gms | German Medical Science

The Axenfeld- Rieger- Syndrome (ARS), for which mutations in two genes (PITX2, FOXC1) are known shows genetic and morphologic heterogeneity, and is associated with glaucoma in 50% of the patients. Do patients with a family history (FH) of ARS or patients with hypoplasia of the iris have a worse glaucoma prognosis or differences in the age at diagnosis compared to patients without a FH of ARS or patients without irishypoplasia?

Ocular- dental- and systemic- anomalies, maximum IOP, FH of ARS or glaucoma, visual field loss (VFL) and age at diagnosis of 26 consecutively examined patients with ARS and elevated IOP were evaluated.

In 65,4% of the patients hypoplasia of the iris, in 23% iris-hole formation and in 38,5% corectopia were found. 19,2% of the patients had dental anomalies, 11,5% maxillary hypoplasia, 7,6% a failure of periumbilical skin to involute, 11,5% anomalies of the heart and 3,8% hypospadia.12 out of 26 Patients (46,2%) had a FH of ARS, 15 patients (57,7%) had glaucoma, 10 out of these (38,5%) had a combination of ARS and glaucoma in their FH. Patients having ARS in their FH did not show significant differences in IOPmax, frequency of severe VFL, irishypoplasia, glaucoma surgery and the age at diagnosis compared to patients without ARS and without glaucoma in their FH. 17 patients presenting hypoplasia of the iris did not display significant differences in IOPmax, frequency of glaucoma surgery, severe VFL and age at diagnosis, compared to 9 patients without hypoplasia of the iris (7,89±9,8 yrs. vs. 5,4±10 yrs.).

Patients with hypoplasia of the iris and patients with ARS in FH do not show a worse glaucoma-prognosis and not an earlier onset of the disease than patients without irishypoplasia and patients without ARS in the FH respectively.