Congenital Corneal Staphyloma in an Asian Infant With Kabuki Syndrome Confirmed by a KMT2D Mutation

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This case report presents the first case of congenital corneal staphyloma in an Asian pediatric patient with Kabuki syndrome confirmed by a KMT2D gene mutation. A female infant, born at 38 weeks and 3 days of gestation via cesarean section, was referred immediately after birth for anterior segment dysgenesis of the right eye. The right eye showed microphthalmia accompanied by corneal opacity and limbal deficiency with neovascularization. Intraocular tumors were ruled out by ocular ultrasound and MRI. The left eye appeared normal. Subsequently, the cornea continued to protrude, leading to a clinical diagnosis of corneal staphyloma. At ∼7 months of age, she underwent enucleation with the insertion of an orbital hydroxyapatite implant. The postoperative pathology examination confirmed corneal staphyloma, identifying a fibrous stroma of squamous epithelium with pigmentation. Genetic testing identified a KMT2D gene mutation, confirming a diagnosis of Kabuki syndrome. Her left eye is developing normally with no structural abnormalities.

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