A CASE OF SEPTO-OPTIC DYSPLASIA IN A TEN YEAR OLD MALE

Title A CASE OF SEPTO-OPTIC DYSPLASIA IN A TEN YEAR OLD MALE
Author, Co-Author Kathryn Gray, Tiffenie Harris, Don Lyon
Topic
Year
2006
Day
Program Number
065046
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Affiliation
Abstract BACKGROUND: Septo-optic dysplasia (SOD), also known as DeMorsier's syndrome, is a congenital malformation characterized by optic nerve hypoplasia (ONH), absence of the septum pellucidum, and often pituitary hormone deficiencies. ONH is a congenital disc anomaly in which the nerve is half the size of normal due to a subnormal number of NFL axons. The nerve typically presents bilaterally (60%) as a small nerve with crowded vessels and a pale peripapillary halo or "double ring sign." SOD manifests as visual impairment with developmental and growth delays secondary to endocrine dysfunction. Presentation ranges from mild to severe visual and physical symptoms. Referral for evaluation of endocrine function and neurologic development is appropriate.

CASE REPORT(S): A 10 year old male presented for a routine eye exam with a complaint of blurred vision since he lost his glasses. He had a history of strabismus with amblyopia OS and a hearing aid in his left ear. Best corrected vision was 20/25 OD, 20/200 OS. Cover test revealed a moderate constant left exotropia. Screening visual fields showed field loss OS which was greatest superiorly. Dilated fundus exam was significant OS demonstrating a classic "double ring sign" of the optic nerve with a C/D of .05 and vessel tortuosity. OCT confirmed significantly reduced NFL and optic nerve area OS. The patient was diagnosed with optic nerve hypoplasia OS. An MRI was ordered and the results revealed absence of the septum pellucidum and optic nerve atrophy OS. The patient was prescribed glasses with polycarbonate lenses for full-time wear, and referred to the pediatrician for further evaluation, including assessment of endocrine function.

CONCLUSIONS: The reduced vision OS was determined to be a combination of ONH associated with SOD and history of strabismus. Appropriate management begins with proper diagnosis of SOD as well as recognizing the associated systemic abnormalities for patient education and medical intervention as needed.
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