A Rare Case Report On Van Der Hoeve Syndrome

A 15-year old boy presented with diminution of vision and bluish discoloration of the sclera B/E for 1 month associated with progressive hearing loss for 6 months. There was history of frequent fractures in the past. Examination showed markedly blue sclera while examination of cornea, iris, lens, angle of anterior chamber, vitreous and retina were WNL. Vision was 6/18 OD, 6/12 OS and 6/6, N6 both eyes after correction. PTA detected moderately severe mixed hearing loss in left ear and CT Scan showed decreased mineralisation in left cochlea and vestibule. His BMD was diminished. The patient was managed conservatively with topical artificial tear substitute, NSAIDS along with oral bisphosphonates and Calcium supplements. Refractive glasses were prescribed. Primary Fenestration Stapedectomy L/E was done; the post-operative period was uneventful. During follow up, patient showed normal IOP, improved hearing levels and enhanced BMD.