|
Betegség leírása |
Dysgenesis mesodermalis corneae et iridis
Betegség megnevezésének szinonímái:
- Rieger syndrome
- Rieger syndrome (RGS)
- Rieger anomaly
- Rieger malformation
- Dysgenesis mesostromalis anterior
- Dysplasia marginalis posterior
- Goniodysgenesis
- Iridocorneal mesodermal dysgenesis
- Iridodental dysplasia
- Iridogoniodysgenesis with somatic anomalies
- Mesodermal dysgenesis of anterior segment
- Rieger's syndrome
- Axonfeld's posterior embryotoxon-juvenile glaucoma
- Rieger's anomaly
- Rieger's disease
- Rieger's malformation
- Geniodysgenesis
- Iridocorneal mesodermal dysplasia
- Iris dysplasia-hypodonatia-myotonic dystrophy syndrome
- Dysplasia-hypertelorism-psychomotor retardation syndrome
- Rieger-betegség
- Rieger-szindróma
- Szaruhártya és szivárványhártya középső csíralemezének fejlődési zavara
BNO:
Alapadatok:
- Férfi: Bármely életkorban előfordulhat
- Nő: Bármely életkorban előfordulhat
Előzmények:
- Öröklődés, családi halmozódás
-
Autosomalis domináns öröklődés
Gyakoribb panaszok, tünetek:
- Fej
-
Helyenként nem nőtt ki fog
- Szem és látás
-
Fénykerülés
-
Veleszületetten rossz a látás
-
Távolálló szemek
-
Rosszul lát
Fizikális vizsgálatok:
- Kültakaró
-
Maxilla hypoplasia mindkét oldalon
-
Hypodontia
-
Microdontia
- Szem
-
Corectopia
-
Ectropion uveae
-
Hypertelorismus ocularis
-
Pseudopolycoria
Speciális, műszeres vizsgálatok:
- Szemészeti vizsgálatok
-
Réslámpa vizsgálat
-
Gonioscopia
-
Vörös visszfény vizsgálata
Gyakoribb szövődmények:
- Szem és függelékei
-
Elsődleges zárt-zugú zöldhályog
Gyógyszeres terápia:
Kapcsolódó oldalak (automatikus legyűjtés eredménye):
-
Angol
-
FOXC1 GeneCard
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PITX2 GeneCard
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PITX2 GeneCard
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PITX2 GeneCard
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PITX2 GeneCard
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PITX2 GeneCard
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Healthwise Knowledgebase - P4Healthcare (Oncology)
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PubMed Result
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Healthwise Knowledgebase - P4Healthcare (Oncology)
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MakingContact.org - Coloboma
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S
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