H syndrome with bilateral choroidal osteoma: Coincidence or association?

Abstract

Purpose: To report a case with bilateral corneal arcus and bilateral choroidal osteoma associated with H syndrome.

Methods: Descriptive case report.

Results: A 16-year-old girl with H syndrome was followed up in the pediatric nephrology clinic for chronic renal failure and was consulted to the ophthalmology clinic. She had low vision for more than 5 years. Slit lamp examination revealed bilateral corneal arcus . Lens and iris were normal. Axial length was 19.99 mm in the right eye and 21.85 mm in the left eye. A bilateral orange-yellow plaque was noted in the posterior pole in the funduscopic examination. Fundus autofluorescence (FAF) showed a bilateral diffuse macular hipoautofluorescence area in correspondence with the decalcified portion of the mass. Optical coherence tomography (OCT) showed a bilateral choroidal mass with a dome-shaped pushing effect on the overlying retina and damage to the outer layers of the retina. Fluorescein angiography (FA) with bilateral patchy diffuse late hyperfluorescence and B scan ultrasonography showed a bilateral solid highly reflective choroidal mass with acoustic shadowing. Orbital computerized tomography (CT) scans showed bilateral hyperdense plaques in the posterior pole. A diagnosis of choroidal osteomas was made for both eyes.

Conclusions: This report presents a case with bilateral corneal arcus and bilateral choroidal osteoma associated with H syndrome that has not been previously reported in the literature. Patients diagnosed with this syndrome should undergo routine eye examination, and due to the progressive nature of histiocytosis, they should also be followed closely ophthalmologically.