■我们介绍了一例患有浮港综合征(FHS)并双侧脉络膜视网膜缺损(CC)的儿童。据我们所知,这是该协会的首例病例报告。Floating-Harbor综合征是一种极为罕见的常染色体显性遗传病,报告约100例。它的特点是一系列非典型特征,包括身材矮小,骨龄延迟,低出生体重,骨骼异常,说话发育迟缓,和畸形的面部特征通常描绘三角形的脸,深陷的眼睛,长睫毛,突出的鼻子
■我们的患者在7岁时接受了儿科眼科医生的检查。视敏度,每次访视时收集光学相干断层扫描(OCT)和Optos成像.该患者由儿科遗传学家下令进行全基因组测序,以确认Floating-Harbor综合征。
■我们展示了患者的OCT和Optos图像,这些图像说明了患者双眼下脉络膜视网膜缺损的位置。收集的全基因组测序报告揭示了SRCAP基因中的杂合的从头致病变体,与文献中的浮动港综合征诊断一致。
■遗传和系统发现均与我们患者的Floating-Harbor综合征的诊断一致。Rubenstein-Taybi和Floating-Harbor综合征在分子和物理表现上具有相似性,但是由于鲁宾斯坦-泰比诊断的患病率,这是一种综合征,包括结肠瘤,经常相互关联。因此,视网膜检查应该成为FHS患者的标准协议的一部分,作为正确的诊断,检查和治疗可以防止不可逆的视网膜损伤。
UNASSIGNED: We present a case of a child with Floating-Harbor Syndrome (FHS) with bilateral chorioretinal coloboma (CC). To the best of our knowledge, this is the first case report of this association. Floating- Harbor syndrome is an extremely rare autosomal dominant genetic disorder with approximately 100 cases reported. It is characterized by a series of atypical features that include short stature with delayed bone age, low birth weight, skeletal anomalies, delayed speech development, and dysmorphic facial characteristics that typically portray a triangular face, deep-set eyes, long eyelashes, and prominent nose.
UNASSIGNED: Our patient was examined by a pediatric ophthalmologist for the time at age of 7. Visual acuity, optical coherence tomography (OCT) and Optos imaging were collected on every visit. The patient had whole genome sequencing ordered by a pediatric geneticist to confirm Floating-Harbor syndrome.
UNASSIGNED: We present the patient\'s OCT and Optos images that illustrate the location of the patient\'s inferior chorioretinal coloboma in both eyes. The whole genome sequencing report collected revealed a heterozygous de novo pathogenic variant in the SRCAP gene, consistent with a Floating-Harbor syndrome diagnosis in the literature.
UNASSIGNED: Both genetic and systemic findings are consistent with the diagnosis of Floating-Harbor syndrome in our patient. Rubenstein-Taybi and Floating-Harbor syndrome share a similarity in molecular and physical manifestations, but because of the prevalence in Rubenstein-Taybi diagnoses, it is a syndromic condition that includes coloboma and frequently associated with each other. Therefore, a retinal exam should become part of the standard protocol for those with FHS, as proper diagnosis, examination and treatment can prevent irreversible retinal damage.