We appreciate the points raised by Dr. Khan in response to our recent article, as well as the opportunity to clarify our findings in an effort to provide a thorough phenotypic characterization of patients within the holoprosencephaly (HPE) spectrum [Solomon et al, 2010b; Pineda-Alvarez et al, 2011]. One question raised by Dr. Khan pertained to the methods of corneal measurements. The horizontal corneal diameters of the patients in our study were measured using digital scaled-photography technique. Despite arguments of lack of precision and overestimation of the horizontal corneal diameters, there is extensive evidence that this technique correlates with gold-standard techniques, for example, via calipers under general anesthesia [Robinson et al., 1989; Lagreze and Zobor, 2007; Puvanachandra and Lyons, 2009]. In response to Dr. Khan's questions about specific ocular phenotypes we described in our article, Patient 1 was a 34-year-old woman at the time of the examination and presented with horizontal corneal diameters of 10.5 mm OU, which are in the lower end of "relative" microcornea. Patient 2 was a 12-year-old boy who presented with smaller than average ocular axial lengths (below the 5th centile in the right eye measuring 21.69 mm, and approximately at the 5th centile in the left eye measuring 22.48 mm).
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机译：我们感谢Khan博士在回应我们最近的文章时提出的观点，并感谢有机会澄清我们的发现，以期为全脑前性（HPE）频谱内的患者提供全面的表型表征[Solomon et al，2010b; Pineda-Alvarez等，2011]。 Khan博士提出的一个问题与角膜测量方法有关。本研究中患者的水平角膜直径是使用数字比例摄影技术测量的。尽管缺乏精确度和高估了水平角膜直径的争论，但有大量证据表明，该技术与金标准技术相关，例如，在全身麻醉下通过卡尺[Robinson et al。，1989; Lagreze和Zobor，2007年; Puvanachandra和Lyons，2009年]。为了回答我们在文章中描述的Khan博士关于特定眼表型的问题，患者1在检查时是一名34岁女性，其水平角膜直径为10.5 mm OU，在较低端“相对”微角膜。患者2是一个12岁的男孩，他的眼轴长度小于平均水平（在右眼的第5个百分位以下，长21.69 mm，在左眼的第5个百分位，大约22.48 mm）。
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