A 10-year-old boy with kidney hypoplasia and chronic kidney failure presented with visual acuity of 20/25 OD and 20/40 OS. His family history was noncontributory. An examination and spectral-domain optical coherence tomography imaging revealed bilateral macular retinoschisis, subretinal fluid, and optic nerve dysplasia (Figure), consistent with papillorenal syndrome. He was referred for genetic counseling.
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Wibbelsman TD, Xu D, Garg SJ. Papillorenal Syndrome With Macular Retinoschisis and Subretinal Fluid. JAMA Ophthalmol. 2020;138(8):e194774. doi:10.1001/jamaophthalmol.2019.4774
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