Department of Pediatrics, Division of Genetics, University of California, San Francisco, San Francisco, CA 94143-0748, USA.
Mol Genet Metab. 2011 Dec;104(4):448-56. doi: 10.1016/j.ymgme.2011.09.029. Epub 2011 Sep 29.
Anophthalmia and microphthalmia (A/M) are significant eye defects because they can have profound effects on visual acuity. A/M is associated with non-ocular abnormalities in an estimated 33-95% of cases and around 25% of patients have an underlying genetic syndrome that is diagnosable. Syndrome recognition is important for targeted molecular genetic testing, prognosis and for counseling regarding recurrence risks. This review provides clinical and molecular information for several of the commonest syndromes associated with A/M: Anophthalmia-Esophageal-Genital syndrome, caused by SOX2 mutations, Anophthalmia and pituitary abnormalities caused by OTX2 mutations, Matthew-Wood syndrome caused by STRA6 mutations, oculofaciocardiodental syndrome and Lenz microphthalmia caused by BCOR mutations, Microphthalmia Linear Skin pigmentation syndrome caused by HCCS mutations, Anophthalmia, pituitary abnormalities, polysyndactyly caused by BMP4 mutations and Waardenburg anophthalmia caused by mutations in SMOC1. In addition, we briefly discuss the ocular and extraocular phenotypes associated with several other important eye developmental genes, including GDF6, VSX2, RAX, SHH, SIX6 and PAX6.
先天性无眼和小眼球（A/M）是严重的眼部缺陷，因为它们可能对视力产生深远影响。A/M 与非眼部异常有关，估计有 33-95%的病例存在，约 25%的患者存在可诊断的潜在遗传综合征。综合征识别对于有针对性的分子遗传学检测、预后以及关于复发风险的咨询都很重要。这篇综述为几种与 A/M 相关的最常见综合征提供了临床和分子信息：由 SOX2 突变引起的先天性无眼-食管-生殖器综合征、由 OTX2 突变引起的先天性无眼和垂体异常、由 STRA6 突变引起的 Matthew-Wood 综合征、由 BCOR 突变引起的眼面心齿指综合征和 Lenz 小眼球、由 HCCS 突变引起的小眼、线性皮肤色素沉着综合征、由 BMP4 突变引起的无眼、垂体异常、多指畸形和 Waardenburg 无眼由 SMOC1 突变引起。此外，我们还简要讨论了与其他几个重要眼发育基因（包括 GDF6、VSX2、RAX、SHH、SIX6 和 PAX6）相关的眼部和眼部以外表型。
