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Isolated foveal hypoplasia: report of a new case and detailed genetic investigation

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Abstract

To carry out an ophthalmological and detailed genetic investigation on a 7-year-old boy with isolated foveal hypoplasia. A full ophthalmological examination and optical coherence tomography (OCT) was performed. We also performed a full genome screen for chromosomal abnormalities, and searched for mutations in two genes (GPR143 and OCA2) known to be associated with ocular albinism and PAX6 gene known to be associated with aniridia. His eye examination was normal with no iris transillumination. A fundus examination, however, showed classic signs of foveal hypoplasia. A molecular genetic investigation showed no mutation(s) in all genes screened and no chromosomal deletion(s) and/or duplication(s) were detected. We report a case of isolated foveal hypoplasia where the underlying genetic cause could not be established. We could not rule out other genetic or epigenetic factors contributing to the pathogenesis of isolated foveal hypoplasia.

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Authors and Affiliations

  1. AlHokama Eye Specialist Center, Riyadh, Saudi Arabia

    Ahmed A. Al-Saleh

  2. The PGD Laboratory, Saad Specialist Hospital, Al-Khobar, Saudi Arabia

    Ali Hellani

  3. The Ophthalmic Genetics Laboratory, Department of Ophthalmology, College of Medicine, King Saud University, P.O. Box 245, 11411, Riyadh, Saudi Arabia

    Khaled K. Abu-Amero

Authors
  1. Ahmed A. Al-Saleh
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  2. Ali Hellani
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  3. Khaled K. Abu-Amero
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Corresponding author

Correspondence to Khaled K. Abu-Amero.

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Al-Saleh, A.A., Hellani, A. & Abu-Amero, K.K. Isolated foveal hypoplasia: report of a new case and detailed genetic investigation. Int Ophthalmol 31, 117–120 (2011). https://doi.org/10.1007/s10792-011-9424-1

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  • DOI: https://doi.org/10.1007/s10792-011-9424-1

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