Observation

Acetazolamide for Retinoschisis in Branchio-Oculo-Facial Syndrome

JAMA Ophthalmology 10.1001/jamaophthalmol.2026.4207

October 01, 2026 at 11:00 AM EDT

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This case report discusses a patient with branchio-oculo-facial syndrome and bilateral optic nerve coloboma, with progressive retinoschisis disproportionate to coloboma extent and showing marked improvement after oral acetazolamide.

Corresponding Author: Aude Ambresin, MD, PD, Swiss Visio Retina Research Center, Swiss Visio Montchoisi, Avenue du Servan 38, 1006 Lausanne, Switzerland (aambresin@swissvisio.net).

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