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- The OMMBID Blog » archive for 'Part 29: EYE'
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Wagner syndrome
- August 1st, 2006
Wagner syndrome (hyaloideoretinal degeneration of Wagner) is an autosomal dominant vitreoretinopathy. It manifests at childhood or adolescence and is progressive. In the original Swiss kindred, most patients had an “empty” vitreous cavity with avascular strands or veils. The molecular cause for this condition in the original kindred was recently identified:
Mol Vis. 2006 Apr 17;12:350-5.
Identification of the genetic defect in the original Wagner syndrome family.
Kloeckener-Gruissem B, Bartholdi D, Abdou MT, Zimmermann DR, Berger W.For more information on inherited disorders of the eye, see part 29 of OMMBID.
Thank you very much in advance for your contributions to this blog (Click on login to register and post a message).
Philippe Campeau, MD
Resident in Medical Genetics at McGill University
OMMBID Blog Administrator -
New Bardet-Biedl syndrome gene
- May 31st, 2006
Nat Genet. 2006 May;38(5):521-4. Epub 2006 Apr 2.
BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS
locus.
Stoetzel C. et al.This french group identified a new gene mutated in up to 20% of the patients with Bardet-Biedl syndrome.
For information on retinitis pigmentosa which affects patients with Bardet-Biedl syndrome, please see chapter 235.
Thank you very much in advance for your contributions to this blog (Click on login to register and post a message).
Philippe Campeau, MD
Resident in Medical Genetics at McGill University
OMMBID Blog Administrator
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