Childhood Myopic Foveoschisis in LRPAP1-associated Myopia

Abstract

This case reports the development of foveoschisis in a child with high myopia due to a homozygous LRPAP1 pathogenic variant. A 9-year-old girl with high myopia due to a homozygous mutation in the LRPAP1 gene and a history of retinal detachment repair in her right eye, presented on follow-up with progressive myopic foveoschisis in the left eye noted on optical coherence tomography. The schitic changes evolved into a lamellar macular hole and required vitrectomy. Postoperatively, stabilization of the condition was achieved. Myopic foveoschisis could develop in childhood in the setting of recessive LRPAP1 pathogenic variants. Long_term follow-up is needed to determine the natural history of early-onset myopic foveoschisis.