Phenotype #0000300404

Individual ID 00408276
Associated disease -
Phenotype details severe visual impairment of their child during infancy; retardation of the neuropsychological development; brain computer tomography: mild cortical atrophy; ophthalmic examination: no fixation, visual acuity could not be measured; fundus: disc pallor, moderately attenuated vessels; fundography and fluorescein angiography: disc pallor, attenuated retinal vessels, attenuated macular reflex and pigment epithelium mottling in the mid-periphery; electroretinogram: photopic, flickers and scotopic recordings unresponsive; visual evoked potentials: marked dysfunction
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite Leber congenital amaurosis
Age/Examination 4y (4 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name LOVD
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Anna Tracewska
Date created 2022-04-18 20:30:55 +02:00 (CEST)
Date last edited N/A

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