Hallermann-Streiff Syndrome in Concordant Monozygotic Twins With Congenital Cataracts, Exudative Retinal Detachments, and One Case of Corneal Perforation Requiring Keratoplasty

Abstract

Purpose: We describe the management of Hallermann-Streiff syndrome in monozygotic female twins with congenital cataracts, exudative retinal detachments, and 1 case of corneal descemetocele with associated dellen and subsequent perforation.

Methods: This study was a case report and review of the literature.

Results: Twins 1 and 2 exhibited all 7 cardinal characteristics of Hallermann-Streiff syndrome, presenting with spontaneous lenticular resorption, anterior uveitis, and glaucoma. They underwent bilateral cataract extraction with near total capsulectomy. Both twins experienced recurrent glaucoma, for which twin 1 underwent successful endocyclophotocoagulation in both eyes and twin 2 in the left eye alone. The fellow eye developed 2 sites of perilimbal corneal descemetoceles with associated dellen at the inferotemporal limbal corneal junction leading to spontaneous perforation of 1 site, requiring a full-thickness corneal graft. Both twins developed recurrent bilateral exudative retinal detachments unresponsive to oral prednisolone. Twin 1's last best-corrected visual acuity with aphakic spectacles was 20/260 in the right eye and 20/130 in the left eye at age 4 years and 8 months. Twin 2's last best-corrected visual acuity was 20/130 in each eye at age 4 years and 11 months, over a year after right eye penetrating keratoplasty.

Conclusions: We describe 2 rare cases of Hallermann-Streiff syndrome in monozygotic twins complicated by corneal perforation requiring penetrating keratoplasty in 1 eye of 1 twin. Although corneal opacities have been described in this condition, this is the first case of corneal descemetocele in Hallermann-Streiff syndrome. The cornea was stabilized with a relatively favorable visual outcome over 1 year later.

Figure 1.

Family pedigree. *Affected twins. gh=good health.

Figure 2.

Microphthalmia, small palpebral fissures, and sparse eyelash and eyebrow hair in Hallermann-Streiff syndrome. Twin 1 at 17 months of age from the (A) front and (B) side view. (C) Twin 2 at three years of age with corneal descemetocele in the right eye. (D) Color fundus photos of the right eye and (E) the left eye of Twin 1 at 23 months showing bilateral exudative retinal detachments involving the macula with hyperemic optic nerves. Twin 2 had similar fundus findings. (F) Corneal descemetocele at the limbus in the right eye of Twin 2 at 3.5 years. The patient went on to corneal perforation one year later.