Global Variome shared LOVD

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Phenotype #0000299108 Individual ID 00406657 Associated disease - Phenotype details 6y: no nystagmus or strabismus; visual acuities: 20/200; cycloplegic retinoscopy: was +3.00 - 1.50 x 180 both eyes; ophthalmoscopy: attenuated retinal vessels, some granularity to the fundus appearance; visual field: slight generalized constriction but full in peripheral extent; response to a I-4e target was mainly in the peripheral field with a relative central and midperipheral scotomas; electroretinogram: no detectable rod b-waves; responses to a mixed cone-rod stimulus and to cone stimuli: abnormally reduced; optical coherence tomography – fovea: relatively normal contour retinal thinni Diagnosis/Initial - Inheritance Unknown Diagnosis/Definite Leber congenital amaurosis Age/Examination - Age/Diagnosis - Age/Onset 4y Phenotype/Onset visual inattention and night vision 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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