An unusual case of Kabuki Syndrome with retinal ischaemia and neovascular glaucoma.
Elektra Tsivitanidou, Enrico Lupardi, Zubin Saihan et al.
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Case in brief
A 44-year-old woman with genetically confirmed Kabuki syndrome presented with bilateral intraocular pressures of approximately 50 mmHg, longstanding poor vision and high myopia. Examination showed microcornea, right angle neovascularization, and left hyphema with 360° iris neovascularization. Widefield fluorescein angiography demonstrated asymmetric peripheral retinal ischaemia and leaking telangiectatic mid-peripheral vessels. These findings supported a diagnosis of secondary neovascular glaucoma due to ischaemic retinal vasculopathy.
What made this case unusual
The combination of peripheral retinal ischaemia and neovascular glaucoma extends the reported ocular phenotype of Kabuki syndrome.
Diagnostic / clinical pearl
In Kabuki syndrome with neovascular glaucoma, assess the peripheral retina: widefield fluorescein angiography in this case revealed ischaemia and leaking telangiectatic vessels underlying the glaucoma.
Why it matters
The report highlights the value of early, comprehensive ophthalmologic assessment and multidisciplinary management when vision-threatening complications are present.