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.
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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