American journal of ophthalmology · 2026
Visual Outcomes and Associated Risk Factors for Blindness in Axenfeld-Rieger Syndrome.
СтатьяМногоцентровое исследованиеНазвание и аннотация: Перевод в очереди
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Seresirikachorn Kasem, Thiamthat Warakorn, Bitrian Elena, Chang Ta Chen Peter
Аннотация
PURPOSE: To evaluate long-term visual outcomes in Axenfeld-Rieger syndrome (ARS), quantify blindness rates, and identify risk factors of blindness in ARS-related glaucoma.
DESIGN: Retrospective cohort study.
METHODS: Consecutive surgically naïve ARS patients diagnosed before age 18 at three tertiary hospitals in Thailand and the United States (2004-2023) were included. Visual status was classified per World Health Organization criteria. Outcomes were proportions of visual impairment/blindness at baseline and final follow-up, progression to blindness at 3, 5, and 10 years, and risk factors.
RESULTS: Ninety-six patients (189 eyes; mean age 4.05 ± 5.35 years) were followed for 8.72 ± 5.76 years. Glaucoma developed in 55.5% of eyes. Among glaucomatous eyes, 17.4% were blind at presentation; blindness progressed to 19.2% at 3 years, 27.5% at 5 years, and 36.3% at 10 years. Bilateral blindness occurred in 23.5% of glaucoma patients. Pathogenic FOXC1 variants were identified in 2 of 5 families, all with at least moderate impairment. Risk factors of blindness included poor initial visual acuity (AoR = 9.72, P = .002), higher intraocular pressure (IOP) (AoR = 1.153, P = .020), number of glaucoma surgeries (AoR = 1.92, P < .001), cloudy cornea (AoR = 4.42, P = .001), female sex (AoR = 6.36, P = .017), and Asian ethnicity (AoR = 6.06, P = .027).
CONCLUSIONS: Nearly 40% of ARS eyes with glaucoma develop blindness within 10 years. Risk factors include poor VA, elevated IOP, number of glaucoma surgeries, cloudy cornea, female sex, and Asian ethnicity. Early detection, aggressive IOP control, and close monitoring are critical to preserve vision.
DESIGN: Retrospective cohort study.
METHODS: Consecutive surgically naïve ARS patients diagnosed before age 18 at three tertiary hospitals in Thailand and the United States (2004-2023) were included. Visual status was classified per World Health Organization criteria. Outcomes were proportions of visual impairment/blindness at baseline and final follow-up, progression to blindness at 3, 5, and 10 years, and risk factors.
RESULTS: Ninety-six patients (189 eyes; mean age 4.05 ± 5.35 years) were followed for 8.72 ± 5.76 years. Glaucoma developed in 55.5% of eyes. Among glaucomatous eyes, 17.4% were blind at presentation; blindness progressed to 19.2% at 3 years, 27.5% at 5 years, and 36.3% at 10 years. Bilateral blindness occurred in 23.5% of glaucoma patients. Pathogenic FOXC1 variants were identified in 2 of 5 families, all with at least moderate impairment. Risk factors of blindness included poor initial visual acuity (AoR = 9.72, P = .002), higher intraocular pressure (IOP) (AoR = 1.153, P = .020), number of glaucoma surgeries (AoR = 1.92, P < .001), cloudy cornea (AoR = 4.42, P = .001), female sex (AoR = 6.36, P = .017), and Asian ethnicity (AoR = 6.06, P = .027).
CONCLUSIONS: Nearly 40% of ARS eyes with glaucoma develop blindness within 10 years. Risk factors include poor VA, elevated IOP, number of glaucoma surgeries, cloudy cornea, female sex, and Asian ethnicity. Early detection, aggressive IOP control, and close monitoring are critical to preserve vision.