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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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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 View OriginalDownload SlideView OriginalDownload Slide
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