Growth retardation alopecia pseudoanodontia optic
Overview
A rare condition characterized by retarded growth, alopecia, otpic atrophy and failure of teeth to erupt.
Symptoms
* Reduced birth length * Growth retardation * Absence of scalp hair * Non-erupting teeth * Protruding forehead * Underdeveloped mid-face * Optic atrophy * Funnel chest * Umbilical hernia * Reduced hormone production by testes * Reduced hormone production by ovaries * Polycystic kidney * Glaucoma * Retarded bone age
Causes
* 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) * Vision loss >24 hours: Sudden, painless Retinal artery or vein occlusion * Ischemic optic neuropathy (must rule out giant cell/temporal arteritis to prevent permanent bilateral vision loss) * Vitreous or aqueous hemorrhage (hyphema) * Retinal detachment * Other retinal or CNS disease (e.g., cortical blindness due to occipital lobe CVA) * Exposure (“Welder's flash”) or prolonged exposure to intense sunlight
Treatment
* 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 * Keratoconus/corneal hydrops: Cycloplegic, hypertonic (5%) NaCl ointment, corneal transplant