Sage Journals: Discover world-class research

Abstract

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.

Keywords

Congenital disorder glaucoma neovascular glaucoma retina retinal telangiectasias

Get full access to this article

View all access options for this article.

References

Niikawa

Matsuura

Fukushima

, et al. Kabuki make-up syndrome: a syndrome of mental retardation, unusual facies, large and protruding ears, and postnatal growth deficiency. J Pediatr 1981; 99: 565–569. doi:10.1016/S0022-3476(81)80255-7

Kuroki

Suzuki

Chyo

, et al. A new malformation syndrome of long palpebral fissures, large ears, depressed nasal tip, and skeletal anomalies associated with postnatal dwarfism and mental retardation. J Pediatr 1981; 99: 570–573. doi:10.1016/S0022-3476(81)80256-9

Barry

Tsaparlis

Hoffman

, et al. From genotype to phenotype-A review of kabuki syndrome. Genes (Basel) 2022; 13: 1761. doi:10.3390/genes13101761

Kluijt

van Dorp

Kwee

, et al. Kabuki syndrome - report of six cases and review of the literature with emphasis on ocular features. Ophthalmic Genet 2000; 21: 51–61. doi:10.1076/1381-6810(200003)2111-IFT051

Merdler-Rabinowicz

Prat

Pode-Shakked

, et al. Ophthalmic manifestations in Kabuki (make-up) syndrome: a single-center pediatric cohort and systematic review of the literature. Eur J Med Genet 2021; 64: 104210. doi:10.1016/j.ejmg.2021.104210

Cheon

Choi

Park

, et al. Ocular manifestations in kabuki syndrome: a report of 10 cases and literature review. Ophthalmic Genet 2021; 42: 101–104. doi:10.1080/13816810.2020.1861308

Hannibal

Buckingham

, et al. Spectrum of MLL2 (ALR) mutations in 110 cases of Kabuki syndrome. Am J Med Genet A 2011; 155: 1511–1516. doi:10.1002/ajmg.a.34074

López-Font

De Arrigunaga

Santos da Cruz

, et al. Novel KMT2D pathogenic variant causing Kabuki Syndrome with associated macular abnormalities and retinopathy of prematurity. Ophthalmic Genet 2025; 46: 489–494.

Urbonavičiūtė

Buteikienė

Janulevičienė

. A review of neovascular glaucoma: etiology, pathogenesis, diagnosis, and treatment. Medicina (Kaunas) 2022; 58: 1870. doi:10.3390/medicina58121870

10.

Serrano M de

Demarest

Tone-Pah-Hote

, et al. Inhibition of notch signaling rescues cardiovascular development in Kabuki Syndrome. PLoS Biol 2019; 17: e3000087. doi:10.1371/journal.pbio.3000087

11.

Anandan

Porter

Nemeth

, et al. Coats-type retinal telangiectasia in case of kabuki make-up syndrome (niikawa-Kuroki syndrome). Ophthalmic Genet 2005; 26: 181–183. doi:10.1080/13816810500374433

12.

Shah

Fulton

Jabroun

, et al. Insights into the genotype-phenotype relationship of ocular manifestations in Kabuki syndrome. Am J Med Genet A 2023; 191: 1325–1338. doi:10.1002/ajmg.a.63155

13.

Chuah

Brown

. New fundus findings in a case of kabuki syndrome. Eye 2009; 23: 1483–1485. doi:10.1038/eye.2008.227

14.

Bouaziz

Ferrone

. Serous-Exudative detachment and progressive macular degeneration in a patient with kabuki and marfan syndrome. Ophthalmic Surg Lasers Imaging Retina 2024; 55: 541–544. doi:10.3928/23258160-20240624-01

An unusual case of Kabuki Syndrome with retinal ischaemia and neovascular glaucoma