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NR 7-9/2007
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Zmienność obrazu
klinicznego w rodzinie z zespołem Axenfelda–Riegera
Variability of clinical
manifestations in the family with Axenfeld–Rieger syndrome
Anna Kamińska, Anna Sokołowska-Oracz,
Martyna Pawluczyk-Dyjecińska, Jacek P. Szaflik
Z Katedry i Kliniki Okulistyki II Wydziału Lekarskiego Akademii
Medycznej w Warszawie
Z Samodzielnego Publicznego Klinicznego Szpitala Okulistycznego
w Warszawie
Kierownik: prof. dr hab. n. med. Jerzy Szaflik |
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| Summary: |
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. |
| Słowa kluczowe: |
zespół Axenfelda–Riegera,
jaskra, zanik tęczówki, mutacje genowe. |
| Key words: |
Axenfeld–Rieger syndrome,
glaucoma, iris hypoplasia, gene mutations. |
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