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首页> 外文期刊>Proceedings of the National Academy of Sciences of the United States of America >Extreme hyperopia is the result of null mutations in MFRP, which encodes a Frizzled-related protein
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Extreme hyperopia is the result of null mutations in MFRP, which encodes a Frizzled-related protein

机译：极端远视是MFRP中无效突变的结果，该突变编码一种卷曲的相关蛋白

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摘要

Nanophthalmos is a rare disorder of eye development characterized by extreme hyperopia (farsightedness), with refractive error in the range of +8.00 to +25.00 diopters. Because the cornea and lens are normal in size and shape, hyperopia occurs because insufficient growth along the visual axis places these lensing components too close to the retina. Nanophthalmic eyes show considerable thickening of both the choroidal vascular bed and scleral coat, which provide nutritive and structural support for the retina. Thickening of these tissues is a general feature of axial hyperopia, whereas the opposite occurs in myopia. We have mapped recessive nanophthalmos to a unique locus at 11q23.3 and identified four independent mutations in MFRP, a gene that is selectively expressed in the eye and encodes a protein with homology to Tolloid proteases and the Wnt-binding domain of the Frizzled transmembrane receptors. This gene is not critical for retinal function, as patients entirely lacking MFRP can still have good refraction-corrected vision, produce clinically normal electro-retinograms, and show only modest anomalies in the dark adaptation of photoreceptors. MFRP appears primarily devoted to regulating axial length of the eye. It remains to be determined whether natural variation in its activity plays a role in common refractive errors.
机译：纳米眼病是一种罕见的眼部发育异常，其特征是极度远视（远视），屈光度在+8.00至+25.00屈光度之间。由于角膜和晶状体的大小和形状正常，因此会发生远视，因为沿视轴的生长不足会使这些晶状体组件过于靠近视网膜。纳米眼眼显示出脉络膜血管床和巩膜涂层的显着增厚，为视网膜提供了营养和结构支撑。这些组织的增厚是轴向远视的普遍特征，而在近视中则相反。我们已经在11q23.3处将隐性纳米眼球定位到一个独特的基因座，并确定了MFRP中的四个独立突变，MFRP是一种在眼中选择性表达的基因，其编码与Tolloid蛋白酶和Frizzled跨膜受体的Wnt结合域同源的蛋白。该基因对于视网膜功能不是至关重要的，因为完全缺乏MFRP的患者仍然可以具有良好的屈光矫正视力，可以产生临床上正常的视网膜电图，并且在暗适应性光感受器中仅显示适度的异常。 MFRP似乎主要致力于调节眼轴的长度。有待确定其活性的自然变化是否在常见的屈光不正中起作用。

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