Ultrabiomicroscopic-Histopathologic Correlations in Individuals with Autosomal Dominant Congenital Microcoria: Three-Generation Family Report

There is no author summary for this article yet. Authors can add summaries to their articles on ScienceOpen to make them more accessible to a non-specialist audience.

Abstract

Background

Congenital microcoria (CMC) is due to a maldevelopment of the dilator pupillae muscle of the iris, with a pupil diameter of less than 2 mm. It is associated with juvenile open angle glaucoma and myopia. We report on a three-generation Mexican-Mestizo family with CMC. The eldest member's iris biopsy proved muscle anomalies. Further, we analyzed novel ultrasound biomicroscopy findings in the family members who did not require surgery.

Patients and Methods

A 62-year-old woman, her 41-year-old son and her 9-year-old grandson affected with microcoria since birth, documented by clinical examination and ultrasound biomicroscopy. The eldest member underwent phacoemulsification, and a biopsy of the iris and the anterior capsule of the lens was taken.

Results

Ultrasound biomicroscopy confirmed the CMC diagnosis showing iris thinning and a pupil diameter of less than 2 mm. Histopathology of the iris showed a significant reduction of smooth muscle cells, but no alterations of the anterior lens capsule.

Discussion

Although CMC is a rare disorder, which is due to a maldevelopment of the dilator pupillae muscle of the iris, it could be associated with juvenile open angle glaucoma and myopia; therefore, precise diagnosis is required. Ultrasound biomicroscopy could be a great option to confirm the disorder.

Related collections

Most cited references 11

Record: found
Abstract: found
Article: not found

Ophthalmological aspects of Pierson syndrome.

Kevin D. Fowler, Iwona Maruniak-Chudek, Janusz Swietlinski … (2008)

To study the ocular phenotype of Pierson syndrome and to increase awareness among ophthalmologists of the diagnostic features of this condition. Retrospective, observational case series. A multicenter study of 17 patients with molecularly confirmed Pierson syndrome. The eye findings were reviewed and compared to pertinent findings from the literature. The most characteristic ocular anomaly was microcoria. A wide range of additional abnormalities were found, including posterior embryotoxon, megalocornea, iris hypoplasia, cataract, abnormal lens shape, posterior lenticonus, persistent fetal vasculature, retinal detachment, variable axial lengths, and glaucoma. There was high interocular and intrafamilial variability. Loss-of-function mutations in laminin beta2 (LAMB2) cause a broad range of ocular pathology, emphasizing the importance of laminin beta2 in eye development. Patients with Pierson syndrome can initially present with ocular signs alone. In newborns with marked bilateral microcoria, Pierson syndrome should be considered and renal function investigated.

0 comments Cited 20 times – based on 0 reviews      Review now

Bookmark

Record: found
Abstract: found
Article: not found

Genetic homogeneity for inherited congenital microcoria loci in an Asian Indian pedigree.

Vedam L. Ramprasad, Sarangapani Sripriya, George Ronnie … (2004)

Congenital microcoria is a rare autosomal dominant developmental disorder of the iris associated with myopia and juvenile open angle glaucoma. Linkage to the chromosomal locus 13q31-q32 has previously been reported in a large French family. In the current study, a three generation Asian Indian family with 15 congenital microcoria (pupils with a diameter A) resulting in a Q48H substitution in exon 1 of the MYOC gene was observed in five of the eight glaucoma patients, but not in unaffected family members and 100 unrelated controls. We have confirmed the localization of the congenital microcoria locus (MCOR) to 13q31-q32 in a large Asian Indian family and conclude that current information suggests this is a single locus disorder and genetically homogeneous. When combined with the initial linkage paper our haplotype and linkage data map the MCOR locus to a 6-7 cM region between D13S265 and D13S1280. The DCT locus, a member of the tyrosinase family involved in pigmentation, maps within this region. Data presented here supports the hypothesis that congenital microcoria is a potential risk factor for glaucoma, although this observation is complicated by the partial segregation of MYOC Q48H (1q24.3-q25.2), a mutation known to be associated with glaucoma in India. Fine mapping and candidate gene analysis continues with the hope that characterizing the micocoria gene will lead to a better understanding of microcoria and glaucoma causation. The relationship between microcoria, glaucoma, and the MYOC Q48H mutation in this family is discussed.

0 comments Cited 5 times – based on 0 reviews      Review now

Bookmark

Record: found
Abstract: found
Article: not found

Mapping of a congenital microcoria locus to 13q31-q32.

Benoit Le Goff, Steven Kobetz, J L Dufier … (1998)

Congenital microcoria is an autosomal dominant disorder characterized by a pupil with a diameter <2 mm. It is thought to be due to a maldevelopment of the dilator pupillae muscle of the iris, and it is associated with juvenile-onset glaucoma. A total genome search for the location of the congenital microcoria gene was launched in a single large family. We found linkage between the disease and markers located on 13q31-q32 (Zmax = 9.79; theta = 0). Haplotype analysis narrowed the linked region to an interval <8 cM between markers D13S1239 proximally and D13S1280 distally.

0 comments Cited 4 times – based on 0 reviews      Review now

Bookmark

All references

Author and article information

Journal

Journal ID (nlm-ta): Case Report Ophthalmol

Journal ID (publisher-id): COP

Title: Case Reports in Ophthalmology

Publisher: S. Karger AG (Allschwilerstrasse 10, P.O. Box · Postfach · Case postale, CH-4009, Basel, Switzerland · Schweiz · Suisse, Phone: +41 61 306 11 11, Fax: +41 61 306 12 34, karger@karger.ch )

ISSN (Electronic): 1663-2699

Publication date Collection: May-Aug 2011

Publication date (Electronic): 13 May 2011

Publication date PMC-release: 13 May 2011

Volume: 2

Issue: 2

Pages: 160-165

Affiliations

[1] ^aAnterior Segment Department, Instituto de Oftalmología Fundación Conde de Valenciana, Mexico City, Mexico

[2] ^bOcular Imaging Department, Instituto de Oftalmología Fundación Conde de Valenciana, Mexico City, Mexico

[3] ^cOphthalmic Pathology Service, APEC, Hospital ‘Dr. Luis Sanchez Bulnes’, Mexico City, Mexico

Author notes

*Arturo Ramirez-Miranda, MD, Anterior Segment Department Instituto de Oftalmología Fundación Conde de Valenciana, Chimalpopoca 14, Colonia Obrera, Mexico City 06800 (Mexico), Tel. +52 5555 884 600, ext. 3714, E-Mail arturorammir@ 123456gmail.com

Article

Publisher ID: cop0002-0160

DOI: 10.1159/000328751

PMC ID: 3104862

PubMed ID: 21677884

SO-VID: 9dfe9559-4b8a-4ca3-9be2-b0a55be5c58e

License:

This is an Open Access article distributed under the terms of the Creative Commons Attribution-Noncommercial-No-Derivative-Works License ( http://creativecommons.org/licenses/by-nc-nd/3.0/). Users may download, print and share this work on the Internet for noncommercial purposes only, provided the original work is properly cited, and a link to the original work on http://www.karger.com and the terms of this license are included in any shared versions.

History

Page count

Figures: 3, References: 11, Pages: 6

Comments

Comment on this article

scite_

Cited by 2

See all cited by

Most referenced authors 74

See all reference authors

- Version 1

Are you tired of sifting through news that doesn't interest you?
Personalize your Karger newsletter today and get only the news that matters to you!

Sign up