Shimada Ayaka, Takayanagi Yuji, Ichioka Sho, Ishida Akiko, Tanito Masaki
Department of Ophthalmology, Shimane University Faculty of Medicine, Izumo, Japan.
Am J Ophthalmol Case Rep. 2022 May 25;27:101595. doi: 10.1016/j.ajoc.2022.101595. eCollection 2022 Sep.
Hallermann-Streiff syndrome (HSS) is a rare congenital disorder characterized by dyscephaly, hypotrichosis, microphthalmia, dental anomalies, and cutaneous atrophy. Because of the presence of a characteristic facial appearance, severe visual disturbance, and/or upper airway obstruction, most patients with HSS are diagnosed as having a congenital anomaly as a newborn or early in life. We report a case of HSS that was first recognized when the patient was in her seventh decade of life.
A 68-year-old woman presented to our department for decreased vision in both eyes (OU). Her ocular medical history included "ocular injections" in her left eye (OS); laser iridotomies OU, cataract surgery OS, and removal of corneal opacity OU; she did not have a remarkable systemic medical history. At the initial visit to our department, her best-corrected visual acuity was 0.5 in her right eye (OD) and 0.1 OS with +4.0-diopter hyperopic correction OU, corneal opacity due to calcification OU, a shallow anterior chamber and iridotrabecular contact OD were observed. During the surgical intervention OD, the surgeon recognized a "blue sclera," and the physicians initially suspected an underlying systemic malformation. Although mild, she presented with a thin beak-like nose and receding chin. In combination with the ocular features, the proportionate short stature, and a characteristic facial appearance, she was diagnosed with HSS.
Patients with HSS who had no clinically significant cosmetic, visual, and respiratory problems early in life may not be recognized as having HSS. The presence of corneal opacity, short axial length, and a blue sclera recognized by ophthalmologists can lead to the correct diagnosis of this congenital disorder.
哈勒曼-施特雷夫综合征（HSS）是一种罕见的先天性疾病，其特征为头颅畸形、毛发稀少、小眼症、牙齿异常和皮肤萎缩。由于具有特征性的面部外观、严重的视力障碍和/或上呼吸道梗阻，大多数HSS患者在新生儿期或生命早期被诊断为先天性异常。我们报告一例HSS病例，该病例在患者70多岁时才首次被确诊。
一名68岁女性因双眼视力下降就诊于我院。她的眼部病史包括左眼（OS）“眼内注射”；双眼激光虹膜切开术、左眼白内障手术以及双眼角膜混浊切除术；她没有明显的全身病史。在初次就诊时，她的右眼最佳矫正视力为0.5（OD），左眼为0.1，双眼矫正远视度数为+4.0屈光度，观察到双眼角膜因钙化而混浊，右眼前房浅且虹膜小梁接触。在右眼手术干预期间，外科医生发现了“蓝色巩膜”，医生最初怀疑存在潜在的全身畸形。尽管症状较轻，但她表现出薄而喙状的鼻子和后缩的下巴。结合眼部特征、身材比例矮小和特征性面部外观，她被诊断为HSS。
早年无明显临床美容、视力和呼吸问题的HSS患者可能未被识别为患有HSS。眼科医生识别出的角膜混浊、眼轴短和蓝色巩膜可导致对这种先天性疾病的正确诊断。
