A Cross-sectional Analysis of 556 Eyes Entering the Homburg Aniridia Centre

Overview

Journal Klin Monbl Augenheilkd

Publisher Thieme

Specialty Ophthalmology

Date 2023 Aug 30

PMID 37647922

Authors

Fabian Norbert Fries

Annamaria Naray

Cristian Munteanu

Tanja Stachon

Neil Lagali

Berthold Seitz

Nora Szentmary

Barbara Kasmann-Kellner

Affiliations

Soon will be listed here.

Abstract

Purpose: Congenital aniridia is a severe malformation of almost all eye segments. In addition, endocrinological, metabolic, and central nervous systems diseases may be present. In order to develop better treatment options for this rare disease, an aniridia center must be established. The purpose of this work is to summarize ophthalmic findings of aniridia subjects examined at the Department of Ophthalmology, Saarland University Medical Center in Homburg.

Methods: Our retrospective single-center study included patients who underwent a comprehensive ophthalmic examination through the head of the KiOLoN ("Kinderophthalmologie", Orthoptics, Low Vision and Neuroophthalmology) Unit of the department between June 2003 and January 2022. Data at the first examination time point have been included.

Results: Of 286 subjects, 556 eyes of (20.1 ± 20.1 years; 45.5% males) were included. There was nystagmus in 518 (93.7%) eyes, and strabismus in 327 (58.8%) eyes. There were 436 (78.4%) eyes with age-appropriate axial length, 104 (18.7%) eyes with microphthalmos, and 13 (2.3%) eyes with buphthalmos. There was iris malformation with atypical coloboma in 34 eyes (6.1%), more than 6 clock hours of iris remnants in 61 eyes (10.9%), less than 6 clock hours of iris remnants in 96 eyes (17.2%), and complete aniridia in 320 (57.5%) eyes. The patients were graded according to the following aniridia-associated keratopathy (AAK) stages: Stage 0 (96 eyes [17.2%], no keratopathy), Stage 1 (178 eyes [32.0%]), Stage 2 (107 eyes [19.2%]), Stage 3 (67 eyes [12.0%]), Stage 4 (62 eyes [11.1%]), Stage 5 (45 eyes [8.0%]). There was secondary glaucoma in 307 (55.5%), macular hypoplasia in 395 (71.4%), and congenital optic nerve head pathology in 223 (40.3%) eyes. The iris malformation type was significantly positively correlated with AAK stage, lens properties, presence of glaucoma, congenital macular, and optic nerve head properties (p < 0.001 for all), while complete aniridia showed the most complications.

Conclusions: At the Homburg Aniridia Center, the most common ophthalmic signs in congenital aniridia were AAK, iris malformation, cataract, and macular hypoplasia. The iris malformation type may indicate future expression of AAK, cataract, and glaucoma development and it is correlated with a congenital optic nerve head and macular pathology. Our registry will support further detailed longitudinal analysis of ophthalmic and systemic diseases of aniridia subjects during long-term follow-up.

Citing Articles

[Complete congenital aniridia].

Kohlhas P, Kahlert J, Seitz B, Szentmary N, Obst J, Fries F Ophthalmologie. 2025; .

PMID: 39937215 DOI: 10.1007/s00347-025-02205-x.

Systemic Diseases in Patients with Congenital Aniridia: A Report from the Homburg Registry for Congenital Aniridia.

Obst J, Fries F, Amini M, Naray A, Munteanu C, Stachon T Ophthalmol Ther. 2025; 14(2):433-445.

PMID: 39755898 PMC: 11754556. DOI: 10.1007/s40123-024-01084-w.

Epidemiology of Gene Pathogenic Variants and Expected Prevalence of -Associated Congenital Aniridia across the Russian Federation: A Nationwide Study.

Vasilyeva T, Marakhonov A, Voskresenskaya A, Kadyshev V, Sukhanova N, Minzhenkova M Genes (Basel). 2023; 14(11).

PMID: 38002984 PMC: 10671545. DOI: 10.3390/genes14112041.

Co-Occurrence of Congenital Aniridia Due to Nonsense Variant p.(Cys94*) and Chromosome 21 Trisomy in the Same Patient.

Vasilyeva T, Sukhanova N, Marakhonov A, Kuzina N, Shilova N, Kadyshev V Int J Mol Sci. 2023; 24(21).

PMID: 37958513 PMC: 10650867. DOI: 10.3390/ijms242115527.

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