Background: Choroidal osteoma, a rare benign intraocular tumor, occurs more frequently in young women and may cause vision loss if it develops in the macula. Although sister cases of this disease have been reported in the past, reports of parent-child cases are extremely rare. In this report, we describe a parent-child case of bilateral choroidal osteoma with decreased visual function.
Cases: Case 1 was a 43-year-old woman. She experienced decreased visual acuity of the left eye at the age of 23 years and had been followed up with a diagnosis of bilateral choroidal osteoma. At the age of 43 years, 7 days after the birth of her first girl, she experienced distorted vision in the right eye and was referred to our hospital. Her visual acuity was 0.9 and 0.05 in the right and left eyes, respectively. A well-defined, atrophic, yellowish-brown, and extensive residual scarring was observed around the optic nerve head in both eyes; in addition, a mild serous retinal detachment in the macula of the right eye was noted. In the left eye, the residual scarring extended to the macula. At the age of 50 years, she experienced choroidal neovascularization in the fovea of the right eye and received an intravitreal injection of an anti-vascular endothelial growth factor (VEGF) drug. Since then, she has been followed up.
Case 2 was a 6-year-old girl, the first daughter of the case 1. She was referred to our hospital because health checkup for first graders showed decreased visual acuity in the left eye and examination in a nearby hospital suggested choroidal osteoma. Her visual acuity was 1.2 in the right eye and 0.3 in the left eye. Yellowish-orange lesions with clear boundaries were present around the optic nerve head in both eyes, along with serous retinal detachment in the macula of the left eye. Similar to her mother, she was diagnosed with choroidal osteoma in both eyes according to the fundoscopy findings, optical coherence tomography, and ultrasound computer tomography. After an intravitreal injection of an anti-VEGF drug for treating the serous retinal detachment in the left eye, the amount of subretinal fluid partially decreased.
Conclusion: Parent-child cases of bilateral choroidal osteomas may occur; however, they are extremely rare.
Nippon Ganka Gakkai Zasshi (J Jpn Ophthalmol Soc) 128: 38-44,2024.