Posts Categorized: Part 29: EYE

Oral treatment for Leber congenital amaurosis

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Koenekoop RK et al. Oral 9-cis retinoid for childhood blindness due to Leber congenital amaurosis caused by RPE65 or LRAT mutations: an open-label phase 1b trial. Lancet. 2014 Jul 11. [Epub ahead of print] Perusek L, Maeda T. Vitamin A derivatives as treatment options for retinal degenerative diseases. Nutrients. 2013 Jul 12;5(7):2646-66.   Koenekoop et […]

Wagner syndrome

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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. […]

New Bardet-Biedl syndrome gene

Posted by & filed under Part 29: EYE, Part 30: MULTISYSTEM INBORN ERRORS OF DEVELOPMENT.

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 […]