BACKGROUND: Dyscephaly, hypotrichosis, beaked nose, micrognathia, dental abnormalities and proportionate short stature characterize Hallermann-Streiff syndrome. The etiology of Hallermann-Streiff syndrome has not yet been established, as most cases have occurred as sporadic events. Common ocular manifestations include microphthalmia, bilateral congenital cataracts with spontaneous rupture and reabsorption, blue sclera and iris atrophy.
CASE REPORT(S). This case report describes the history, evaluation and treatment of an 8-year-old Caucasian male who presents for an eye exam following his pediatrician's recommendation. The pediatrician would like to rule out any ocular complications associated with Hallermann-Streiff syndrome. The patient's last eye exam was four years ago, at which time he was issued a spectacle correction. The patient never wore his spectacles as prescribed. Entering visual acuities were measured at 20/200 in each eye. Refractive findings revealed a significant hyperopic refractive error. Slit lamp evaluation revealed microphthalmia and significant iris atrophy. Dilated fundus examination was unremarkable outside of a slightly large cup-to-disc ratio. The patient presents with a proportionate short stature and dyscephaly with a beak shaped nose.
CONCLUSIONS. This patient presents with some of the ocular and cephalometric findings associated with Hallermann-Streiff syndrome. The patient's significant hyperopic refractive error resulted in a subsequent amblyopia. A spectacle correction was issued and an occlusive treatment plan was initiated. This patient will also be followed every 6 months to monitor the iris atrophy with regular intraocular pressure checks, gonioscopic evaluations and dilated fundus examinations. It is important to evaluate the risk of glaucoma secondary to possible abnormalities of the angle structures. This case illustrates the important life-long role an eye care provider can play in the management of a patient with Hallermann-Streiff syndrome and emphasizes the important characteristics associated with this syndrome.