December 2002
Volume 43, Issue 13
Free
ARVO Annual Meeting Abstract  |   December 2002
Inherited Retinal Dystrophy and Asymmetric Axial Length
Author Affiliations & Notes
  • PJ Francis
    Department of Molecular Genetics Institute of Ophthalmology London United Kingdom
  • S Kaushal
    Department of Ophthalmology and Institute of Human Genetics University of Minnesota Minneapolis MN
  • A Robson
    Department of Electrophysiology Moorfields Eye Hospital London United Kingdom
  • G Holder
    Department of Electrophysiology Moorfields Eye Hospital London United Kingdom
  • AT Moore
    Department of Molecular Genetics Institute of Ophthalmology London United Kingdom
  • Footnotes
    Commercial Relationships   P.J. Francis, None; S. Kaushal, None; A. Robson, None; G. Holder, None; A.T. Moore, None.
Investigative Ophthalmology & Visual Science December 2002, Vol.43, 1200. doi:
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      PJ Francis, S Kaushal, A Robson, G Holder, AT Moore; Inherited Retinal Dystrophy and Asymmetric Axial Length . Invest. Ophthalmol. Vis. Sci. 2002;43(13):1200.

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Abstract

Abstract: : Purpose: To describe the phenotype of two siblings presenting with a symmetric retinal dystrophy but asymmetric ocular axial lengths. The development of the eye is determined by complex interactions between a number of genes, their products and certain environmental factors. Since each eye is influenced by precisely the same processes as its fellow, mutations in regulatory genes usually lead to symmetric phenotypes. Methods: Two siblings of Asian ethnicity and their non-consanguinous parents with no family history of ocular disease underwent a full ophthalmic assessment including electrophysiology. Results: Both sibs (an 8 year old boy and his 6 year old sister) had similar symmetrical fundal appearances including white retinal flecks, generalized retinal pigment epithelial (RPE) and choroidal atrophy, retinal vascular sheathing and macular 'coloboma'. Visual acuity, refraction, axial length and ocular volume measurements are shown in the table below. No definite ERG response was recorded from the emmetropic eye of either child. The electrical responses of both children's myopic fellow eye showed a milder degree of dysfunction affecting primarily post-phototransductional cone and rod systems. Ocular examination of both parents was unremarkable. Conclusion: These two siblings represent original probands with an inherited, probably autosomal recessive retinal dystrophy associated with ocular asymmetry. Such findings cannot be explained by a single genetic abnormality and most probably reflect at least two separate events, a germline mutation in a retina or RPE specific gene that results in degeneration, thereby creating a susceptible background on which a second event could occur resulting in the asymmetry of axial length. Visual acuity, refraction, axial length and ocular volume measurements for each sib  

Keywords: 562 retinal degenerations: hereditary • 543 refractive error development • 420 genetics 
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