Ocular findings associated with chromosome 22q11.2 duplication

被引：8

作者：

Forbes, Brian J. ^{[1
,2
]}

McDonald-McGinn, Donna M. ^{[3
,4
]}

Wootton, Georgia ^{[1
,2
]}

Dawson, Lindsay ^{[1
,2
]}

Zackai, Elaine ^{[3
,4
]}

Binenbaum, Gil ^{[1
,2
]}

机构：

[1] Childrens Hosp Philadelphia, Div Ophthalmol, Philadelphia, PA 19104 USA

[2] Univ Penn, Div Ophthalmol, Perelman Sch Med, Philadelphia, PA 19104 USA

[3] Childrens Hosp Philadelphia, Human Genet, Philadelphia, PA 19104 USA

[4] Univ Penn, Perelman Sch Med, Philadelphia, PA 19104 USA

来源：

JOURNAL OF AAPOS | 2016年 / 20卷 / 03期

关键词：

DELETION SYNDROME; MICRODUPLICATION; 22Q11.2;

D O I：

10.1016/j.jaapos.2016.02.003

中图分类号：

R77 [眼科学];

学科分类号：

100212 ;

摘要：

We describe the ocular features of the chromosome 22q11.2 duplication syndrome and provide ophthalmologic examination recommendations for affected patients. The medical records of 19 children with chromosome 22q11.2 duplication who had undergone complete ophthalmological examination, including dilated fundus examination and cycloplegic refraction, were studied retrospectively. Over half of the children with 22q11.2 duplication syndrome were found to have visually significant ocular abnormalities, including 6 with strabismus, 2 with moderately high astigmatism requiring glasses, 1 with unilateral congenital cataract requiring surgery, 1 with optic disk drusen, 1 with bilateral megalocornea with normal eye pressures,) with nystagmus that resolved spontaneously, and 1 with delayed visual maturation. Because of the high incidence of conditions that could affect visual development, we recommend that children with 22q11.2 duplication syndrome have a complete ophthalmological examination on diagnosis and regular vision screenings by their primary care physician thereafter.

引用

页码：278 / 280

页数：3

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