Literature DB >> 3355417

Family with aniridia, microcornea, and spontaneously reabsorbed cataract.

Y Yamamoto1, S Hayasaka, T Setogawa.   

Abstract

We examined a family that had aniridia, microcornea, and spontaneously reabsorbed cataract in three members in three generations. An autosomal dominant inheritance for these features was strongly suggested. We believe that a spontaneously reabsorbed cataract is particularly unusual in association with aniridia.

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Mesh:

Year:  1988        PMID: 3355417     DOI: 10.1001/archopht.1988.01060130548033

Source DB:  PubMed          Journal:  Arch Ophthalmol        ISSN: 0003-9950


  6 in total

1.  Bilateral congenital dentiform cataract and extreme microcornea in eyes with uveal colobomas and persistent hyperplastic primary vitreous.

Authors:  B Seitz; G O Naumann
Journal:  Br J Ophthalmol       Date:  1996-04       Impact factor: 4.638

2.  Pulverulent cataract with variably associated microcornea and iris coloboma in a MAF mutation family.

Authors:  R V Jamieson; F Munier; A Balmer; N Farrar; R Perveen; G C M Black
Journal:  Br J Ophthalmol       Date:  2003-04       Impact factor: 4.638

Review 3.  Aniridia: recent achievements in paediatric practice.

Authors:  I Ivanov; A Shuper; M Shohat; M Snir; R Weitz
Journal:  Eur J Pediatr       Date:  1995-10       Impact factor: 3.183

4.  Rare association of familial aniridia, microcornea with myopia and aphakia.

Authors:  Jaya Biswas; Asim Chakrabarti; Debabrata Das
Journal:  Middle East Afr J Ophthalmol       Date:  2014 Jul-Sep

5.  Inherited partial aniridia, microcornea with high myopia and Bergmeister's papilla: a new phenotypic expression.

Authors:  Prashant Naithani; Ankur Sinha; Viney Gupta
Journal:  Indian J Ophthalmol       Date:  2008 Mar-Apr       Impact factor: 1.848

6.  Expanding the phenotype of CRYAA nucleotide variants to a complex presentation of anterior segment dysgenesis.

Authors:  Andrey V Marakhonov; Anna A Voskresenskaya; Maria Jose Ballesta; Fedor A Konovalov; Tatyana A Vasilyeva; Fiona Blanco-Kelly; Nadezhda A Pozdeyeva; Vitaly V Kadyshev; Vanesa López-González; Encarna Guillen; Carmen Ayuso; Rena A Zinchenko; Marta Corton
Journal:  Orphanet J Rare Dis       Date:  2020-08-13       Impact factor: 4.123

  6 in total

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