Girl presents with unilateral retinal lesion
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An 8-year-old healthy girl presented for evaluation of a retinal lesion in the right eye. On a recent routine dilated eye exam, she was found to have a white, elevated retinal mass. Her pediatric ophthalmologist was concerned for retinoblastoma. She had no change in vision and was asymptomatic. She was born full-term without complications. She had no ocular history or previous eye surgery or trauma. She did not take medications. Her mother and younger sister recently had normal eye exams, and she had no other known family history of eye disease. She had no neurologic symptoms. Visual acuities were 20/20 in both eyes. Pupils were symmetric and briskly reactive to light with no afferent pupillary defect. IOP was 7 mm Hg in the right eye and 8 mm Hg in the left eye. Confrontation visual fields were full in both eyes. Extraocular movements were full in both eyes, and the patient was orthophoric.

The anterior segment exam of both eyes was unremarkable. On dilated fundus exam, she had healthy optic nerves with small cup-to-disc ratios. She had no vitreous cells or opacities. In the right eye, there was a well-demarcated 5 mm by 5 mm, mostly amelanotic, gray elevated retinal mass superotemporal to the macula with overlying focal white opacities consistent with calcification. There were retinal pigment epithelium (RPE) hyperpigmentation and chorioretinal atrophy along the edge of the mass. There was no subretinal fluid and no additional masses in either eye. The retinal vasculature was normal. OCT of the lesion showed a homogenous intraretinal mass with moderate reflectivity, overlying calcification, retinal atrophy, and loss of both the retinal architecture and choriocapillaris. B-scan ultrasound of the right eye demonstrated a retinal lesion with high internal reflectivity and a thickness of 1.26 mm. The left eye was normal.

The differential also includes amelanotic choroidal melanoma and choroidal osteoma, which are see in older patients. Choroidal melanoma is localized to the choroid and has low to medium internal reflectivity on ultrasound. Choroidal osteoma is a highly calcified choroidal tumor often adjacent to the optic nerve with high internal reflectivity on B-scan ultrasound and characteristic shadowing. Our patient’s lesion did not resemble these neoplasms. Coats’ disease, persistent fetal vasculature and ocular toxocariasis can present as a unilateral white mass in a child but are less likely in a patient older than 5 years.

Given patient’s lack of family history and unilateral mass, the underlying mutation was thought to be sporadic. Although it was recommended, her parents elected to not have genetic testing yet. MRI of the brain was performed to evaluate for pineoblastoma. Imaging revealed a 1 mm by 1 mm T2 hyperintense cystic lesion in the pineal gland consistent with a pineal cyst. Neurosurgery reviewed these findings and thought the probability of a primitive neuroendocrine tumor was low. patient was reexamined 4 weeks later and had a stable exam. Her visits have been spaced out to every 6 months. Her visual acuities remain 20/20 in both eyes. Over a period of 2 years, the lesion has not grown in size, and there is no development of subretinal fluid. She has no new retinal masses in either eye.

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Dr. S●●●●i D●●●i
Dr. S●●●●i D●●●i Ophthalmology
Aug 20, 2020Like