Hereditary high hypermetropia in the Faroe Islands.
Hereditary high hypermetropia in the Faroe Islands.
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DOI：
10.1080/13816810590918406
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发表时间：
2005-03-01
影响因子：
1.2
通讯作者：
Fledelius, Hans C
中科院分区：
文献类型：
--
作者：
Fuchs, Josefine;Holm, Kari;Fledelius, Hans C
目得：描述来自法罗群岛的两个高度远视家族的表型，方法：眼科评估包括超声测眼术和人体测量。（8名男性，7名女性;年龄：6-77岁;平均：36.5岁）具有小的深凹眼睛和高度远视（中值：+16.5D;范围：+7.75至+22），短眼轴长度（< 21 mm），和增厚的眼壁。中位矫正视力为0.4（0.2-0.9）。眼部并发症包括闭角型青光眼6眼，葡萄膜积液3眼，白内障2眼，内斜视伴弱视3眼。一例Yag虹膜切开术后葡萄膜渗出和视网膜脱离的急诊病例最终对全身性皮质类固醇和巩膜切除手术作出反应，视力恢复缓慢。在该系列中未发现相关的眼部或全身畸形。除了两个检查的家庭，6个较小的法罗群岛家庭与高度远视简要reported.CONCLUSIONS：这项研究突出了一种罕见的遗传性表型的体征和症状，其特征是短轴长度主要局限于眼后段，浅前房，和增厚的眼壁。这种形态特征易导致危及视力的并发症，如闭角型青光眼、脉络膜视网膜病变（包括葡萄膜渗出）和弱视。因此，定期眼科随访在已知有小眼睛/高度远视的家庭中非常重要。法罗群岛的地方性高流行率表明存在奠基者效应，进一步的遗传学研究可能表明假显性传播而不是显性传播
PURPOSE: To characterize the phenotype of two families with high hypermetropia from the Faroe Islands.METHODS: Ophthalmologic evaluation including ultrasound oculometry and anthropometric measurements.RESULTS: Of the 40 examined family members, 15 individuals (8 males, 7 females; ages: 6-77 years; mean: 36.5 years) had small deep-set eyes with high hypermetropia (median: + 16.5 D; range: + 7.75 to + 22), short axial eye length (< 21 mm), and a thickened eye wall. The median corrected visual acuity was 0.4 (0.2-0.9). Ocular complications included angle-closure glaucoma in six eyes, uveal effusion in three eyes, cataract in two eyes, and esotropia with amblyopia in three eyes. An emergency case of uveal effusion and retinal detachment after Yag iridotomy eventually responded to systemic corticosteroids and scleral resection surgery with a slow visual recovery. No associated ocular or systemic malformations were found in the series. In addition to the two examined families, six smaller Faroese families with high hypermetropia are briefly reported.CONCLUSIONS: The study highlights the signs and symptoms of a rare hereditary phenotype characterized by a short axial length mainly confined to the posterior segment of the eye, a shallow anterior chamber, and a thickened eye wall. The morphological characteristics predispose for sight-threatening complications such as angle-closure glaucoma, chorioretinal pathology including uveal effusion, and amblyopia. Regular ophthalmic follow-up is therefore of obvious importance in families known to have small eyes/high hypermetropia. An endemic high prevalence in the Faroe Islands suggests the presence of a founder effect, and further genetic research would probably indicate pseudodominant rather than dominant transmission