Abstract
Two siblings with Leber's congenital amaurosis had bilateral macular colobomas, nystagmus, extinguished ERGs, and degenerative salt and pepper like changes in the fundus. They had non-recordable or non-meaningful visually evoked cortical potentials in response to both flash and pattern stimuli. The ophthalmic conditions were thought to be inherited as an autosomal recessive trait.
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Abbreviations
- ERG:
-
electroretinogram
- VECP:
-
visually evoked cortical potential
References
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Murayama, K., Adachi-Usami, E. Bilateral macular colobomas in Leber's congenital amaurosis. Doc Ophthalmol 72, 181–188 (1989). https://doi.org/10.1007/BF00156708
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DOI: https://doi.org/10.1007/BF00156708