Eight-year follow-up of Axenfeld-Rieger syndrome with Turner syndrome

• Published in: European journal of ophthalmology Vol. 13; no. 6; pp. 580 - 583
• Main Authors: KOCAK-MIDILLIOGLU, I, KARADENIZ, N, YALVAC, I, KOCAK-ALTINTAS, A. G, DUMAN, S
• Format: Journal Article
• Language: English
• Published: Milano Wichtig 01-07-2003
• Subjects: Abnormalities, Multiple; Adult; Anterior Eye Segment - abnormalities; Biological and medical sciences; Chromosome aberrations; Complex syndromes; Eye Abnormalities - complications; Eye Abnormalities - diagnosis; Female; Follow-Up Studies; Gonioscopy; Humans; Iris - abnormalities; Karyotyping; Medical genetics; Medical sciences; Optic Disk Drusen; Syndrome; Turner Syndrome - complications; Vision Tests; Visual Fields; Chromosomal aberration; Human; Dysgenesia; Sexual differentiation disorder; Turner syndrome; Congenital disease; Syndrome; Female genital diseases; Case study; Symptomatology; Concomitant disease; Axenfeld syndrome; Eye disease; Malformation; Follow up study; Gonad; Turner syndrome mosaicism; Female; Axenfeld-Rieger syndrome
• ISSN: 1120-6721; 1724-6016
• DOI: 10.1177/112067210301300613

To report a case of Turner syndrome associated with iridogoniodysgenesis accompanied by somatic malformations.
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.
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.