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

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.