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- W2467387006 abstract "1. SUMMARY Purpose: Clinical evaluation of 42 patients with primarily suspected diagnosis of Leber's congenital amaurosis (LCA). Methods: We used the electroretinogram (ERG), visual acuity, fundus ap pearance, age of onset, and systemic findings to confirm or revise the diagnosis of LCA. Results: Twenty-four patients had a non-recordable ERG, and 3 showed small, residual, mainly cone-driven b-waves. Profound visual loss ranged from no light per ception to 20/200. Visual acuity of light perception was frequent at <1 year of age. Three patients never had light perception. Most patients had a stable visual acuity despite progressive retinal pigmentary changes. A normal fundus was seen predominantly in patients younger than 1 year of age, but could also be found in patients of all age groups. The first, and frequently the only pigmentary changes were vascular attenuation and rarefaction, later in life heterogeneous retinal findings appeared. None of the 9 reexamined patients showed a normal fundus. Nystagmus and strabismus were principal presenting symptoms. Eleven patients presented with the ociilodigital sign, three of them were enophthalmic, and 12 patients showed roving eye movements. Patients with additional (nonocular) findings such as mental retardation (n = 12), renal (n = 3) and skeletal (n = 4) abnormalities revealed no different ERG- or" @default.
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- W2467387006 date "1999-01-01" @default.
- W2467387006 modified "2023-09-24" @default.
- W2467387006 title "LEBER'S CONGENITAL AMAUROSIS Clinical Heterogeneity and Electroretinography in 27 Patients" @default.
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