Hallermann-Streiff syndrome with uncommon ocular features, ultrasound biomicroscopy and optical coherence tomography findings: A case report.

ABSTRACT

RATIONALE Hallermann-Streiff syndrome (HSS) is a rare congenital disorder characterized by craniofacial malformations, sparse hair, degenerative skin changes, eye abnormalities, dental defects, and proportionate short stature. PATIENT CONCERNS A 24-year-old Chinese male patient presented to the ophthalmologist because of his sore eye and blurred vision. DIAGNOSES The final diagnosis of presented case is HSS having the main features of the syndrome, however, associated with uncommon ocular features, ultrasound biomicroscopy (UBM) and optical coherence tomography (OCT)changes, including aphakia, glaucoma, long eye axes, cilliary abnormalities, and chorioretinal atrophy. INTERVENTIONS: Antiglaucomatous medical therapy failed to reduce the pressure in the right eye and a cyclocryotherapy was carried out. The antiglaucoma eye drops was continued in the left eye. OUTCOMES: The intraocular pressure has been reduced to the normal range, but the vision has not improved. LESSONS In the diagnosis of HSS, we should not ignore the extraordinary information especially uncommon ophthalmic features, UBM and OCT changes. We highlight the necessity of a multidisciplinary approach for accurate diagnosis and appropriate management.