Stickler syndrome
Stickler syndrome is a genetic connective tissue disorder.
Search results
Stickler syndrome is a genetic connective tissue disorder.
Many research studies could not take place without the participation of people living with inherited sight loss.
X-linked retinoschisis (XLRS) is an inherited condition that causes early loss of mainly central vision in males.
Best disease, also known as Best vitelliform macular dystrophy (BVMD), is is an inherited eye condition associated with progressive degeneration of the macula and is a form of juvenile macular dystrophy.
Choroideremia is a genetic condition that causes progressive vision loss, mostly in males.
Retinitis pigmentosa (RP) is an inherited eye condition that affects the photoreceptor cells responsible for capturing images from the visual field.
Refsum syndrome is an inherited metabolic condition, associated with elevated phytanic acid plasma levels, which impacts many body systems.
Alstrom syndrome is an inherited condition which affects many body systems.
Achromatopsia is a rare hereditary vision disorder affecting approximately 1 in 30,000 newborn babies.
A recording of the Retina UK Professionals' Conference on 27 September 2024. The Conference was held at the Pendulum Hotel in Manchester and online.