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JAMA Ophthalmology Clinical Challenge
January 2019

Bilateral Optic Atrophy in an Adolescent Male Patient

Author Affiliations
  • 1Department of Neuro-ophthalmology, Aravind Eye Care, Pondicherry, India
JAMA Ophthalmol. 2019;137(1):101-102. doi:10.1001/jamaophthalmol.2018.2594

A boy in his late teens with short stature presented with gradual loss of vision in both eyes since 8 years of age. He received a diagnosis of type 1 diabetes at 10 years of age and has been taking insulin since the diagnosis. He had consulted several physicians for hearing loss during the past 2 years. He had received multiple courses of antibiotics for frequent urinary tract infections. The results of a systemic examination revealed hypochondroplasia, alopecia (Figure 1), and generalized hypotonia. His best-corrected visual acuity was 6/60 OU. Bjerrum tangent screen visual field analysis showed preservation of central 10 degrees of fields. His color vision was defective, and his pupils were slow reactive to light. The results of an optic nerve examination revealed bilateral pale optic discs with no evidence of edema and normal retinal vasculature. The results of the examination of the macula were normal in both eyes, with no diabetic retinopathy. A urine specific gravity test was performed, and the urine specific gravity was found to be low (sp g 1.001-1.003), consistent with diabetes insipidus.

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