title: Pediatric Cone-Rod Dystrophy with High Myopia and Nystagmus Suggests Recessive PROM1 Mutations.
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.
authors.affiliation: a King Khaled Eye Specialist Hospital, Division of Pediatric Ophthalmology , Riyadh , Saudi Arabia .
authors.forename: Arif O
authors.initials: AO
authors.lastname: Khan
authors.affiliation: b Center of Human Genetics , Bioscientia , Ingelheim , Germany , and.|c Institute of Human Genetics, University Hospital of Cologne , Cologne , Germany.
authors.forename: Hanno J
authors.initials: HJ
authors.lastname: Bolz
mesh_terms: D000071916:AC133 Antigen; D015703:Antigens, CD / Q000235:genetics*; D005260:Female; D005451:Fluorescein Angiography; D005808:Genes, Recessive; D006023:Glycoproteins / Q000235:genetics*; D006801:Humans; D009154:Mutation; D047728:Myopia, Degenerative / Q000175:diagnosis / Q000235:genetics*; D009759:Nystagmus, Pathologic / Q000175:diagnosis / Q000235:genetics*; D010455:Peptides / Q000235:genetics*; D012174:Retinitis Pigmentosa / Q000175:diagnosis / Q000235:genetics*; D041623:Tomography, Optical Coherence; D055815:Young Adult
chemical_list: D000071916:AC133 Antigen; D015703:Antigens, CD; D006023:Glycoproteins; C000606023:PROM1 protein, human; D010455:Peptides
keywords: Cone-rod dystrophy; PROM1; high myopia; nystagmus