Literature DB >> 302662

Variable expression in flecked (speckled) dystrophy of the cornea.

M F Goldberg, B Krimmer, J Sugar, J Sewell, P Wong.   

Abstract

Five members of a three-generation pedigree had flecked corneal dystrophy. The number of flecks varied from patient to patient, and one individual was affected in only one eye. Visual acuity was normal in all family members. Homocystinuria also occurred in this family, but appeared to be coincidental. Central cloudy dystrophy of the cornea appears to be genotypically identical to flecked dystrophy of the cornea but is phenotypically distinct.

Entities:  

Mesh：

Year:  1977        PMID： 302662

Source DB:  PubMed          Journal:  Ann Ophthalmol        ISSN： 0003-4886


  3 in total

1.  Mutations in PIP5K3 are associated with François-Neetens mouchetée fleck corneal dystrophy.

Authors:  Shouling Li; Leila Tiab; Xiaodong Jiao; Francis L Munier; Leonidas Zografos; Béatrice E Frueh; Yuri Sergeev; Janine Smith; Benjamin Rubin; Mario A Meallet; Richard K Forster; J Fielding Hejtmancik; Daniel F Schorderet
Journal:  Am J Hum Genet       Date:  2005-05-18       Impact factor: 11.025

2.  Genetic linkage of Francois-Neetens fleck (mouchetée) corneal dystrophy to chromosome 2q35.

Authors:  Xiaodong Jiao; Francis L Munier; Daniel F Schorderet; Leonidas Zografos; Janine Smith; Benjamin Rubin; J Fielding Hejtmancik
Journal:  Hum Genet       Date:  2003-02-27       Impact factor: 4.132

3.  Therapeutic Benefits from Nanoparticles: The Potential Significance of Nanoscience in Retinal Degenerative Diseases.

Authors:  Raju V S Rajala
Journal:  J Mol Biol Ther       Date:  2019
  3 in total

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