Posterior polymorphic dystrophy of the cornea associated with retinal cone dystrophy Distrofia polimorfa posterior de la córnea asociada con distrofia retiniana de conos

Abstract

Current medicine focuses on diseases at the molecular and genetic level, and the entire scientific community must collaborate to that end. When we find pathologies of genetic origin with variations not published before, it is our duty to inform you and thus help your knowledge. We report a 43-year-old patient with a history of progressive reduction of vision by both eyes from childhood. Your family history is negative. Ophthalmological examination revealed poor bilateral acuity, corneal lesions compatible with DPP of the cornea and on fundoscopy a "bull's eye" image. Complementary studies of macular campimetry, electroretinogram, fluorescein angiography and Farnsworth Munsell 15D color test were requested, which demonstrated alterations in the cones of the macula corroborating the diagnosis of DRC. The prevalence of PPD and CRD is very low and we have not found any report of the literature in which they are presented in a single patient. This opens the doors to new concerns such as Is there a genetic relationship between the two alterations? If the family history is negative, are the two pathologies the result of a de novo mutation? We hope in the not too distant future to be able to answer these questions. Abbreviations: DPP, posterior polymorphic dystrophy; DRC; cone retinal dystrophy.