From the Guidelines
Stickler syndrome is a genetic disorder characterized by a combination of ocular, auditory, and skeletal abnormalities, primarily caused by mutations in the COL2A1 gene, as reported in the most recent study 1. The condition is associated with a range of features, including:
- High myopia
- Retrolental, transvitreal, and epiretinal membranes and strands
- Chorioretinal pigment alterations
- Lattice degeneration, often with a perivascular component that extends posteriorly
- Various other abnormalities, including glaucoma and cataract 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, many of which can be very subtle. The inheritance pattern of Stickler syndrome is autosomal dominant, meaning each child of an affected person has a 50% chance of inheriting the condition, as noted in 1. Management of Stickler syndrome involves a multidisciplinary approach, with regular eye examinations to monitor for retinal detachments, hearing assessments, and orthopedic care for joint issues, as well as genetic counseling for affected individuals and their families, as supported by the study 1. It is essential to prioritize early intervention, as preventive measures like prophylactic laser treatment for the retina can prevent vision loss, highlighting the importance of timely management in improving outcomes for individuals with Stickler syndrome, as reported in 1.
From the Research
Definition and Characteristics of Stickler Syndrome
- Stickler syndrome is a connective tissue disorder characterized by ocular, skeletal, orofacial, and auditory manifestations 2, 3, 4, 5, 6.
- The main symptoms include high myopia, retinal detachment, joint hypermobility, early osteoarthritis, cleft palate, midfacial hypoplasia, micrognathia, and hearing loss 2, 3, 4, 5, 6.
Genetic Basis and Variability
- Stickler syndrome is caused by mutations in different collagen genes, including COL2A1, COL11A1, COL11A2, COL9A1, COL9A2, and COL9A3, as well as non-collagen genes such as BMP4, LRP2, and LOXL3 2, 3, 4, 5, 6.
- The syndrome can be inherited in an autosomal dominant or recessive fashion, with varying degrees of severity and expression 3, 4, 5, 6.
- Large phenotypical variability is apparent, partly explained by the underlying genetic heterogeneity 2, 3, 4, 5, 6.
Hearing Loss in Stickler Syndrome
- Hearing loss is a common feature of Stickler syndrome, with a prevalence of around 62.9% in some studies 4.
- The type and severity of hearing loss vary depending on the underlying genetic mutation, with COL11A1 and COL11A2 mutations associated with more frequent and severe hearing loss 2, 4, 6.
- Sensorineural hearing loss is the most common type, but conductive and mixed hearing loss can also occur, particularly in young patients or those with palatal defects 2, 4, 6.
Diagnosis and Management
- Diagnosis of Stickler syndrome is often based on a combination of clinical features, genetic testing, and audiologic evaluation 5, 6.
- Regular auditory follow-up is strongly advised, particularly because many Stickler patients are visually impaired 2, 4, 6.
- Early detection and treatment of hearing loss are crucial to prevent long-term consequences and improve quality of life for individuals with Stickler syndrome 2, 4, 6.