Knobloch Syndrome 1 (KNO1)
Knobloch Syndrome 1 (KNO1)
OMIM number: 267750
Comments closing date: 11/04/2024
This is a developmental disorder which is usually identified and diagnosed in infancy. It causes extreme near-sightedness, a degeneration of specific structures of the eyes such as the light sensitive part of the eye at the back (retina) and the middle jelly-like part of the eye which fills the eye (vitreous). Degeneration of the vitreous causes the separation of the light sensitive part of the eye to become detached (retinal detachment). Some individuals may also have abnormalities of the light sensitive part of the eye and the part of the eye which is required for sharp central vision (macula). Another characteristic feature of this condition is a projection of the brain and membranes that cover it through an opening in the skull and/or other skull abnormalities. Due to the issues impacting the central vision, tasks such as reading, driving and recognizing faces are difficult. Affected individuals often develop blindness in one or both eyes.
Review date: 11 March 2026
