Literature DB >> 1954207

Heterogeneity in dominant anterior segment malformations.

G E Holmström1, W P Reardon, M Baraitser, J S Elston, D S Taylor.   

Abstract

Peters' anomaly is usually a sporadic or autosomal recessive condition. We present three families whose members had dominantly inherited anterior segment anomalies with variable expression, including typical Peters' anomaly in at least one family member. Slit-lamp examination of parents and family members of children with Peters' anomaly is therefore important to exclude dominant inheritance.

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Year:  1991        PMID： 1954207      PMCID： PMC1042494          DOI： 10.1136/bjo.75.10.591

Source DB:  PubMed          Journal:  Br J Ophthalmol        ISSN： 0007-1161            Impact factor:   4.638


  40 in total

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Authors:  H GASSLER; H BERTHOLD
Journal:  Klin Monbl Augenheilkd Augenarztl Fortbild       Date:  1960

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Authors:  W M Townsend; R L Font; L E Zimmerman
Journal:  Am J Ophthalmol       Date:  1974-02       Impact factor: 5.258

3.  Congenital corneal leukomas. 1. Central defect in Descemet's membrane.

Authors:  W M Townsend
Journal:  Am J Ophthalmol       Date:  1974-01       Impact factor: 5.258

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Authors:  K F Tabbara; F P Khouri
Journal:  Can J Ophthalmol       Date:  1973-07       Impact factor: 1.882

5.  The fine structure of sclerocornea.

Authors:  A Kanai; T C Wood; F M Polack; H E Kaufman
Journal:  Invest Ophthalmol       Date:  1971-09

6.  Inherited variation in Rieger's malformation.

Authors:  W G Pearce; C B Kerr
Journal:  Br J Ophthalmol       Date:  1965-10       Impact factor: 4.638

7.  Rieger's syndrome.

Authors:  M Feingold; F Shiere; H R Fogels; D Donaldson
Journal:  Pediatrics       Date:  1969-10       Impact factor: 7.124

8.  Mesoectodermal dysplasia of the iris and cornea, mental retardation and myopathy: a sporadic case.

Authors:  R L Summitt; R L Hiatt; D Duenas; W W Johnson
Journal:  Birth Defects Orig Artic Ser       Date:  1971-03

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Authors:  A B Reese; R M Ellsworth
Journal:  Arch Ophthalmol       Date:  1966-03

10.  Anterior chamber cleavage syndrome. A stepladder classification.

Authors:  G O Waring; M M Rodrigues; P R Laibson
Journal:  Surv Ophthalmol       Date:  1975 Jul-Aug       Impact factor: 6.048
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  4 in total

1.  Axenfeld-Rieger Syndrome Associated with Congenital Glaucoma and Cytochrome P4501B1 Gene Mutations.

Authors:  Mukesh Tanwar; Tanuj Dada; Rima Dada
Journal:  Case Rep Med       Date:  2010-08-09

2.  Ocular and brain imaging findings in Peters' anomaly: A case report and literature review.

Authors:  Amjad Samara; Rami W Eldaya
Journal:  Radiol Case Rep       Date:  2020-04-30

Review 3.  Case report of the rare Peters' anomaly complicated with Axenfeld-Rieger syndrome: A case report and brief review of the literature.

Authors:  Yong Meng; Guohua Lu; Yang Xie; Xincheng Sun; Liqin Huang
Journal:  Medicine (Baltimore)       Date:  2022-01-14       Impact factor: 1.817

4.  FOXE3 contributes to Peters anomaly through transcriptional regulation of an autophagy-associated protein termed DNAJB1.

Authors:  Shahid Y Khan; Shivakumar Vasanth; Firoz Kabir; John D Gottsch; Arif O Khan; Raghothama Chaerkady; Mei-Chong W Lee; Carmen C Leitch; Zhiwei Ma; Julie Laux; Rafael Villasmil; Shaheen N Khan; Sheikh Riazuddin; Javed Akram; Robert N Cole; C Conover Talbot; Nader Pourmand; Norann A Zaghloul; J Fielding Hejtmancik; S Amer Riazuddin
Journal:  Nat Commun       Date:  2016-04-06       Impact factor: 14.919
  4 in total

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