PMID: 8942889Nov 1, 1996Paper

Autosomal-dominant iridogoniodysgenesis and Axenfeld-Rieger syndrome are genetically distinct

Ophthalmology
M A WalterW G Pearce

Abstract

To determine whether there is a locus for iridogoniodysgenesis (IGD)/ familial iris hypoplasia in the region of the known Axenfeld-Rieger syndrome (ARS) locus at 4q25 and to determine the ocular phenotype within the autosomal-dominant iris hypoplasia group of disorders. Clinical examinations were performed on 27 members, with 11 affected from one family in which the IGD occurred in association with the nonocular features of ARS, and on 70 members with 30 affected from a second IGD family with ocular features only. Family members were genotyped for markers within the 4q25 region known to contain a locus for ARS. LOD scores were calculated with the MLINK option of the LINKAGE program. The iris hypoplasia in each IGD family was similar. In the IGD family with only ocular features (IGD anomaly), however, a majority of those affected had a goniodysgenesis with excess tissue in the angle and anomalous angle vascularity. These findings were absent in the IGD family with syndromic features (IGD syndrome). Linkage to the 4q25 region was excluded in the IGD anomaly family, whereas the family with IGD syndrome was found to be completely linked to the 4q25 region (peak LOD score with D4S407 of 7.827 at theta = 0.00). The authors' results s...Continue Reading

References

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Citations

Sep 27, 2000·American Journal of Ophthalmology·W L Alward
Apr 3, 1999·Clinical Genetics·J S Friedman, M A Walter
Aug 13, 2008·Human Molecular Genetics·Bhaskar ChandaOrdan J Lehmann
Feb 25, 2010·Clinical Dysmorphology·Mehmet Necdet Akkus, Atilla Argin
Jun 9, 1998·Human Molecular Genetics·S C KulakM A Walter
Oct 10, 2013·American Journal of Medical Genetics. Part a·Anuradha GaneshAlex V Levin
Dec 12, 2012·Veterinary Ophthalmology·Hassan HamoudiSteffen Heegaard
Apr 29, 2006·Survey of Ophthalmology·Faisal IdreesPeng T Khaw
Oct 27, 1997·American Journal of Human Genetics·D B GouldM A Walter
Sep 9, 2020·American Journal of Medical Genetics. Part C, Seminars in Medical Genetics·Michael A WalterGavin Arno
Sep 2, 2003·European Journal of Ophthalmology·I Koçak-MidilliogluS Duman
May 3, 2020·BMC Ophthalmology·Emily M ZepedaBrenda L Bohnsack
May 20, 1998·Ophthalmic Genetics·I M MacDonaldM A Musarella
Oct 26, 1999·Journal of AAPOS : the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus·E I Traboulsi

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