Posterior polymorphic dystrophy of the cornea associated with retinal cone dystrophy

Distrofia polimorfa posterior de la córnea asociada con distrofia retiniana de conos

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.

• American Academy of Ophthalmology 2003 - 2004. Basic and clinical science course. Section 8 2003-2004: external disease and cornea. San Francisco: American Academy of Ophthalmology; 2004.

• Grupcheva CN, Chew GS, Edwards M, Craig JP, McGhee. Imaging posterior polymorphous corneal dystrophy by in vivo confocal microscopy. Clin Experiment Ophthalmol. 2001 Aug; 29(4):256-9.

• Kaufman HE, Barron BA, McDonald, MB, editores. The Cornea. 2nd ed. [New York]: Butterworth Heinmann, 1997.

• Klintworth GK. The molecular genetics of the corneal dystrophies - current status. Front Biosci. 2003 May 1; 8: 687-713.

• Krachmer JH, Mannis MJ, Holland EJ, Palay DA, editors. Córnea text & color atlas [CD-ROM]. St Louis : Mosby; 1998.

• PubMed [base de datos en Internet]. National Library of Medicine. C2007. . [citado 17 Mar 2007]. Disponible en: www.pubmed.com

• Regillo CD, editor. Basic and clinical science course. Section 12 2003-2004: retina and vitreous. San Francisco: American Academy of Ophthalmology; 2006.

• Ryan SJ, Hinton DR, Schachat AP. Retina [CD-ROM]. 3rd ed. St Louis : Mosby; 1995.

• Smolin G, Thoft R. The cornea, 3rd ed. [si]: Little, Brown and Company, 1994.

• Tasman W, Jaeger EA. editores. Duane's clinical ophthalmology [CD-ROM]. Philadelphia: Lippincott, Williams & Wilkins, 2003.

• Voo I, Small KW.. Update on the genetics of macular dystrophies.Retina. 2004 Aug; 24(4):591-601.

• Yanoff M, Duker JS. Ophthalmology [monografía en Internet]. 2nd ed. [Washington]: Elsevier; 2004. [citado 17 Mar 2007]. Disponible en: http://www.ophtext.com