Purpose This is the first report that describes a case of Kabuki syndrome with peripheral retinal ischemia and neovascular glaucoma. Case report A 44-year-old woman with genetically confirmed Kabuki syndrome was referred with bilateral elevated intraocular pressure (circa 50mmHG in both eyes), and longstanding poor vision and high myopia (6/60 vision right, counting fingers left eye). Slit-lamp examination revealed bilateral microcornea (10 mm), right eye angle neovascularization, and 3 mm left eye hyphema associated with 360° rubeosis iridis confirmed on fluorescein angiography. Fundoscopy showed a cup-to-disc ratio of 0.5 in right eye and significant peripapillary chorioretinal atrophy, with coloboma-like features in left eye. Widefield fluorescein angiography showed asymmetrical peripheral retinal ischaemia, with telangiectatic mid-peripheral vessels, which leaked in the late phase of fluorescein angiography. A diagnosis of secondary neovascular glaucoma due to ischaemic retinal vasculopathy was made. Conclusion This case expands the known ocular phenotype of Kabuki syndrome to include peripheral retinal ischaemia and neovascular glaucoma.. It highlights the importance of early, comprehensive ophthalmologic assessment and multidisciplinary management in patients with Kabuki syndrome, especially when complicated by vision-threatening conditions like neovascular glaucoma.
Tsivitanidou et al. (Mon,) studied this question.