May 2004
Volume 45, Issue 13
Free
ARVO Annual Meeting Abstract  |   May 2004
Blindness Enlarged Globe (beg), a recessively inherited mutation in chickens
Author Affiliations & Notes
  • C.F. Inglehearn
    School of Medicine, Leeds University, Leeds, United Kingdom
  • M.D. Mohamed
    School of Medicine, Leeds University, Leeds, United Kingdom
  • L.M. Downey
    School of Medicine, Leeds University, Leeds, United Kingdom
  • I.G. Simmons
    Eye Department, St James's University Hospital, Leeds, United Kingdom
  • C. Thaung
    Academic Department of Ophthalmology, Royal Eye Hospital, Manchester, United Kingdom
  • L.R. Bridges
    School of Medicine, Leeds University, Leeds, United Kingdom
  • G.W. Roberston
    Genetics and Biometry,
    Roslin Institute, Edinburgh, United Kingdom
  • D.H. Lester
    Abertay University, Dundee, United Kingdom
  • D.W. Burt
    Genomics and Bioinformatics,
    Roslin Institute, Edinburgh, United Kingdom
  • P.M. Hocking
    Genetics and Biometry,
    Roslin Institute, Edinburgh, United Kingdom
  • Footnotes
    Commercial Relationships  C.F. Inglehearn, None; M.D. Mohamed, None; L.M. Downey, None; I.G. Simmons, None; C. Thaung, None; L.R. Bridges, None; G.W. Roberston, None; D.H. Lester, None; D.W. Burt, None; P.M. Hocking, None.
  • Footnotes
    Support  Wellcome Trust Grant 057288
Investigative Ophthalmology & Visual Science May 2004, Vol.45, 3588. doi:
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      C.F. Inglehearn, M.D. Mohamed, L.M. Downey, I.G. Simmons, C. Thaung, L.R. Bridges, G.W. Roberston, D.H. Lester, D.W. Burt, P.M. Hocking; Blindness Enlarged Globe (beg), a recessively inherited mutation in chickens . Invest. Ophthalmol. Vis. Sci. 2004;45(13):3588.

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      © ARVO (1962-2015); The Authors (2016-present)

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Abstract

Abstract: : Purpose: To report conservation of the beg chick mutant, described twenty–two years ago and to document the phenotype. The original report described a phenotype of blindness at hatch and globe enlargement in adult birds. Methods: A breeding colony was established and maintained at the Roslin Institute, Edinburgh. Birds were subjected to ophthalmic, morphometric and histopathological examination to confirm and extend observations in the original report. Results: beg homozygotes have significantly greater axial lengths and near doubled eye volumes. No significant difference in intraocular pressures was observed between blind and sighted birds, as measured by a tonopen. Full ophthalmic examination revealed chorioretinal atrophy with marked pigmentary changes, an absent or sluggish pupillary response, atrophy of the pecten and peri–papillary retina and iris neovascularisation. Several birds had high refractive error. Older birds had cataract, which, in the oldest cohort, was present in an injected eye with prominent iris vessels and an irregular unreactive pupil, reminiscent of rubeosis iridis. The oldest birds also occasionally demonstrated deposits on the lens capsule reminiscent of pseudoexfoliation. Pathological examination showed RPE clumping and loss of photoreceptors, with preservation of the inner nuclear, inner plexiform and ganglion cell layers. Conclusions: Analysis of the beg chicken mutant reveals a complex phenotype which is clinically distinct from existing chick eye mutants.

Keywords: degenerations/dystrophies • retina • retinal degenerations: hereditary 
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