Slotnick Samantha, Fitzgerald David E, Sherman Jerome, Krumholz David M
State University of New York, State College of Optometry, New York, New York 10541, USA.
Optometry. 2007 Feb;78(2):71-7. doi: 10.1016/j.optm.2006.08.016.
Posterior microphthalmos is a relatively rare condition that has been reported to coexist with several other ophthalmic conditions. However, to the best of the authors' knowledge, there are no previous reports that have found posterior microphthalmos and refractive, binocular, retinal, and neurologic considerations, along with a possible hereditary component. The following report documents the coexistence of posterior microphthalmos with severe hyperopia, esotropia, macular folds, and optic nerve hypoplasia in a pair of siblings.
A 9-year-old Hispanic girl presented for a comprehensive eye examination. Best-corrected visual acuity (VA) was reduced in both eyes with poorer VA in the right eye. Binocular testing found a small angle constant right esotropia (ET). On dilated fundus examination, a peculiar, elevated, dolphin-shaped folding of the macula was identified, the right eye greater than the left eye, that extended toward an anomalous optic nerve head in both eyes (OU), presumed to be a disc hypoplasia. The patient's brother, who also exhibited severe hyperopia and ET, presented with a similar acuity reduction, a nearly identical folded macular appearance, the right eye more so than the left eye, and a probable optic nerve hypoplasia. Pachymetry, ultrasonography, and ocular coherence tomography imaging of both siblings found thickened corneas in the presence of posterior microphthalmos OU and macular folds affecting only the retina, leaving the choroid and sclera unaffected.
Posterior microphthalmos may exist in the presence of ocular anomalies along with refractive, binocular, retinal, neurologic, and genetic considerations. In this case, optical coherence tomography provided information on the internal morphology of the macular folds, which helped direct the differential diagnosis. The similar presentation among siblings supports a hereditary component that warrants further investigation.
后部小眼球是一种相对罕见的病症，据报道它可与其他几种眼科病症共存。然而，就作者所知，此前尚无报告发现后部小眼球与屈光、双眼视、视网膜及神经学方面的因素相关，以及可能存在的遗传因素。以下报告记录了一对兄妹中后部小眼球与重度远视、内斜视、黄斑皱褶及视神经发育不全并存的情况。
一名9岁西班牙裔女孩前来进行全面眼部检查。双眼最佳矫正视力（VA）均下降，右眼视力更差。双眼视功能检查发现右眼存在小角度恒定内斜视（ET）。散瞳眼底检查时，发现黄斑区有奇特的、隆起的、海豚形状的皱褶，右眼比左眼更明显，且双眼均延伸至异常的视神经乳头，推测为视盘发育不全。该患者的哥哥也表现出重度远视和内斜视，视力下降情况相似，黄斑皱褶外观几乎相同，右眼比左眼更明显，且可能存在视神经发育不全。对这对兄妹进行的角膜厚度测量、超声检查及光学相干断层扫描成像发现，双眼均存在后部小眼球且角膜增厚，黄斑皱褶仅累及视网膜，脉络膜和巩膜未受影响。
后部小眼球可能与眼部异常并存，同时涉及屈光、双眼视、视网膜、神经学及遗传学方面的因素。在本病例中，光学相干断层扫描提供了黄斑皱褶内部形态的信息，有助于指导鉴别诊断。兄妹间相似的表现支持存在遗传因素，值得进一步研究。
