Ocular coloboma-a comprehensive review for the clinician.

Ocular coloboma-a comprehensive review for the clinician.
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DOI:
10.1038/s41433-021-01501-5
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发表时间:
2021-08
期刊:
Eye (London, England)
影响因子:
--
通讯作者:
Xinyi S
Xinyi S
中科院分区:
其他
文献类型:
--
作者:
Lingam G;Sen AC;Lingam V;Bhende M;Padhi TR;Xinyi S

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典型的眼缺损是由于胚胎裂闭合不良引起的。缺损的发生可以是散发性的,遗传性的(已知或未知的基因缺陷)或与染色体异常有关。当由染色体异常引起时,眼部缺损更常与全身异常相关。眼部表现差异很大。在一个极端,眼睛几乎无法识别和无功能-被眼眶囊肿压迫,而在另一个极端,人们发现几乎不影响眼睛的结构和功能的最小参与。在眼底,变异性涉及缺损的大小(前后和横向范围)以及视盘和中央凹的受累。当缺损累及椎间盘和中心凹时,视力会受到影响,或并发视网膜脱离、脉络膜新生血管膜、白内障、未矫正屈光不正引起的弱视等。虽然基本的出生异常无法矫正,但上述大部分并发症在很大程度上是可以矫正的。目前,对缺损相关视网膜脱离的手术治疗已取得了持续良好的效果。由于小眼球和相对较硬的晶状体,这些眼睛的白内障手术可能会带来挑战,导致术中并发症的风险增加。脉络膜缺损边缘的预防性激光视网膜固定术似乎是一个有吸引力的选择,以减少与缺损相关的视网膜脱离的风险。然而,大多数眼睛的视盘位于脉络膜缺损内,因此难以安全地进行完整的治疗。
Typical ocular coloboma is caused by defective closure of the embryonal fissure. The occurrence of coloboma can be sporadic, hereditary (known or unknown gene defects) or associated with chromosomal abnormalities. Ocular colobomata are more often associated with systemic abnormalities when caused by chromosomal abnormalities. The ocular manifestations vary widely. At one extreme, the eye is hardly recognisable and non-functional—having been compressed by an orbital cyst, while at the other, one finds minimalistic involvement that hardly affects the structure and function of the eye. In the fundus, the variability involves the size of the coloboma (anteroposterior and transverse extent) and the involvement of the optic disc and fovea. The visual acuity is affected when coloboma involves disc and fovea, or is complicated by occurrence of retinal detachment, choroidal neovascular membrane, cataract, amblyopia due to uncorrected refractive errors, etc. While the basic birth anomaly cannot be corrected, most of the complications listed above are correctable to a great extent. Current day surgical management of coloboma-related retinal detachments has evolved to yield consistently good results. Cataract surgery in these eyes can pose a challenge due to a combination of microphthalmos and relatively hard lenses, resulting in increased risk of intra-operative complications. Prophylactic laser retinopexy to the border of choroidal coloboma appears to be an attractive option for reducing risk of coloboma-related retinal detachment. However, a majority of the eyes have the optic disc within the choroidal coloboma, thus making it difficult to safely administer a complete treatment.
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发表时间: 2011-03
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发表时间: 1983-01-01
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DOI: 10.1001/archneur.1980.00500530048006
发表时间: 1980-01-01
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