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Abstract：
The Stickler syndromes are the leading cause of inherited retinal detachment and the most common cause of rhegmatogenous retinal detachment in childhood. The clinical and molecular genetic spectrum of this connective tissue disorder is discussed in this article, emphasising the key role the ophthalmologist has to play in the identification, diagnosis and prevention of blindness in the increasingly widely recognised sub-groups with ocular-only (or minimal systemic) involvement. Without diagnosis and prophylaxis in such high-risk subgroups, these patients are at high risk of Giant Retinal Tear detachment and blindness, especially in the paediatric population, where late or second eye involvement is common. Initially considered a monogenic disorder, there are now known to be at least 11 distinct phenotypic subgroups in addition to allied connective tissue disorders that can present to the clinician as part of the differential diagnosis.
UNASSIGNED: Treatment and diagnostic advances in Stickler syndrome The Stickler syndromes are a group of related connective tissue disorders that are associated with short-sight and a very high risk of blindness from detachment of the retina - the light sensitive film at the back of the eye. Other features include cleft palate, deafness and premature arthritis. It is the most common cause of retinal detachment in children and the most common cause of familial or inherited retinal detachment. In contrast to most other forms of blinding genetic eye disease, blindness from retinal detachment in Stickler syndrome is largely avoidable with accurate diagnosis and prophylactic (preventive) surgery. Recent advances in the understanding of the genetic causes of Stickler syndrome mean that the diagnosis can now be confirmed in over 95% of cases and, most importantly, the patient\'s individual risk of retinal detachment can be graded. Preventative surgery is hugely effective in reducing the incidence of retinal detachment in those patients shown to be at high risk. NHS England have led the way in the multidisciplinary care for patients with Stickler syndrome by launching a highly specialist service that has been free at point of care to all NHS patients in England since 2011 (https://www.england.nhs.uk/commissioning/spec-services/highly-spec-services, www.vitreoretinalservice.org).
UNASSIGNED: Treatment and diagnostic advances in Stickler syndrome The Stickler syndromes are a group of related connective tissue disorders that are associated with short-sight and a very high risk of blindness from detachment of the retina - the light sensitive film at the back of the eye. Other features include cleft palate, deafness and premature arthritis. It is the most common cause of retinal detachment in children and the most common cause of familial or inherited retinal detachment. In contrast to most other forms of blinding genetic eye disease, blindness from retinal detachment in Stickler syndrome is largely avoidable with accurate diagnosis and prophylactic (preventive) surgery. Recent advances in the understanding of the genetic causes of Stickler syndrome mean that the diagnosis can now be confirmed in over 95% of cases and, most importantly, the patient\'s individual risk of retinal detachment can be graded. Preventative surgery is hugely effective in reducing the incidence of retinal detachment in those patients shown to be at high risk. NHS England have led the way in the multidisciplinary care for patients with Stickler syndrome by launching a highly specialist service that has been free at point of care to all NHS patients in England since 2011 (https://www.england.nhs.uk/commissioning/spec-services/highly-spec-services, www.vitreoretinalservice.org).
摘要：
Stickler综合征是遗传性视网膜脱离的主要原因，也是儿童时期孔源性视网膜脱离的最常见原因。本文讨论了这种结缔组织疾病的临床和分子遗传谱，强调眼科医生在鉴定中必须发挥的关键作用，在越来越广泛认可的仅有眼（或最小的全身）受累的亚组中，诊断和预防失明。在这类高危亚组中没有诊断和预防，这些患者存在巨大视网膜撕裂脱离和失明的高风险,尤其是在儿科人群中，晚期或第二眼受累很常见。最初被认为是单基因疾病，目前已知,除了相关结缔组织疾病外,至少有11个不同的表型亚组可作为鉴别诊断的一部分呈现给临床医生.
■Stickler综合征的治疗和诊断进展Stickler综合征是一组相关的结缔组织疾病，与近视有关，并且由于视网膜脱离而失明的风险很高-眼睛后部的光敏膜。其他特征包括腭裂，耳聋和过早的关节炎。它是儿童视网膜脱离的最常见原因，也是家族性或遗传性视网膜脱离的最常见原因。与大多数其他形式的致盲遗传性眼病相反，通过准确的诊断和预防性（预防性）手术，Stickler综合征的视网膜脱离导致的失明在很大程度上是可以避免的。对Stickler综合征遗传原因的认识的最新进展意味着现在可以在超过95％的病例中确认诊断，最重要的是,患者的个体视网膜脱离风险可以分级。预防性手术在降低高危患者视网膜脱离的发生率方面非常有效。NHS英格兰通过推出一项高度专业的服务，在为Stickler综合征患者提供多学科护理方面处于领先地位，该服务自2011年以来一直免费为英格兰所有NHS患者提供护理（https：//www。英格兰。Nhs.英国/调试/规格服务/高规格服务，www.vitreoretinalservice.org)。
■Stickler综合征的治疗和诊断进展Stickler综合征是一组相关的结缔组织疾病，与近视有关，并且由于视网膜脱离而失明的风险很高-眼睛后部的光敏膜。其他特征包括腭裂，耳聋和过早的关节炎。它是儿童视网膜脱离的最常见原因，也是家族性或遗传性视网膜脱离的最常见原因。与大多数其他形式的致盲遗传性眼病相反，通过准确的诊断和预防性（预防性）手术，Stickler综合征的视网膜脱离导致的失明在很大程度上是可以避免的。对Stickler综合征遗传原因的认识的最新进展意味着现在可以在超过95％的病例中确认诊断，最重要的是,患者的个体视网膜脱离风险可以分级。预防性手术在降低高危患者视网膜脱离的发生率方面非常有效。NHS英格兰通过推出一项高度专业的服务，在为Stickler综合征患者提供多学科护理方面处于领先地位，该服务自2011年以来一直免费为英格兰所有NHS患者提供护理（https：//www。英格兰。Nhs.英国/调试/规格服务/高规格服务，www.vitreoretinalservice.org)。
