with Cowden syndrome presented for routine ocular examination. She had a history of thyroid carcinoma, fallopian paratubal cyst, chromophobe-type renal cell carcinoma, multiple benign skin lesions, and macrocephaly. At presentation, she was asymptomatic with good vision. On dilated fundus examination, the right eye revealed a congenital retinal macrovessel and retinal cavernous hemangioma. Previously performed genetic testing revealed a pathogenic c.46dupT mutation in the PTEN gene, which was consistent with CS.
CONCLUSION: Our patient had a history of multiple malignancies and hamartomas consistent with her genetic diagnosis of CS. We incidentally discovered a congenital retinal macrovessel with a retinal cavernous hemangioma. Patients with CS should be referred for interdisciplinary evaluation, including routine ocular examinations.
METHODS: Observational case report and literature review.
RESULTS: A 45-year-old White female patient with Cowden syndrome presented for routine ocular examination. She had a history of thyroid carcinoma, fallopian paratubal cyst, chromophobe-type renal cell carcinoma, multiple benign skin lesions, and macrocephaly. At presentation, she was asymptomatic with good vision. On dilated fundus examination, the right eye revealed a congenital retinal macrovessel and retinal cavernous hemangioma. Previously performed genetic testing revealed a pathogenic c.46dupT mutation in the PTEN gene, which was consistent with CS.
CONCLUSION: Our patient had a history of multiple malignancies and hamartomas consistent with her genetic diagnosis of CS. We incidentally discovered a congenital retinal macrovessel with a retinal cavernous hemangioma. Patients with CS should be referred for interdisciplinary evaluation, including routine ocular examinations.