GAPO syndrome


GAPO syndrome is a rare genetic disorder. GAPO is an acronym for growth retardation, alopecia, pseudoanodontia (failure of tooth eruption), and progressive optic atrophy.


* Reduced birth length * Growth retardation * Absence of scalp hair * Non-erupting teeth * Protruding forehead


* Papilledema: Lasts seconds, bilateral * Amaurosis fugax: Lasts minutes, unilateral * Vertebrobasilar artery insufficiency: Lasts minutes, bilateral * Migraine: Lasts 10–60 minutes * Impending central retinal vein occlusion * Ocular ischemic syndrome (carotid occlusive disease) * Sudden change in blood pressure; orthostatic hypotension * Transient acute increase in intraocular pressure (e.g., acute angle closure glaucoma, retro- or peribulbar hemorrhage)


Treat underlying causes (e.g., brain tumor, carotid stenosis, cardiac valvular vegetations, hypotension) Temporal arteritis: Systemic steroids Nonarteritic ischemic optic neuropathy: Aspirin Optic neuritis: Systemic steroids Glaucoma: Topical antiglaucoma medications; peripheral iridotomy for angle closure Retinal detachment: Surgical repair Cataracts: Surgical removal AV fistula: Embolize Cavernous sinus thrombosis: Antibiotics, anticoagulation Mucormycosis: Amphotericin B, debridement Pituitary apoplexy: Systemic steroids, neurosurgical intervention Herpes zoster: Systemic acyclovir Tolosa-Hunt: Systemic steroid