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Abstract：
Megalocornea and anterior megalophthalmos (megalocornea spectrum) disorders are typically defined by corneal diameter > 12.5 mm in the absence of elevated intraocular pressure. Clinical features overlap with keratoglobus but are distinct from buphthalmos and severe (globus) keratoconus. Megalocornea spectrum disorders and keratoglobus are primarily congenital disorders, often with syndromic associations; both can present with large and thin corneas, creating difficulty in diagnosis, however, only keratoglobus is typically progressive. Molecular genetics provide significant insight into underlying aetiologies. Nonetheless, careful clinical assessment remains intrinsic to diagnosis. Surgical management can be challenging due to the enlarged ciliary ring and weakened zonules in megalocornea spectrum disorders and the extreme corneal thinning of keratoglobus. In this review, the established literature on measurement of corneal diameter, diagnosis of megalocornea, anterior megalophthalmos and keratoglobus, differentiation from severe keratoconus, recent molecular genetics research and key surgical modalities in the management of these rare disorders are outlined and discussed.
摘要：
在不存在升高的眼内压的情况下,巨大角膜和前巨大眼球(巨大角膜谱)病症通常由角膜直径>12.5mm定义。临床特征与角膜角球重叠，但与白斑和严重（球形）圆锥角膜不同。角膜巨谱疾病和角膜角球主要是先天性疾病，通常具有综合征性关联；两者都可以呈现大而薄的角膜，造成诊断困难，然而,只有角膜角化球是典型的进行性。分子遗传学提供了对潜在病因的重要见解。尽管如此，仔细的临床评估仍然是诊断的内在因素.由于巨大角膜谱系疾病中的睫状环增大和小带减弱以及角膜角球的角膜极度变薄，手术治疗可能具有挑战性。在这次审查中,关于角膜直径测量的既定文献，巨大角膜的诊断，前巨眼和角膜角球，与严重圆锥角膜的分化，概述和讨论了最近的分子遗传学研究和治疗这些罕见疾病的关键手术方式。
