Literature DB >> 7065945

Autosomal dominant foveal hypoplasia and presenile cataracts. A new syndrome.

F E O'Donnell, H R Pappas.   

Abstract

An autosomal dominant syndrome of mild foveal hypoplasia (visual acuity, 20/50), congenital nystagmus, corneal pannus, and presenile cataracts was seen in four patients from a single family. There is variable expressivitly of this trait. The differential diagnosis includes aniridia, ocular albinism, and isolated foveal hypoplasia. Cataract surgery is indicated for affected patients with substantial visual impairment.

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Year:  1982        PMID: 7065945     DOI: 10.1001/archopht.1982.01030030281009

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


  5 in total

1.  Isolated foveal hypoplasia.

Authors:  M D Oliver; S A Dotan; J Chemke; F A Abraham
Journal:  Br J Ophthalmol       Date:  1987-12       Impact factor: 4.638

2.  Clinical features of affected males with X linked ocular albinism.

Authors:  S J Charles; J S Green; J W Grant; J R Yates; A T Moore
Journal:  Br J Ophthalmol       Date:  1993-04       Impact factor: 4.638

3.  Vision in albinism.

Authors:  C G Summers
Journal:  Trans Am Ophthalmol Soc       Date:  1996

4.  Paired-type homeodomain transcription factors are imported into the nucleus by karyopherin 13.

Authors:  Jonathan E Ploski; Monee K Shamsher; Aurelian Radu
Journal:  Mol Cell Biol       Date:  2004-06       Impact factor: 4.272

5.  Autosomal-dominant nystagmus, foveal hypoplasia and presenile cataract associated with a novel PAX6 mutation.

Authors:  Shery Thomas; Mervyn G Thomas; Caroline Andrews; Wai-Man Chan; Frank A Proudlock; Rebecca J McLean; Archana Pradeep; Elizabeth C Engle; Irene Gottlob
Journal:  Eur J Hum Genet       Date:  2013-08-14       Impact factor: 4.246

  5 in total

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