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The code of ears, eyes and joints: How does Stickler disease affect our senses?
Stickler syndrome is a group of rare genetic disorders that affect connective tissue, specifically collagen. Characteristics of this condition include noticeable facial abnormalities, eye problems, hearing loss, and joint and bone problems. Stickler syndrome was first studied and described by Gunnar B. Stickler in 1965, and as science advances, the condition is better understood.
Symptoms and characteristics
People with Stickler syndrome experience a variety of symptoms. Some people may have no obvious signs, while others may have some or all of the following characteristics. The manifestations of these characteristics can range from mild to severe.
A striking feature is the slightly flattened appearance of the patient's face, which is caused by underdevelopment of the bones in the midface.
Inadequate development, including the small cheek bones and bridge of the nose, may cause this phenomenon. In addition, children with Stickler disease have a common physiological feature called the Pierre Robin sequence, which includes a U- or V-shaped cleft palate and an overly large tongue, which can affect their ability to swallow. When it comes to vision, many people with Stickler disease often develop high myopia and may be at risk for glaucoma, retinal tears or detachments.
Problems affecting eyes, ears and joints
Eye problems are different for everyone with Stickler syndrome. Patients with the COL2A1 and COL11A1 genes have a unique appearance of the vitreous in their eyes, while patients with non-ocular types may not have this effect. Over time, patients may experience joint pain, bone abnormalities, and scoliosis, among other issues.
People with Stickler disease often have extremely flexible joints, leading to early onset of arthritis that worsens with age.
In addition, patients with Stickler syndrome may also experience varying degrees of hearing loss, and some may even face progressive hearing loss. If the school is not properly informed and provides the necessary assistance, this may result in learning difficulties that do not stem from an intellectual disability.
Cause and genetics
Stickler's disease is thought to be caused by mutations in several collagen genes, which occur primarily during fetal development. This is a sex-independent auto-dominant trait, meaning each child of an individual with the condition has a 50% chance of inheriting it.
The genes that have been identified as being associated with Stickler's disease include COL11A1, COL11A2 and COL2A1, which are critical for collagen production.
Mutations in these genes that are involved in the manufacture, processing, or assembly of collagen lead to damage to the structure and strength of connective tissue that is characteristic of Stickler's disease. However, there are still some patients with undetected mutations in these known genes, suggesting that there may be other undiscovered genes causing the condition.
Diagnosis and Treatment
Diagnosis of Stickler disease usually relies on genetic testing and professional medical evaluation. In terms of treatment, it may involve the cooperation of a multi-professional team, including anesthesiologists, temporomandibular facial surgeons, otolaryngologists, ophthalmologists and various therapists, etc., so that the patient's needs can be fully met.
For people with Stickler syndrome, regular specialist check-ups are very important, especially with regard to vision and hearing.
This comprehensive treatment helps improve patients’ quality of life and reduce the impact of their symptoms. It’s worth noting that Stickler’s disease dates back decades and research continues to grow.
Conclusion
As our understanding of Stickler disease continues to deepen, we also better understand its profound impact on the daily lives of patients. Faced with such a complex disease involving multiple sensory and health issues, we cannot help but ask: How can society further improve the quality of life of these patients in the support and treatment of them?
