Eight-Year Follow-Up of Axenfeld-Rieger Syndrome with Turner Syndrome
| Autor: | Ilgaz Sagdic Yalvac, Karadeniz N, I. Kocak-midillioğlu, Sunay Duman, A.G. Koçak-altintas |
|---|---|
| Rok vydání: | 2003 |
| Předmět: |
Adult
medicine.medical_specialty Intraocular pressure Eye disease Gonioscopy Iris Turner Syndrome Drusen 03 medical and health sciences 0302 clinical medicine Anterior Eye Segment Ophthalmology Internal medicine Turner syndrome medicine Humans Abnormalities Multiple Eye Abnormalities hirsutism Optic Disk Drusen business.industry Vision Tests Blind spot Syndrome General Medicine medicine.disease Polycystic ovary Endocrinology Karyotyping 030221 ophthalmology & optometry Female Sensorineural hearing loss Visual Fields business 030217 neurology & neurosurgery Follow-Up Studies |
| Zdroj: | European Journal of Ophthalmology. 13:580-583 |
| ISSN: | 1724-6016 1120-6721 |
| DOI: | 10.1177/112067210301300613 |
| Popis: | PURPOSE. To report a case of Turner syndrome associated with iridogoniodysgenesis accompanied by somatic malformations. METHODS. A 29-year-old woman underwent complete ophthalmologic and general examination. Incomplete development of the angle with iris stromal hypoplasia and prominent posterior embryotoxon with iris adhesions were noted. Disc drusen was confirmed by ultrasonography. Visual fields were normal other than bilateral enlargement of blind spot. Intraocular pressure was under 21 mm Hg during 8 years of follow-up without medication. The patient had atrial septal defect, sensorineural hearing loss, polycystic ovaries, hirsutism, glomerulosclerosis, dental anomalies, and low intelligence. A chromosome analysis revealed that she had mosaic Turner syndrome with a 45,X/46,XX karyotype. CONCLUSIONS. Few reported cases in the literature describe the coexistence of Axenfeld-Rieger syndrome and Turner syndrome mosaicism. Somatic and anterior chamber malformations in this patient represent a developmental disorder of the neural crest. General examination and chromosomal analysis are indicated in patients presenting with anterior chamber dysgenesis. |
| Databáze: | OpenAIRE |
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