A 7-year-old girl presents with her father complaining of mildly decreased vision. An eye specialist referred her with a diagnosis of juvenile X-linked retinoschisis (JXLR). She was previously offered glasses that did not seem to improve her vision much. The best corrected visual acuity is 20/50 in the right eye and 20/60 in the left eye. Upon further questioning, she is the only one affected in her family and her father’s vision is normal but there is a positive family history of consanguinity.
Tarek S. Shoala, MSc, FRCS(Glasg); Ocular Genetics Fellow, Flaum Eye Institute – University of Rochester
Alex V. Levin, MD, MHSc Pediatric Ophthalmology and Ocular Genetics, Flaum Eye Institute, Clinical Genetics, Golisano Children’s Hospital, University of Rochester Medical Center