Background: Aniridia typically appears as a familial condition with autosomal dominant inheritance but can present as an isolated disease or sporadically in association with several syndromes. In this report we describe the various ocular manifestations of aniridia as well as the association of familial aniridia with two different ocular and systemic abnormalities present across three generations in two different families.
Methods: Descriptive case series of 33 patients (66 eyes) with aniridia. A full eye examination was performed at the beginning of the study, including past medical history, family history and type of inheritance, assessment for fixation pattern and presence of nystagmus, visual acuity testing, refraction, slit-lamp examination, gonioscopy, fundus examination with pupil dilation and anterior segment photography; additional glaucoma testing was done if the patient had high intraocular pressure. Patients were followed for at least 2 years. The interval between follow-up visits, which included gonioscopy and fundus examination with pupil dilation, depended on the findings in each case. A urology consultation was requested in all sporadic aniridia cases; consultations in psychiatry and gynecology were requested on the basis of the medical history or clinical suspicion during the ophthalmologic examination.
Results: Ten patients (30%) had sporadic aniridia, with no previous family history; Wilms' tumour did not develop in any of them during the follow-up period. In the autosomal dominant group, ocular and systemic findings present in combination with aniridia were observed in 20 patients in the two families. Family I had aniridia and developmental delay or behavioural disorders in three generations as well as high myopia (greater than 6.00 dioptres) in all affected adults. Family 2 presented a wide phenotypic variability of aniridia with myopia in three generations. Open-angle glaucoma developed in three young adults in this family, and two members were found to have gynecologic abnormalities (hypoplastic uterus and imperforate vagina). Myopia was the most prevalent refractive error (64%) in the 33 patients. Refractive correction significantly improved the visual acuity in half of these cases. Glaucoma was present in 10 patients (30%) and was the main cause of vision loss, provoking blindness in two cases (6%). Affected patients manifested progressive angle closure or presented with open-angle glaucoma.
Interpretation: Ophthalmologists should consider aniridia in patients with unusual iris malformations. Examination of family members may be key in making the diagnosis. Any refractive error should be corrected, as this may improve vision. All aniridic patients should be screened regularly for glaucoma, as this condition may occur at any age and can lead to permanent vision loss. Systemic and ocular associations should be considered as they may present in combination with anirida. In our series, developmental delay or behavioural disorders and myopia were associated conditions.