Abstract
Background: To describe the clinical characteristics of two sets of sisters in two families with bilateral choroidal. Methods: The ocular clinical examinations of all the families were performed. Results: (1) Thirteen immediate family members from three generations were included and screened in two families. Bilateral choroidal osteoma was found in two sets of two sisters in the second generation of both families. (2) All of the four patients were young women aged 22 years, 26 years, 26 years and 30 years respectively. (3) Choroidal osteoma lesions located at the posterior to the optic disc and showed a relatively large area. Fundus findings, fluorescein angiography and computed tomography scan results showed typical characteristics of choroidal osteoma. Conclusions: This is the first report of such cases in China. The clinical characteristics of bilateral choroidal osteoma are a larger lesion around the optic disc and early onset. Eyesight of the patient is damaged with the time lapse.
Highlights
Choroidal osteoma is a rare and benign tumor located in the choroid, which has a basic pathological tissue structure of mature bone tissue
Choroidal osteoma was officially named by Gass in 1978
Previous pedigree case reports suggested that choroidal osteoma showed a genetic predisposition and when it ran in families, it was often bilateral, and the disease was observed to span between mother and daughter, father and daughters, siblings and twins [2,3,4,5,6]
Summary
The ocular clinical examinations of all the families were performed. Results: (1) Thirteen immediate family members from three generations were included and screened in two families. Bilateral choroidal osteoma was found in two sets of two sisters in the second generation of both families. (2) All of the four patients were young women aged 22 years, 26 years, 26 years and 30 years respectively. (3) Choroidal osteoma lesions located at the posterior to the optic disc and showed a relatively large area. Fluorescein angiography and computed tomography scan results showed typical characteristics of choroidal osteoma
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