Article
Of mice and men: tyrosinase modification of congenital glaucoma in mice but not in humans.
Investigative ophthalmology & visual science - 1 Apr 2006
Bidinost Carla, Hernandez Natalie, Edward Deepak P, Al-Rajhi Ali, Lewis Richard Alan, Lupski James R, Stockton David W, Bejjani Bassem A
Abstract excerpt
PURPOSE: Primary congenital glaucoma (PCG) is an autosomal recessive ocular trait caused by mutations in the gene for cytochrome P4501B1 (CYP1B1). Although PCG is often considered to be fully penetrant, the disease shows 50% penetrance in some Saudi Arabian families. The familial segregation of the nonpenetrance suggests a genetic modifier. Recently, tyrosinase (Tyr) deficiency was found to worsen the drainage...
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