Graf Christie Michelle, Nichele Samantha, Siviero Renata Bigolin, Loth Gisele, Trennepohl Joanna Paula, Zinher Mariana Tosato, Grandinetti Alexandre, Pilonetto Daniela Vandresen, Pasquini Ricardo, Ramos Moreira Ana Tereza, Bonfim Carmem
Ophthalmic Reference Center, Hospital De Clinicas, Federal University of Parana, Curitiba, Brazil.
Bone Marrow Transplantation Service, Hospital De Clinicas, Federal University of Parana, Curitiba, Brazil.
J Pediatr. 2022 Mar;242:228-234.e1. doi: 10.1016/j.jpeds.2021.11.013. Epub 2021 Nov 11.
To describe the prevalence of acquired ocular manifestations in patients with Fanconi anemia (FA) and to describe and correlate the congenital ocular malformations with the genetic subtypes of the disease.
This is a cross-sectional observational study of 106 consecutive patients with confirmed diagnosis of FA who were followed at the Hematopoietic Stem Cell Transplantation (HSCT) Service at the Federal University of Paraná, Curitiba, Parana, Brazil. Participants underwent a complete ophthalmologic evaluation and 84 patients underwent ocular ultrasound examination. This study was conducted between November 2014 and August 2017.
The patients ranged in age from 6 months to 43 years of age. Microphthalmia was the most common congenital ocular abnormality (95.2%). A decrease in anthropometric measurements was observed, including palpebral fissure length (78/103 patients [76.5%]), microcornea (48/103 patients [46.6%]), and ptosis (31/103 patients [30.1%]). We identified a new ophthalmic condition in 15 patients with FA, that is, epiretinal tissue on the optic disc. The genetic subtype was identified in 78 patients (79.6%), the FA-A subtype was most prevalent (50%). The most common acquired ocular manifestation (non-graft-versus-host disease [GVHD] related) in patients who did not undergo HSCT (n = 44) was limbal neovascularization (13.6%), whereas in patients who underwent HSCT (n = 62), the GVHD-related manifestation was ocular GVHD (51.6%). The most frequent symptom of ocular GVHD was keratoconjunctivitis sicca (29%).
Several ocular manifestations were identified in patients with FA.
描述范可尼贫血（FA）患者获得性眼部表现的患病率，并描述先天性眼部畸形与该疾病基因亚型之间的关系并进行相关性分析。
这是一项横断面观察性研究，对106例确诊为FA的连续患者进行了研究，这些患者在巴西巴拉那州库里蒂巴的巴拉那联邦大学造血干细胞移植服务中心接受随访。参与者接受了全面的眼科评估，84例患者接受了眼部超声检查。本研究于2014年11月至2017年8月进行。
患者年龄从6个月至43岁不等。小眼症是最常见的先天性眼部异常（95.2%）。观察到人体测量指标下降，包括睑裂长度（103例患者中的78例[76.5%]）、小角膜（103例患者中的48例[46.6%]）和上睑下垂（103例患者中的31例[30.1%]）。我们在15例FA患者中发现了一种新的眼部疾病，即视盘上的视网膜前组织。78例患者（79.6%）确定了基因亚型；FA-A亚型最为常见（50%）。未接受造血干细胞移植（HSCT）的患者（n = 44）中最常见的获得性眼部表现（与移植物抗宿主病[GVHD]无关）是角膜缘新生血管形成（13.6%），而接受HSCT的患者（n = 62）中，与GVHD相关的表现是眼部GVHD（51.6%）。眼部GVHD最常见的症状是干眼症（29%）。
在FA患者中发现了几种眼部表现。
