Shah Arth, Bapna Monika, Al-Saif Hind, Li Rachel, Couser Natario L
Virginia Commonwealth University School of Medicine, Richmond, Virginia, USA.
Georgetown University School of Medicine, Washington, DC, USA.
Ophthalmic Genet. 2022 Feb;43(1):126-129. doi: 10.1080/13816810.2021.1989601. Epub 2021 Oct 20.
-related disorders are a rare group of intellectual disability syndromes with a broad range of phenotypic characteristics. The phenotypic spectrum of -related disorders currently includes X-Linked Ohdo Syndrome, Lujan-Fryns Syndrome (LS), and FG syndrome type 1 (FG), also known as Opitz-Kaveggia Syndrome. The gene encodes the largest component of the mediator complex of RNA polymerase II, which is critical for recruiting activators and repressors to regulate the transcription of genes critical to growth, development, and differentiation.
We performed a systematic literature review of previously published cases to highlight the key ocular features in individuals with -related disorders. In addition, we present a new case of a female patient with a pathogenic c. 3866A>G, p.Q1289R variant. Ocular manifestations are not uncommon in -related disorders, but have not been characterized in literature reports. Commonly reoccurring reported eye and ocular adnexa features within the spectrum include ptosis, downslanting palpebral fissures, and hypertelorism. Other less common findings include strabismus, astigmatism, and optic nerve hypoplasia.
Our patient presented with developmental delay, mild hypotonia and dysmorphic features including frontal bossing, high arched palate, and syndactyly of the 2 and 3 toes bilaterally.
Ocular manifestations identified in this patient included intermittent esotropia, hyperopic astigmatism, epicanthal folds and ptosis bilaterally.
-相关疾病是一组罕见的智力障碍综合征，具有广泛的表型特征。目前，-相关疾病的表型谱包括X连锁奥多综合征、卢扬-弗林斯综合征（LS）和1型FG综合征（FG），也称为奥皮茨-卡韦吉亚综合征。 基因编码RNA聚合酶II中介复合物的最大组成部分，这对于招募激活因子和抑制因子以调节对生长、发育和分化至关重要的基因的转录至关重要。
我们对先前发表的病例进行了系统的文献综述，以突出-相关疾病患者的关键眼部特征。此外，我们报告了一例携带致病性c. 3866A>G，p.Q1289R变异的女性患者的新病例。眼部表现在-相关疾病中并不罕见，但在文献报道中尚未得到描述。该疾病谱中常见的眼部和眼附属器特征包括上睑下垂、睑裂向下倾斜和眼距过宽。其他不太常见的发现包括斜视、散光和视神经发育不全。
我们的患者表现出发育迟缓、轻度肌张力低下和畸形特征，包括额部隆起、高拱腭和双侧第2和第3趾并指。
该患者确定的眼部表现包括间歇性内斜视、远视散光、内眦赘皮和双侧上睑下垂。
