Universität zu Köln

Khan, Arif O. and Bolz, Hanno J. (2015). Pediatric Cone-Rod Dystrophy with High Myopia and Nystagmus Suggests Recessive PROM1 Mutations. Ophthalmic Genet., 36 (4). S. 349 - 353. PHILADELPHIA: TAYLOR & FRANCIS INC. ISSN 1744-5094

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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.

Item Type:	Journal Article
Creators:	Creators Email ORCID ORCID Put Code Khan, Arif O. UNSPECIFIED UNSPECIFIED UNSPECIFIED Bolz, Hanno J. UNSPECIFIED UNSPECIFIED UNSPECIFIED
URN:	urn:nbn:de:hbz:38-415226
DOI:	10.3109/13816810.2014.886266
Journal or Publication Title:	Ophthalmic Genet.
Volume:	36
Number:	4
Page Range:	S. 349 - 353
Date:	2015
Publisher:	TAYLOR & FRANCIS INC
Place of Publication:	PHILADELPHIA
ISSN:	1744-5094
Language:	English
Faculty:	Unspecified
Divisions:	Unspecified
Subjects:	no entry
Uncontrolled Keywords:	Keywords Language RETINITIS-PIGMENTOSA; FRAMESHIFT MUTATION; GENE; PHENOTYPE Multiple languages Genetics & Heredity; Ophthalmology Multiple languages
URI:	http://kups.ub.uni-koeln.de/id/eprint/41522