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Congenital Refractory Glaucoma

A New Ophthalmic Association of Kabuki Syndrome and its Management With Glaucoma Drainage Devices

Bravetti, Giorgio E., MD*; Gillmann, Kevin, MBBS, FEBOphth, M.Arch*; Mansouri, Kaweh, MD, MPH*,†; Mermoud, André, MD*

doi: 10.1097/IJG.0000000000001201
Online Articles: Case Report/Small Case Series

Introduction: Kabuki syndrome (KS) is a rare congenital and polymalformative condition, traditionally associated with mental retardation, unusual facial features, and skeletal abnormalities. We hereby describe a case of bilateral congenital glaucoma associated with MLL2-mutation KS. To the best of our knowledge, this is the first association of KS with congenital glaucoma.

Case Report: The patient was a 3-year-old male of North African ethnicity diagnosed with KS and bilateral congenital glaucoma at the age of 3 months and the first child of a nonconsanguineous healthy couple, with no known genetic conditions within the family. The patient was referred to our tertiary glaucoma center with uncontrollable intraocular pressures between 50 and 60 mm Hg in both eyes. Past ophthalmic history included bilateral trabeculectomies and right retinal detachment with phthisis bulbi. We performed left lensectomy combined with Baerveldt tube insertion in the vitreous cavity, revealing extensive posterior synechiae. Postoperatively, he developed intense inflammation with fibrin and vitreous strand formation, requiring subsequent surgeries and subconjunctival injections of betamethasone. Despite these complications, IOP stabilized between 3 and 6 mm Hg.

Discussion: This case confirms congenital glaucoma as a rare association of KS, and highlights the potential high-risk nature of such cases. In our opinion, the presence of high levels of inflammation perioperatively and postoperatively is an indication for primary glaucoma drainage device surgery given the high risk of bleb scarring resulting in recurrent surgical revisions. In view of these observations, we also advocate the use of intensive postoperative anti-inflammatory therapy.

*Glaucoma Research Center, Montchoisi Clinic, Swiss Visio Network, Lausanne, Switzerland

Department of Ophthalmology, University of Colorado School of Medicine, Denver, CO

Supported in part by the Swiss Glaucoma Research Foundation, Lausanne, Switzerland.

Disclosure: K.M.: Santen (C), Sensimed (C), Topcon (S), Alcon (S), Allergan (S), Optovue (S), ImplanData (C). A.M.: Alcon (S), Allergan (S), Santen (C), Swiss Advanced Vision (C), Rheon Medical (C), Glaukos (C), Diopsys Inc. (C), DeepCube (C). The remaining authors declare no conflict of interest.

Reprints: Kaweh Mansouri, MD MPH, Glaucoma Research Center, Montchoisi Clinic, Swiss Visio Network, Lausanne, Switzerland (e-mail:

Received December 5, 2018

Accepted January 9, 2019

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