Bascom Palmer Eye Institute, University of Miami Miller School of Medicine, Miami, Florida.
Bascom Palmer Eye Institute, University of Miami Miller School of Medicine, Miami, Florida.
J AAPOS. 2022 Oct;26(5):265-268. doi: 10.1016/j.jaapos.2022.05.007. Epub 2022 Aug 7.
A 2-week-old girl presented with bilateral congenital corneal opacities. Additional systemic manifestations included microcephaly, patent foramen ovale, and poor feeding. Patient and parents underwent whole exome sequencing trio analysis that revealed a de novo pathogenic variant in POGZ (p.Val1150GlyfsX8), which is causative of the White-Sutton syndrome. This rare genetic condition is usually associated with intellectual and developmental delay, facial dysmorphism, strabismus, refractive error, and retinal changes. To our knowledge, this is the first reported case of White-Sutton syndrome presenting with congenital corneal opacities.
一名 2 周大的女婴双侧先天性角膜混浊。其他全身表现包括小头畸形、卵圆孔未闭和喂养不良。患者及其父母接受了外显子组测序三人组分析，发现 POGZ（p.Val1150GlyfsX8）中的一个新生致病性变异，该变异可导致 White-Sutton 综合征。这种罕见的遗传疾病通常与智力和发育迟缓、面部畸形、斜视、屈光不正和视网膜变化有关。据我们所知，这是首例报道的以先天性角膜混浊为表现的 White-Sutton 综合征病例。
