Literature DB >> 3785880

Hereditary cases of congenital microcoria and goniodysgenesis.

V Mazzeo, G Gaiba, A Rossi.   

Abstract

Presented here are hereditary cases of congenital microcoria associated with goniodysgenesis. The proband was a 64 year-old woman with poor development of collarettes and crypts of the iris. Gonioscopic examination revealed anterior chamber irregularities. Three out of six of her siblings suffered from the same anterior chamber anomaly but did not have glaucoma. All the affected members had microcoria associated with goniodysgenesis which was transmitted in an autosomal dominant pattern.

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Mesh:

Year:  1986        PMID: 3785880     DOI: 10.3109/13816818609076120

Source DB:  PubMed          Journal:  Ophthalmic Paediatr Genet        ISSN: 0167-6784


  6 in total

1.  Genotypic and phenotypic heterogeneity in familial microcoria.

Authors:  F D Bremner; H Houlden; S E Smith
Journal:  Br J Ophthalmol       Date:  2004-04       Impact factor: 4.638

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

Authors:  C Rouillac; O Roche; D Marchant; L Bachner; A Kobetz; P J Toulemont; C Orssaud; M Urvoy; S Odent; B Le Marec; M Abitbol; J L Dufier
Journal:  Am J Hum Genet       Date:  1998-05       Impact factor: 11.025

3.  Megalocornea. Clinical and genetic aspects.

Authors:  F M Meire
Journal:  Doc Ophthalmol       Date:  1994       Impact factor: 2.379

4.  Submicroscopic deletions at 13q32.1 cause congenital microcoria.

Authors:  Lucas Fares-Taie; Sylvie Gerber; Akihiko Tawara; Arturo Ramirez-Miranda; Jean-Yves Douet; Hannah Verdin; Antoine Guilloux; Juan C Zenteno; Hiroyuki Kondo; Hugo Moisset; Bruno Passet; Ken Yamamoto; Masaru Iwai; Toshihiro Tanaka; Yusuke Nakamura; Wataru Kimura; Christine Bole-Feysot; Marthe Vilotte; Sylvie Odent; Jean-Luc Vilotte; Arnold Munnich; Alain Regnier; Nicolas Chassaing; Elfride De Baere; Isabelle Raymond-Letron; Josseline Kaplan; Patrick Calvas; Olivier Roche; Jean-Michel Rozet
Journal:  Am J Hum Genet       Date:  2015-03-12       Impact factor: 11.025

Review 5.  Congenital Microcoria: Clinical Features and Molecular Genetics.

Authors:  Clémentine Angée; Brigitte Nedelec; Elisa Erjavec; Jean-Michel Rozet; Lucas Fares Taie
Journal:  Genes (Basel)       Date:  2021-04-22       Impact factor: 4.096

6.  Ultrabiomicroscopic-histopathologic correlations in individuals with autosomal dominant congenital microcoria: three-generation family report.

Authors:  Arturo Ramirez-Miranda; Juan M Paulin-Huerta; Eduardo Chavez-Mondragón; Gilberto Islas-de la Vega; Abelardo Rodriguez-Reyes
Journal:  Case Rep Ophthalmol       Date:  2011-05-13
  6 in total

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