Juvenile Retinoschisis in a 4 year old boy: Case report

Abstract

X-Linked Juvenile Retinoschisis (XLJR) is a rare congenital disease of the retina in children with a prevalence of between 15,000 to 30,000. It almost always occurs in males and is characterized by poor vision due to resultant macular degeneration. We present a case report of this condition in a 4 year old boy whose only presenting symptom was poor vision. He had concurrent mixed astigmatism which initially masked this diagnosis. Failure of the poor vision to improve despite spectacle correction prompted further evaluation. The definitive diagnosis was made through ocular imaging using retinal photography and Optical Coherence Tomography (OCT).
High index of suspicion and close follow-up is critical to point to rare cases that need further investigation in unexplained visual symptoms in children; which can be masked by common conditions such as refractive errors and amblyopia.