Literature DB >> 868970

Familial aniridia with preserved ocular function.

F J Elsas, I H Maumenee, K R Kenyon, F Yoder.   

Abstract

Of 76 members of a large pedigree with familial aniridia, 61% of the 38 affected patients had visual acuity of 6/9 (20/30) or better and only 5% had acuity of 6/60 (20/200) or worse. Cataracts were present in 18% of affected patients; glaucoma in 13%; and strabismus in 34%. Sixteen percent of affected patients had strabismic amblyopia. No patient had nystagmus or corneal pannus. The good visual acuity in this family, as compared to that in others, indicates that the absence of iris tissue alone cannot account for the severe visual problems usually associated with aniridia.

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Year:  1977        PMID: 868970     DOI: 10.1016/0002-9394(77)90139-8

Source DB:  PubMed          Journal:  Am J Ophthalmol        ISSN: 0002-9394            Impact factor:   5.258


  8 in total

1.  Congenital aniridia: long-term clinical course, visual outcome, and prognostic factors.

Authors:  Ji Woong Chang; Jeong Hun Kim; Seong-Joon Kim; Young Suk Yu
Journal:  Korean J Ophthalmol       Date:  2014-11-19

2.  A probable case of the homozygous condition of the aniridia gene.

Authors:  S V Hodgson; K E Saunders
Journal:  J Med Genet       Date:  1980-12       Impact factor: 6.318

3.  Sporadic aniridia and Wilms' tumor: visual function evaluation of three cases.

Authors:  C Harnois; H M Boisjoly; V Jotterand
Journal:  Graefes Arch Clin Exp Ophthalmol       Date:  1989       Impact factor: 3.117

4.  Blue light hazard and aniridia.

Authors:  R V Abadi; C M Dickinson
Journal:  Br J Ophthalmol       Date:  1985-03       Impact factor: 4.638

5.  Autosomal dominant aniridia: probable linkage to acid phosphatase-1 locus on chromosome 2.

Authors:  R E Ferrell; A Chakravarti; H M Hittner; V M Riccardi
Journal:  Proc Natl Acad Sci U S A       Date:  1980-03       Impact factor: 11.205

6.  Molecular analysis of aniridia patients for deletions involving the Wilms' tumor gene.

Authors:  M Drechsler; E J Meijers-Heijboer; S Schneider; B Schurich; C Grond-Ginsbach; G Tariverdian; G Kantner; A Blankenagel; D Kaps; T Schroeder-Kurth
Journal:  Hum Genet       Date:  1994-10       Impact factor: 4.132

7.  Three novel mutations of the PAX6 gene in Japanese aniridia patients.

Authors:  Toshio Kawano; Chunxia Wang; Yoshihiro Hotta; Miho Sato; Emi Iwata-Amano; Akiko Hikoya; Naoya Fujita; Norihisa Koyama; Shoichiro Shirai; Noriyuki Azuma; Masafumi Ohtsubo; Nobuyoshi Shimizu; Shinsei Minoshima
Journal:  J Hum Genet       Date:  2007-06-14       Impact factor: 3.172

Review 8.  Anterior segment dysgenesis: Insights into the genetics and pathogenesis.

Authors:  Sushmita Kaushik; Suneeta Dubey; Sandeep Choudhary; Ria Ratna; Surinder S Pandav; Arif O Khan
Journal:  Indian J Ophthalmol       Date:  2022-07       Impact factor: 2.969

  8 in total

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