From the Guidelines
Stickler syndrome is a genetic disorder that requires a multidisciplinary approach for management, focusing on regular ophthalmologic examinations, laser treatment or surgery for retinal detachment, hearing aids for hearing loss, physical therapy and pain management for joint issues, and genetic counseling due to its autosomal dominant inheritance pattern. The condition is characterized by high myopia, retrolental, transvitreal, and epiretinal membranes and strands, chorioretinal pigment alterations, lattice degeneration, and various other abnormalities including glaucoma and cataract, as noted in a study published in the journal Ophthalmology in 2020 1. Systemic features of Stickler syndrome include a generalized skeletal dysplasia, often with a marfanoid habitus, flattened facies, high arched or cleft palate, hearing loss, and other extracranial skeletal anomalies. Some key aspects of managing Stickler syndrome include:
- Regular ophthalmologic examinations to monitor for retinal detachment and other eye complications
- Laser treatment or surgery for retinal detachment, as needed
- Hearing aids for managing hearing loss
- Physical therapy and pain management with medications like NSAIDs for joint issues
- Orthopedic surgery for severe joint cases
- Surgical repair of cleft palate, typically before 18 months of age
- Genetic counseling for affected individuals and their families due to the autosomal dominant inheritance pattern, as highlighted in the study published in Ophthalmology in 2020 1. Given the complexity and variability of Stickler syndrome, a multidisciplinary care approach involving specialists in ophthalmology, audiology, orthopedics, and genetics is essential for providing the best outcomes for managing this lifelong condition, as supported by the most recent evidence from 2020 1.
From the Research
Strickler Syndrome Overview
- Strickler syndrome is a group of related connective tissue disorders associated with short-sight and a high risk of blindness from detachment of the retina 2.
- It is the most common cause of retinal detachment in children and the most common cause of familial or inherited retinal detachment 2.
- Other features of Strickler syndrome include cleft palate, deafness, and premature arthritis 2.
Diagnosis and Treatment
- Recent advances in the understanding of the genetic causes of Strickler syndrome mean that the diagnosis can now be confirmed in over 95% of cases 2.
- Preventative surgery is highly effective in reducing the incidence of retinal detachment in those patients shown to be at high risk 2.
- NHS England has launched a highly specialist service for patients with Strickler syndrome, which has been free at point of care to all NHS patients in England since 2011 2.
Related Conditions
- Hereditary hemorrhagic telangiectasia (HHT) is a rare autosomal dominant condition associated with arteriovenous malformations (AVMs) or telangiectasias of the pulmonary, gastrointestinal, or hepatic circulations 3, 4.
- Bevacizumab, an anti-vascular endothelial growth factor antibody, may be effective in treating bleeding in HHT 3, 4.
- Iron deficiency anemia is a common cause of anemia severe enough to be considered for red blood cell transfusion, and intravenous iron therapy is generally the treatment of choice for absolute iron deficiency in patients with complex medical disorders 5, 6.
Management of Anemia
- Severe anemia is commonly treated with red blood cell transfusion, and clinical trials have demonstrated that a restrictive transfusion strategy of 7 to 8 g/dL is as safe as a liberal transfusion strategy of 9 to 10 g/dL in many clinical settings 5.
- Intravenous iron supplementation can reduce red blood cell transfusions, and high-dose intravenous iron formulations allow the complete correction of iron deficiency with just one or two drug infusions 6.