DISEASE: Visual impairment and progressive phthisis bulbi
Entry
H02775 Disease
Name
Visual impairment and progressive phthisis bulbi
Description
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.
Category
Nervous system disease
Brite
Human diseases in ICD-11 classification [BR:br08403]
09 Diseases of the visual system
Disorders of the eyeball affecting both anterior and posterior segments
9C22 Eyeball deformity
H02775 Visual impairment and progressive phthisis bulbi
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
Title
Visual impairment and progressive phthisis bulbi caused by recessive pathogenic variant in MARK3.
