Visual impairment and progressive phthisis bulbi (VIPB) is a rare autosomal recessive disorder characterized by congenital vision loss and progressive eye degeneration. It has been reported that mutations in MARK3 cause this disease. MARK3, a member of the MARK family, regulates several essential pathways, including the cell cycle, ciliated cell differentiation, and osteoclast differentiation.
Ansar M, Chung H, Waryah YM, Makrythanasis P, Falconnet E, Rao AR, Guipponi M, Narsani AK, Fingerhut R, Santoni FA, Ranza E, Waryah AM, Bellen HJ, Antonarakis SE
タイトル
Visual impairment and progressive phthisis bulbi caused by recessive pathogenic variant in MARK3.
