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Eight-year follow-up of Axenfeld-Rieger syndrome with Turner syndrome.
Eur J Ophthalmol. 2003 Jul; 13(6):580-3.EJ

Abstract

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.

Authors+Show Affiliations

Department of Ophthalmology, S.B. Ankara Training and Research Hospital, Ankara, Turkey. inci@softhome.netNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

12948319

Citation

Koçak-Midillioglu, I, et al. "Eight-year Follow-up of Axenfeld-Rieger Syndrome With Turner Syndrome." European Journal of Ophthalmology, vol. 13, no. 6, 2003, pp. 580-3.
Koçak-Midillioglu I, Karadeniz N, Yalvaç I, et al. Eight-year follow-up of Axenfeld-Rieger syndrome with Turner syndrome. Eur J Ophthalmol. 2003;13(6):580-3.
Koçak-Midillioglu, I., Karadeniz, N., Yalvaç, I., Koçak-Altintas, A. G., & Duman, S. (2003). Eight-year follow-up of Axenfeld-Rieger syndrome with Turner syndrome. European Journal of Ophthalmology, 13(6), 580-3.
Koçak-Midillioglu I, et al. Eight-year Follow-up of Axenfeld-Rieger Syndrome With Turner Syndrome. Eur J Ophthalmol. 2003;13(6):580-3. PubMed PMID: 12948319.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Eight-year follow-up of Axenfeld-Rieger syndrome with Turner syndrome. AU - Koçak-Midillioglu,I, AU - Karadeniz,N, AU - Yalvaç,I, AU - Koçak-Altintas,A G, AU - Duman,S, PY - 2003/9/2/pubmed PY - 2003/12/3/medline PY - 2003/9/2/entrez SP - 580 EP - 3 JF - European journal of ophthalmology JO - Eur J Ophthalmol VL - 13 IS - 6 N2 - 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. SN - 1120-6721 UR - https://www.unboundmedicine.com/medline/citation/12948319/Eight_year_follow_up_of_Axenfeld_Rieger_syndrome_with_Turner_syndrome_ L2 - https://journals.sagepub.com/doi/10.1177/112067210301300613?url_ver=Z39.88-2003&rfr_id=ori:rid:crossref.org&rfr_dat=cr_pub=pubmed DB - PRIME DP - Unbound Medicine ER -