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Ophthalmic Genet. 2015;36(4):349-52. doi: 10.3109/13816810.2014.886266. Epub 2014 Feb 18.

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

Author information

  • 1a King Khaled Eye Specialist Hospital, Division of Pediatric Ophthalmology , Riyadh , Saudi Arabia .
  • 2b Center of Human Genetics , Bioscientia , Ingelheim , Germany , and.
  • 3c Institute of Human Genetics, University Hospital of Cologne , Cologne , Germany.

Abstract

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.

KEYWORDS:

Cone-rod dystrophy; PROM1; high myopia; nystagmus

PMID:
24547909
DOI:
10.3109/13816810.2014.886266
[PubMed - indexed for MEDLINE]
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