Microphthalmia, Dermal Aplasia, and Sclerocornea Syndrome: Endoscopic Cyclophotocoagulation in the Management of Congenital Glaucoma

Journal of Glaucoma
Atalie C ThompsonLaura B Enyedi

Abstract

To report on the use of endoscopic cyclophotocoagulation (ECP) to treat congenital glaucoma in a triple X female with microphthalmia, dermal aplasia, and sclerocornea (MIDAS) syndrome. The patient demonstrated linear streaks on the face and neck consistent with dermal aplasia. The corneas were scleralized with ectatic areas of corneal thinning, and the eyes were microphthalmic. Ultrasound biomicroscopy demonstrated congenital aphakia and iris stumps. The patient had elevated intraocular pressure (IOP) that responded to topical glaucoma therapy in the right but not the left eye. Intraoperative endoscopy of the posterior segment revealed multiple hypopigmented chorioretinal lacunae surrounding a pale, cupped optic nerve. ECP of the ciliary processes in the left eye led to marked improvement in IOP. Patients with MIDAS syndrome can develop congenital glaucoma secondary to angle dysgenesis. This is the first case report to demonstrate the safe and effective use of ECP to treat elevated IOP in a patient with MIDAS.

References

Aug 17, 2001·Journal of AAPOS : the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus·D E Neely, D A Plager
Nov 29, 2007·Journal of Acquired Immune Deficiency Syndromes : JAIDS·Gregorio A MillettGary Marks
Jun 27, 2008·Cornea·Rashmi KapurDeepak P Edward
Nov 6, 2012·American Journal of Human Genetics·Alessia IndrieriBrunella Franco

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