Although the prevalence of Stickler syndrome is not known with certainty today, Orphanet estimates that the incidence at birth is between 1/7500 or 1/9000.
“As its name suggests, Stickler syndrome can affect several organs and varies greatly from one case to another,” says ophthalmologist Professor Isabelle Audo. Stickler syndrome is a rare genetic disease of the connective tissue that combines ocular manifestations (moderate to high myopia, strabismus, retinal degeneration or retinal detachment, etc.), abnormalities of the ENT sphere (isolated cleft palate or part of Pierre Robin syndrome), osteoarticular disorders (scoliosis, kyphosis, early osteoarthritis, etc.) as well as deafness of varying severity in 40% of patients.
This hereditary connective tissue disease is caused by mutations in certain genes responsible for the formation of collagen. “The syndrome is generally transmitted in an autosomal dominant manner,” explains the specialist. “This means that it is enough to have one of the two mutated copies to develop the disease. Stickler syndrome affects both boys and girls and the diagnosis is often made in a family context: either the father or the mother can be affected.”
Stickler syndrome is characterized by manifestations whose severity varies from one patient to another:
Mainly clinical, the diagnosis is often made in the (…)
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