Rod photoreceptor responses in children with Smith-Lemli-Opitz syndrome
Rod photoreceptor responses in children with Smith-Lemli-Opitz syndrome
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DOI：
10.1001/archopht.121.12.1738
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发表时间：
2003-12-01
影响因子：
--
通讯作者：
Fulton, AB
中科院分区：
文献类型：
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作者：
Elias, ER;Hansen, RM;Fulton, AB
目的：验证一种假设，即在患有Smith-Lemli-Optiz综合征（SLOS）的儿童中，视杆光传导的激活和失活动力学发生了改变。sls是一种由先天性胆固醇生物合成错误引起的常见遗传疾病。方法：对13例SLOS患者（中位年龄4岁）进行暗位全场电图研究。通过视网膜电a波推导了光导杆的激活和失活动力学。感受器后视网膜电图成分也进行了评估。结果：13例患者中除3例外，其余患者的活化动力学均低于正常限度。在所有8例被研究的SLOS患者中，杆状细胞恢复（失活）都比正常慢。13例患者中除1例外，其余均低于正常水平。结论：sls患儿光导动力学缓慢。这可能是杆状光感受器细胞膜中固醇成分改变的结果。据我们所知，这是sls中膜结合信号系统动力学改变的第一个证明。对其他膜结合信号系统的研究可能是有必要的，以了解sls患者的发育和表型。
Objective: To test the hypothesis that the kinetics of activation and deactivation of rod phototransduction are altered in children with Smith-Lemli-Optiz syndrome (SLOS), a common genetic disorder caused by an inborn error in cholesterol biosynthesis.Methods: Thirteen patients with SLOS (median age, 4 years) were studied by means of scotopic full-field electroretmography. The kinetics of activation and deactivation of rod phototransduction were derived from the electroretinographic a-wave. Postreceptoral electroretinographic components were also evaluated.Results: The kinetics of activation were below normal limits in all but 3 of the 13 patients. Rod cell recovery (deactivation) in SLOS was slower than normal in all 8 patients in whom it was studied. Postreceptoral sensitivity was below normal limits in all but 1 of the 13 patients.Conclusions: The kinetics of phototransduction are slow in children with SLOS. This is likely a consequence of altered sterol composition in the cell membranes of the rod photoreceptors. To our knowledge, this is the first demonstration of altered kinetics of a membrane-bound signaling system in SLOS. Investigation of other membrane-bound signaling systems may be warranted in the quest to understand development and phenotype of individuals with SLOS.