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Cohen syndrome (Q87.8;ORPHA:193; OMIM#216550) is an autosomal recessive inherited genetic disorder caused by mutation in the VPS13B/COH1 gene. It is characterized by variable clinical symptoms such as deformity of the head, face, hands and feet, eye abnormalities, abdominal obesity, neutropenia and nonprogressive intellectual disability. The typical lesions in the eyeball in Cohen syndrome include high myopia, retinal dystrophy, strabismus, maculopathy and lens subluxation. The present study describes the coexistence of bilateral macular edema with pale optic disc in a patient with a homozygous deletion in the VPS13B/COH1 gene.

The aim of the study is to present a case of a 9-year-old girl with mucocele of the frontal sinus penetrating into the anterior fossa of the skull and infiltrating the upper wall of the orbit and manifesting with upper eyelid swelling. On the basis of the clinical findings and additional imaging tests, the girl was diagnosed with mucocele of the frontal sinus. [ABSTRACT FROM AUTHOR]