Background: The Hallermann-Streiff syndrome (HSS) is a rare congenital disorder characterized by seven characteristic features as follows: peculiar faces (short head, thin lips, and small nose), dental anomalies, short stature, hypotrichosis, skin atrophy, bilateral microphthalmia, and congenital cataract. Only approximately 200 cases of HSS have been reported worldwide, and there are a few reports on adult patients with ocular complications such as glaucoma and bullous keratopathy, in addition to bilateral microphthalmia and congenital cataract. Herein, we report the ocular findings in adult patients with HSS and primarily discuss the management of glaucoma.
Cases: We included four adult female patients with HSS aged 26-50 years. Two of four patients had all seven features. The corrected visual acuity ranged from counting fingers to 30 cm to 0.3, intraocular pressure from 4 to 20 mmHg, axial length from 15.47 to 18.70 mm, and corneal endothelial densities from immeasurable to 2,492 cells/mm². Five eyes of three patients showed the presence of glaucoma, and three eyes of two patients showed the presence of bullous keratopathy. One patient developed secondary glaucoma after undergoing penetrating keratoplasty for bullous keratopathy and phthisis bulbi after undergoing trabeculectomy.
Conclusions: The results of this study suggest that adult patients with HSS have poor visual prognosis due to glaucoma and bullous keratopathy. The surgical methods and timing of surgery for glaucoma and bullous keratopathy should be carefully determined in patients with HSS.
Nippon Ganka Gakkai Zasshi (J Jpn Ophthalmol Soc) 126: 760-771,2022.