New retinal findings in cherubism.

Area of Science:

• Ophthalmology
• Genetics
• Retinal Imaging

Background:

• Cherubism is a rare genetic disorder characterized by excessive bone development in the face.
• Ocular manifestations of cherubism are not well-documented, with limited reports on retinal involvement.

Purpose of the Study:

• To document and describe three previously unreported retinal findings in a patient diagnosed with cherubism.
• To expand the understanding of the spectrum of ocular abnormalities associated with cherubism.

Main Methods:

• A case report of an 18-year-old male patient with cherubism.
• Comprehensive ophthalmic examination including high-resolution imaging with spectral domain optical coherence tomography (SD-OCT).

Main Results:

• SD-OCT revealed distinct inner retinal striae in the posterior pole of both eyes.
• A subfoveal vitelliform deposit was observed in the left eye.
• An inferior retinoschisis was also identified in the left eye.

Conclusions:

• The identified retinal findings (inner retinal striae, subfoveal vitelliform deposit, and retinoschisis) represent new additions to the ocular manifestations of cherubism.
• These findings broaden the spectrum of retinal changes associated with this genetic disorder, emphasizing the need for thorough ophthalmological evaluation in affected individuals.