Global Variome shared LOVD

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Phenotype #0000300195 Individual ID 00408067 Associated disease - Phenotype details night blindness, no history of nystagmus; best corrected visual acuity right, left eye: 20/30 , 20/60; fundus: depigmentation atrophy of both maculae with bilateral peripapillary sparing; extensive mottling but very little pigment migration; far peripheral retina had a salt-and-pepper appearance; spectral domain optical coherence tomography: marked atrophy of the retinal pigment epithelium with intact retinal cell layers in the peripapillary regions; full field electroretinography: extinguished rod responses and diminished 30 Hz-flicker responses of approximately 10 uV in both eyes confirming a rod-cone dystrophy Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite Leber congenital amaurosis Age/Examination 10y (10 years) Age/Diagnosis 3y Age/Onset - Phenotype/Onset - Protein - Owner name LOVD Database submission license Creative Commons Attribution 4.0 International Created by Anna Tracewska Date created 2022-04-13 13:03:39 +02:00 (CEST) Date last edited N/A

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