Phenotype #0000307781

Individual ID 00416015
Associated disease -
Phenotype details best-corrected Snellen visual acuity:20/125, 20/125; refraction:-7.5, -6.5; color vision: severely disturbed red/green axes, normal blue/ yellow axes; photophobia: since birth; nystagmus: since birth; rod electroretinogram: scotopic responses normal; cone electroretinogram: severely reduced cone electroretinogram and absent 30 Hz flicker response
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite incomplete achromatopsia
Age/Examination 45y (45 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 2022-08-21 18:19:53 +02:00 (CEST)
Date last edited N/A

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