Hallermann-Streiff syndrome diagnosed in the seventh decade of life

PURPOSE: 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. OBSERVATIONS: 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. CONCLUSIONS AND IMPORTANCE: 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.