[Variability of clinical manifestations in the family with Axenfeld-Rieger syndrome]. / Zmiennosc obrazu klinicznego w rodzinie z zespolem Axenfelda-Riegera.

PURPOSE: Axenfeld-Rieger syndrome is an ocular anterior segment dysgenesis, autosomal dominantly inherited, commonly associated with glaucoma and systemic anomalies. This study presents various clinical manifestations of Axenfeld-Rieger syndrome within one family. MATERIAL AND METHODS: Three members of the family: patient 1--father (54 years old), patient 2--son (31 years old), and patient 3--daughter (30 years old), underwent complete ophthalmic examination, including standard glaucoma diagnostics. Additional investigations, such as: ultrasound biomicroscopy (UBM, Opticon 2000), corneal topography Orbscan II (Bausch & Lomb, Inc., Rochester, N.Y., USA), corneal confocal microscopy ConfoScan 3 (Nidek Technologies), central corneal thickness measurements with optical low-coherence reflectometer (OLCR, pachymeter Haag-Streit), were carried out. It was impossible to perform complete eye examination in one case (patient 1) because of severity of ocular changes. RESULTS: All family members described had iris abnormalities (hypoplastic iris stroma) and early-onset glaucoma, however severity of symptoms were different in each case. The most advanced disease was recognized in patient 1. Other findings included: posterior embryotoxon (patients 2 and 3), iridocorneal angle abnormalities (patients 2 and 3), microcornea (patient 2) and extraocular features (patients 1 and 2): dental anomalies (microdontia and hypodontia), maxillary hypoplasia and periumbilical skin fold. All of these symptoms supported the diagnosis of Axenfeld-Rieger syndrome. In addition, we also diagnosed keratoconus in patient 2 and hypermetropia, strabismus and corneal scar in patient 3. CONCLUSIONS: Reported cases of Axenfeld-Rieger syndrome demonstrate phenotypic variability of the disease among family members, which is characteristic for this disorder and can cause diagnostic problems.

[Retrospective evaluation of risk factors for graft rejection in patients after corneal transplantation performed at the Eye Clinic in the years 2001-2003]. / Retrospektywna ocena czynników ryzyka choroby przeszczepu u pacjentow po przeszczepie rogówki wykonanym w Klinicznym Szpitalu Okulistycznym w latach 2001-2003.

The aim of the study was retrospective evaluation of risk factors for graft rejection in patients after corneal transplantation performed in Department of Ophthalmology in years 2001-2003. 349 cases of penetrating keratoplasty, lamellar, or penetrating with limbal graft, were analyzed. Deep stromal vascularization, anterior synechiae, the use of topical glaucoma medications, previous inflammations in anterior segment of the eye and surgical procedures were evaluated. Period from transplantation to rejection, number of relapses of rejection and changes of visual acuity were also estimated. Corneal graft rejection occurred more frequently in patients with one or more risk factors, particularly deep stromal vascularization, the use of topical glaucoma medications and in young age.

[Immunological aspects of corneal graft rejection and own experience in immunosuppressive therapy in high risk patients]. / Immunologiczne aspekty choroby przeszczepu oraz doswiadczenia wlasne ze stosowania terapii immunosupresyjnej u pacjentów wysokiego ryzyka.

The aim of the study was to present factors responsible for immune privilege of corneal graft, pathogenesis of immunological corneal graft rejection, and the influence of immunosuppressive therapy on keeping clarity of corneal graft. We also present retrospective evaluation of prophylactic immunosuppressive therapy in high-risk patients and in cases of graft rejection, in group of patients after corneal transplantation performed in Department of Ophthalmology in years 2001-2003. 349 cases of penetrating keratoplasty, lamellar or penetrating with limbal transplantation were analyzed. Condition requiring keratoplasty, surgical procedures, profile of immunosuppressive therapy, number of recurrences of corneal graft rejection and changes of visual acuity were evaluated. Immunosuppressive therapy with oral corticosteroids and systemic Cyclosporine allow to keep clarity of corneal graft and useful visual acuity in 60% cases of high-risk patients.