Journal article
Lumpers or Splitters? The Role of Molecular Diagnosis in Leber Congenital Amaurosis
Ophthalmic Genetics, Vol.27(4), pp.113-115
01/01/2006
DOI: 10.1080/13816810601013146
PMID: 17148037
Abstract
Clarification and classification of the congenital form of blindness known as Leber congenital amaurosis (LCA) continues to provide its challenges and dilemmas. Until recently, seven genes have been identified that cause LCA. Clarifying the relation between LCA and associated neurological abnormalities such as autism, seizures, and hypotony, and unraveling the relationship between the ocular LCA phenotype and that associated with distinct systemic entities such as Joubert syndrome, Senior-Loken syndrome and Saldino-Mainzer syndrome has taken on new importance with the discovery that a substantial proportion of patients with LCA have mutations in the CEP290 gene that causes Joubert syndrome. This commentary explores the implications of this recent discovery and revisits the classification of LCA.
Details
- Title: Subtitle
- Lumpers or Splitters? The Role of Molecular Diagnosis in Leber Congenital Amaurosis
- Creators
- Elias I TraboulsiRobert KoenekoopEdwin M Stone
- Resource Type
- Journal article
- Publication Details
- Ophthalmic Genetics, Vol.27(4), pp.113-115
- DOI
- 10.1080/13816810601013146
- PMID
- 17148037
- NLM abbreviation
- Ophthalmic Genet
- ISSN
- 1381-6810
- eISSN
- 1744-5094
- Publisher
- Taylor & Francis
- Language
- English
- Date published
- 01/01/2006
- Academic Unit
- Iowa Neuroscience Institute; Ophthalmology and Visual Sciences
- Record Identifier
- 9983980001702771
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