Global Variome shared LOVD

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Phenotype #0000299107 Individual ID 00406656 Associated disease - Phenotype details 6y: nystagmus and exotropia; visual acuities: 1/200; cycloplegic retinoscopy: 4.00 both eyes; ophthalmoscopy: attenuated retinal vessels and a granular appearance to the fundus, most obvious in the midperiphery; visual field: limited to a central island of function electroretinogram: no detectable rod b-waves to a dim blue flash, dark adapted, but there were abnormally reduced waveforms to a maximal mixed cone-rod stimulus and to cone stimuli at 1 Hz and 29 Hz; 9y and 10y visual acuities decline to light perception, no measurable visual field; ophthalmoscopic appearance unchanged, except for faint bone spicule pigment in the midperiphery; macula did not seem to be atrophic; optical coherence tomography at extrafoveal locations, retinal thickness; 11,5 y: died from complications after tonsillectomy Diagnosis/Initial - Inheritance Unknown Diagnosis/Definite Leber congenital amaurosis Age/Examination - Age/Diagnosis - Age/Onset <1y Phenotype/Onset as an infant had abnormal eye movements and visual disturbances Protein - Owner name LOVD Database submission license Creative Commons Attribution 4.0 International Created by Anna Tracewska Date created 2022-04-03 23:32:15 +02:00 (CEST) Date last edited N/A

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