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Abstract #79899 Published in IGR 20-2
Congenital Refractory Glaucoma: a New Ophthalmic Association of Kabuki Syndrome and its Management with Glaucoma Drainage Devices
Bravetti GE; Gillmann K; Mansouri K; Mermoud AJournal of Glaucoma 2019; 28: e96-e98
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 Kabuki Syndrome. 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 non-consanguineous healthy couple, with no known genetic conditions within the family. The patient was referred to our tertiary glaucoma centre with uncontrollable intraocular pressures (IOP) between 50-60▒mmHg 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 3-6▒mmHg. DISCUSSION: This case confirms congenital glaucoma as a rare association of Kabuki Syndrome, and highlights the potential high-risk nature of such cases. In our opinion, the presence of high levels of inflammation peri- and post-operatively 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 post-operative anti-inflammatory therapy.
Glaucoma Research Center, Montchoisi Clinic, Swiss Visio Network, Lausanne, Switzerland.
Full articleClassification:
9.1.1 Congenital glaucoma, Buphthalmos (Part of: 9 Clinical forms of glaucomas > 9.1 Developmental glaucomas)
9.4.15 Glaucoma in relation to systemic disease (Part of: 9 Clinical forms of glaucomas > 9.4 Glaucomas associated with other ocular and systemic disorders)
12.8.2 With tube implant or other drainage devices (Part of: 12 Surgical treatment > 12.8 Filtering surgery)
