Stickler Syndrome is a group of disorders affecting different types of collagen (collagenopathy). Stickler Syndrome Type 5 (STL5) is a very rare type.
Chromosome: 1p34
Gene: COL9A2
Product: Collagen IX
Inheritance: autosomal recessive
Clinical manifestations:
(1) high myopia
(2) vitreoretinal degeneration with retinal detachment
(3) sensorineural hearing loss
