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

J Glaucoma. 2018 Jan;27(1):e7-e10. doi: 10.1097/IJG.0000000000000812.

Abstract

Purpose: 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.

Observations: 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.

Conclusions and importance: 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.

Publication types

  • Case Reports

MeSH terms

  • Chromosomes, Human, X
  • Ciliary Body / surgery*
  • Endoscopy*
  • Female
  • Genetic Diseases, X-Linked / complications*
  • Genetic Diseases, X-Linked / diagnosis
  • Humans
  • Hydrophthalmos / etiology
  • Hydrophthalmos / surgery*
  • Infant
  • Intraocular Pressure
  • Laser Coagulation*
  • Microphthalmos / complications*
  • Microphthalmos / diagnosis
  • Microscopy, Acoustic
  • Sex Chromosome Aberrations
  • Sex Chromosome Disorders of Sex Development / complications*
  • Sex Chromosome Disorders of Sex Development / diagnosis
  • Skin Abnormalities / complications*
  • Skin Abnormalities / diagnosis
  • Tonometry, Ocular
  • Trisomy / diagnosis

Supplementary concepts

  • Microphthalmia, syndromic 7
  • Triple X syndrome