Aniridia, Congenital Glaucoma, and Hydrocephalus in a Male Infant with Ring Chromosome 6

Overview

Journal Am J Med Genet

Specialty Genetics

Date 1986 Oct 1

PMID 3777023

Citations 7

Authors

H Levin

R Ritch

R Barathur

M W Dunn

C Teekhasaenee

S Margolis

Affiliations

Soon will be listed here.

Abstract

A premature infant with unilateral aniridia and congenital ectropion uveae, contralateral Rieger anomaly, bilateral congenital glaucoma, and hydrocephalus was found to have ring chromosome 6. The findings are consistent with multiple manifestations of a neural crest-derived maldevelopment of the anterior segment and central nervous system. Comparison with the 14 previously reported cases of ring chromosome 6 illustrates the phenotypic variability of this syndrome.

Citing Articles

Axenfeld-Rieger syndrome: A systematic review examining genetic, neurological, and neurovascular associations to inform screening.

Muzyka L, Winterhalter E, LoPresti M, Scoville J, Bohnsack B, Lam S Heliyon. 2023; 9(7):e18225.

PMID: 37539177 PMC: 10395477. DOI: 10.1016/j.heliyon.2023.e18225.

CO Laser-Assisted Sclerectomy . Microcatheter-Assisted Trabeculotomy in the Management of a Bilateral Congenital Ectropion Uveae With Glaucoma: A Case Report and Literature Review.

Chen M, Li Y, Cheng B, Zhang Q, Liu X, Wang K Front Med (Lausanne). 2022; 9:902716.

PMID: 35665343 PMC: 9160387. DOI: 10.3389/fmed.2022.902716.

Primary iris pigment epithelial hyperplasia and glaucoma.

Bansal A, Luck J Br J Ophthalmol. 2002; 86(3):352-3.

PMID: 11864899 PMC: 1771036. DOI: 10.1136/bjo.86.3.352.

Mutations of the forkhead/winged-helix gene, FKHL7, in patients with Axenfeld-Rieger anomaly.

Mears A, Jordan T, Mirzayans F, Dubois S, Kume T, Parlee M Am J Hum Genet. 1998; 63(5):1316-28.

PMID: 9792859 PMC: 1377542. DOI: 10.1086/302109.

Autosomal dominant Axenfeld-Rieger anomaly maps to 6p25.

Gould D, Mears A, PEARCE W, Walter M Am J Hum Genet. 1997; 61(3):765-8.

PMID: 9326342 PMC: 1715932.