Global Variome shared LOVD

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Phenotype #0000302620 Individual ID 00410516 Associated disease - Phenotype details 3y: wearing glasses; continually decreased visual acuity; no family history of eye diseases; best-corrected visual acuity right, left eye: 20/80, 20/70; pendular horizontal nystagmus; anterior segments and lense: normal; intraocular tension right, left eye: 15 / 14 mmHg; fundus: optic nerves normal, extensive mottled appearance outside the maculae and a bull's eye pattern of continuous atrophy in the maculae; full-field electroretinography- scotopic rod-specific responses, maximum electroretinogram, photopic 30-Hz flicker electroretinogram, and transient photopic electroretinogram: extinguish Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite Leber congenital amaurosis Age/Examination 12y (12 years) Age/Diagnosis - Age/Onset 2y Phenotype/Onset slight photodysphoria and nystagmus Protein - Owner name LOVD Database submission license Creative Commons Attribution 4.0 International Created by Anna Tracewska Date created 2022-05-27 20:32:58 +02:00 (CEST) Date last edited N/A

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