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JAMA Ophthalmology Clinical Challenge
April 2013

Woman With Sudden Loss of Vision—Diagnosis

Author Affiliations
 

SECTION EDITOR: BENNY H. JENG, MD

JAMA Ophthalmol. 2013;131(4):531-532. doi:10.1001/jamaophthalmol.2013.304b

Homocystinuria

D. Concurrent laboratory studies checking rapid plasmin reagin, fluorescent treponemal antibody absorption, and serum homocysteine levels

On the day of presentation, laboratory studies were drawn for rapid plasmin reagin, fluorescent treponemal antibody absorption, and serum homocysteine. Pars plana lensectomy/vitrectomy was performed on the patient's right eye without complication. The patient experienced a normal postoperative course, with final right eye best-corrected visual acuity of 20/25. The laboratory examination results were negative for rapid plasmin reagin and fluorescent treponemal antibody absorption. The serum homocysteine level was elevated at 47.4 μmol/L (reference range, 5.4-11.9 μmol/L). A clinical diagnosis of homocystinuria was made, and the patient began treatment with oral pyridoxine phosphate, 200 mg/d. She was referred to her primary care physician for follow-up of her homocysteine level.

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