Department of Ophthalmology and Vision Sciences, University of Toronto, Toronto, Canada.
Department of Ophthalmology and Vision Sciences, Hospital for Sick Children, Singapore National Eye Centre, Singapore; and.
Cornea. 2022 Nov 1;41(11):1462-1464. doi: 10.1097/ICO.0000000000003078. Epub 2022 Jul 6.
Anterior segment abnormalities associated with Noonan syndrome are rare. We report our experience with 2 patients who developed keratopathy with significant visual sequelae.
case series.
The first patient is a 9-year-old boy with genetically confirmed Noonan syndrome. At presentation, he was noted to have diffuse inferior epitheliopathy with vascularization and bilateral mild ptosis. Over 1 year, he developed focal areas of scarring with deterioration of vision and underwent superficial keratectomy in the left eye. However, over the following 2 years, he experienced recurrent corneal scarring and vascularization. The second patient is a 7-year-old boy with phenotypic Noonan syndrome. At presentation, he had an anterior subepithelial corneal scar inferiorly with epithelial defects in both eyes. He also had bilateral moderate ptosis and lagophthalmos. Despite lubrication, he developed recurrent bilateral corneal erosions with focal areas of scarring associated with vascularization and underwent superficial keratectomy for both eyes. Despite this, there was worsening corneal scarring and vascularization over time, eventually requiring deep anterior lamellar keratoplasty in the left eye. The host cornea showed a disturbed Bowman layer and an acellular mass of fibrous collagenous tissue between epithelium and stroma.
Noonan syndrome may be associated with visually significant keratopathy, manifesting as focal corneal scarring with vascularization. These changes may due to an excessive fibrotic response in Noonan syndrome. Early recognition and treatment can help to delay the progression of keratopathy and need for surgical intervention.
与努南综合征相关的眼前节异常较为罕见。我们报告了 2 例发生角膜病变并伴有严重视力后遗症的患者的经验。
病例系列研究。
第一例患者为 9 岁男孩，经基因证实患有努南综合征。就诊时，他被发现患有弥漫性下上皮病变伴血管化和双侧轻度上睑下垂。在 1 年多的时间里，他出现了局灶性瘢痕形成，视力恶化，并在左眼接受了浅层角膜切除术。然而，在接下来的 2 年里，他经历了复发性角膜瘢痕和血管化。第二例患者为 7 岁男孩，表现为表型努南综合征。就诊时，他的双眼下方有一个前上皮下角膜瘢痕，伴有上皮缺损。他还患有双侧中度上睑下垂和睑裂闭合不全。尽管进行了润滑，他还是反复出现双侧角膜糜烂，伴有局灶性瘢痕形成和血管化，并接受了双眼浅层角膜切除术。尽管如此，随着时间的推移，角膜瘢痕和血管化仍在恶化，最终左眼需要进行深层前板层角膜移植。宿主角膜的 Bowman 层紊乱，上皮和基质之间存在无细胞的纤维胶原组织块状物。
努南综合征可能与明显的角膜病变有关，表现为局灶性角膜瘢痕伴血管化。这些变化可能是由于努南综合征中过度的纤维化反应所致。早期识别和治疗有助于延缓角膜病变的进展和手术干预的需要。
