Pediatric Cone-Rod Dystrophy with High Myopia and Nystagmus Suggests Recessive PROM1 Mutations

Pediatric cone-rod dystrophies are a genetically heterogenous group of disorders characterized by photophobia, progressive loss of central vision, and subsequent gradual loss of peripheral vision. In general, clinical presentation is not specific for a particular gene mutation; however, there are exceptions, which are important to recognize in order to facilitate molecular diagnosis. In this report, we highlight that pediatric cone-rod dystrophy with high myopia and nystagmus suggests recessive mutations in the gene PROM1.