[National Protocol for the Diagnosis and Management of Stickler syndrome: Summary for the attending physician]

Stickler syndrome, first described by Günnar Stickler in the United States in 1965 as "progressive hereditary arthro-ophthalmopathy", is classified by ophthalmologists as a rare hereditary vitreoretinopathy of connective tissue. Thanks to advances in molecular genetics, different subtypes of the syndrome are now recognized. Its prevalence at birth has been estimated to be between 1 in 7500 and 1 in 10,000. Stickler syndrome is a rare genetic disorder, specifically a multi-system collagenopathy. It is characterized by ocular abnormalities such as severe congenital myopia, cataracts, and retinal detachment, as well as systemic anomalies including craniofacial, auditory, and musculoskeletal (joint) issues. It is primarily caused by mutations in genes encoding various types of collagen and can be inherited in either an autosomal dominant or autosomal recessive pattern. However, this syndrome is both phenotypically and genotypically heterogeneous, which makes recognition and diagnosis challenging. Genetic testing can confirm the diagnosis. Management and regular clinical monitoring of the patient by specialists such as ophthalmologists, ENT (ear, nose, and throat) doctors, physical medicine and rehabilitation specialists, and, if necessary, orthopedic surgeons are essential to prevent secondary complications. Additionally, support from pain management or palliative care teams may be required. However, primary care physicians are often unfamiliar with the symptoms of Stickler syndrome or its potential complications, including blindness and deafness. The goal of consultations is to confirm the diagnosis, rule out other differential diagnoses, identify complications, and optimize care in the ophthalmological, ENT, rheumatological, and physical medicine and rehabilitation fields, as well as in orthopedic surgery, with the possibility of consulting pain management or palliative care specialists as necessary. The objective of this National Protocol for Diagnosis and Management (PNDS) is to present healthcare professionals with the most current and optimal diagnostic and therapeutic management strategies, as well as to standardize and improve patient care across the healthcare system.