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[Variability of clinical manifestations in the family with Axenfeld-Rieger syndrome].
Klin Oczna. 2007; 109(7-9):321-6.KO

Abstract

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.

Authors+Show Affiliations

Katedry i Kliniki Okulistyki II Wydziatu Lekarskiego Akademii Medycznej w Warszawie.No affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
English Abstract
Journal Article

Language

pol

PubMed ID

18260289

Citation

Kamińska, Anna, et al. "[Variability of Clinical Manifestations in the Family With Axenfeld-Rieger Syndrome]." Klinika Oczna, vol. 109, no. 7-9, 2007, pp. 321-6.
Kamińska A, Sokołowska-Oracz A, Pawluczyk-Dyjecińska M, et al. [Variability of clinical manifestations in the family with Axenfeld-Rieger syndrome]. Klin Oczna. 2007;109(7-9):321-6.
Kamińska, A., Sokołowska-Oracz, A., Pawluczyk-Dyjecińska, M., & Szaflik, J. P. (2007). [Variability of clinical manifestations in the family with Axenfeld-Rieger syndrome]. Klinika Oczna, 109(7-9), 321-6.
Kamińska A, et al. [Variability of Clinical Manifestations in the Family With Axenfeld-Rieger Syndrome]. Klin Oczna. 2007;109(7-9):321-6. PubMed PMID: 18260289.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - [Variability of clinical manifestations in the family with Axenfeld-Rieger syndrome]. AU - Kamińska,Anna, AU - Sokołowska-Oracz,Anna, AU - Pawluczyk-Dyjecińska,Martyna, AU - Szaflik,Jacek P, PY - 2008/2/12/pubmed PY - 2008/4/2/medline PY - 2008/2/12/entrez SP - 321 EP - 6 JF - Klinika oczna JO - Klin Oczna VL - 109 IS - 7-9 N2 - 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. SN - 0023-2157 UR - https://www.unboundmedicine.com/medline/citation/18260289/[Variability_of_clinical_manifestations_in_the_family_with_Axenfeld_Rieger_syndrome]_ L2 - http://www.diseaseinfosearch.org/result/9542 DB - PRIME DP - Unbound Medicine ER -