Abstract：
Stickler syndrome (SS) is a genetic disorder with manifestations in the eye, ear, joints, face and palate. Usually inherited in a dominant fashion due to heterozygous pathogenic variants in the collagen genes COL2A1 and COL11A1, it can rarely be inherited in a recessive fashion from variants in COL9A1, COL9A2, and COL9A3, COL11A1, as well as the non-collagen genes LRP2, LOXL3 and GZF1. We review the published cases of recessive SS, which comprise 40 patients from 23 families. Both homozygous and compound heterozygous pathogenic variants are found. High myopia is near-universal, and sensorineural hearing loss is very common in patients with variants in genes for type IX or XI collagen, although hearing appears spared in the LRP2 and LOXL3 patients and is variable in GZF1. Cleft palate is associated with type XI collagen variants, as well as the non-collagen genes, but is so far unreported with type IX collagen variants. Retinal detachment has occurred in 18% of all cases, and joint pain in 15%. However, the mean age of this cohort is 11 years old, so the lifetime incidence of both problems may be underestimated. This paper reinforces the importance of screening for SS in congenital sensorineural hearing loss, particularly when associated with myopia, and the need to warn patients and parents of the warning signs of retinal detachment, with regular ophthalmic review.
摘要：
Stickler综合征（SS）是一种在眼部表现的遗传性疾病，耳朵,接头,脸和上颚。通常由于胶原基因COL2A1和COL11A1中的杂合致病变体而以显性方式遗传，很少可以隐性方式从COL9A1，COL9A2和COL9A3，COL11A1以及非胶原基因LRP2，LOXL3和GZF1中的变体遗传。我们回顾了已发表的隐性SS病例，其中包括来自23个家庭的40名患者。发现了纯合和复合杂合致病变体。高度近视接近普遍，感音神经性听力损失在IX型或XI型胶原基因变异的患者中非常常见，尽管LRP2和LOXL3患者的听力似乎幸免，并且在GZF1中是可变的。腭裂与XI型胶原变异有关，以及非胶原基因，但到目前为止还没有关于IX型胶原蛋白变体的报道。所有病例中有18%发生视网膜脱离,关节疼痛占15%。然而,这个群体的平均年龄是11岁，所以这两个问题的终生发生率可能被低估了。本文强调了在先天性感觉神经性耳聋中筛查SS的重要性，特别是当与近视有关时，以及需要警告患者和父母视网膜脱离的警告信号，定期眼科检查。
