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

Abstract excerpt

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...

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