Fuchs Josefine, Holm Kári, Vilhelmsen Kaj, Rosenberg Thomas, Scherfig Erik, Fledelius Hans C
Department of Ophthalmology, Rigshospitalet, Copenhagen, Denmark.
Ophthalmic Genet. 2005 Mar;26(1):9-15. doi: 10.1080/13816810590918406.
To characterize the phenotype of two families with high hypermetropia from the Faroe Islands.
Ophthalmologic evaluation including ultrasound oculometry and anthropometric measurements.
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.
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
对来自法罗群岛的两个高度远视家族的表型进行特征描述。
眼科评估，包括超声眼轴测量和人体测量。
在40名接受检查的家庭成员中，15人（8名男性，7名女性；年龄：6 - 77岁；平均36.5岁）有深陷的小眼睛，伴有高度远视（中位数：+16.5 D；范围：+7.75至+22），眼轴短（<21 mm），眼壁增厚。矫正视力中位数为0.4（0.2 - 0.9）。眼部并发症包括6只眼发生闭角型青光眼，3只眼发生脉络膜渗漏，2只眼发生白内障，3只眼发生内斜视伴弱视。1例YAG虹膜切开术后发生脉络膜渗漏和视网膜脱离的急症病例，最终经全身使用皮质类固醇和巩膜切除术治疗后视力缓慢恢复。该系列中未发现相关的眼部或全身畸形。除了这两个接受检查的家族外，还简要报告了另外6个患有高度远视的法罗小家族。
该研究突出了一种罕见遗传表型的体征和症状，其特征为主要局限于眼球后段的短眼轴、浅前房和增厚的眼壁。这些形态学特征易引发威胁视力的并发症，如闭角型青光眼、包括脉络膜渗漏在内的脉络膜视网膜病变以及弱视。因此，对于已知有小眼睛/高度远视的家族，定期眼科随访显然很重要。法罗群岛的地方高患病率提示存在奠基者效应，进一步的基因研究可能表明为假显性而非显性遗传。
