Beyond Iris Absence: Associated Ocular Abnormalities In A Pediatric Case With Aniridia

Aniridia is a complex panocular genetic disorder that affects multiple ocular structures beyond the iris. This report emphasizes the need for comprehensive ophthalmologic evaluation, as patients may present with glaucoma, limbal stem cell deficiency, cataract, foveal hypoplasia, nystagmus, and strabismus. Systemic and genetic assessment is essential due to associations with potentially life-threatening conditions such as WAGR and Gillespie syndromes, emphasizing the need for integrated multidisciplinary evaluation and treatment.

Tertiary referral academic ophthalmology center and private assistance foundation providing multidisciplinary subspecialty care, Mexico City, Mexico.

A 7 year old female presented with poor vision and abnormal eye movements since birth. Ocular history included congenital nystagmus, congenital cataract, prior examination under anesthesia in infancy, and right-eye goniotomy at 2 years of age. Best-corrected visual acuity was 20/400 in both eyes. Refraction showed mixed astigmatism in both eyes. Intraocular pressure was 10–12 mmHg by Goldmann applanation tonometry. Strabismus evaluation revealed a 40 prism diopter exotropia with low amplitude horizontal nystagmus with high latency. Slit lamp examination demonstrated apparent iris absence with residual iridic tissue on gonioscopy, 360° superficial corneal neovascularization, and posterior subcapsular cataracts involving the visual axis. Fundoscopy showed normal optic discs and absence of foveal depression, suggestive of foveal hypoplasia. Specular microscopy revealed preserved endothelial counts with increased central corneal thickness. Due to limited cooperation and nystagmus, macular and optic nerve head OCT imaging was unreliable. Cataract surgery with intraocular lens implantation (SA60AT) was performed sequentially in both eyes based on calculations obtained from swept-source OCT biometry. At 3 months postoperatively, best-corrected visual acuity improved to 20/140 in both eyes. Genetic testing identified a PAX6 mutation (11p13). The patient remains under multidisciplinary follow-up including glaucoma, cornea, strabismus, genetics, and visual rehabilitation department.

This case illustrates that aniridia demands a structured and proactive diagnostic approach beyond confirming iris hypoplasia. Comprehensive assessment of visual function, corneal status, lens opacity, anterior segment development, glaucoma, intraocular pressure, and foveal development is critical, together with genetic testing to identify PAX6-related alterations and associated syndromes. Long-term visual prognosis depends on early detection of complications and coordinated multidisciplinary management. Family screening and genetic counseling are fundamental to identify at-risk relatives and prevent delayed diagnosis. Lifelong surveillance is essential given the progressive nature of several associated complications.