Phenotype #0000314442

Individual ID 00423237
Associated disease -
Phenotype details uncorrected visual acuity(logMAR): 1.18+/-0.07, 1.18+/-0.07; best-corrected visual acuity (refraction)0.92(-11.00DS/-2.50DCx25deg)1(-15.00DS/-2.00DCx160deg); color vision defects: severe; other signs: photophobia, nystagmus; electroretinography (ERG) right/left eye: scotopic 0.01 ERG, b-wave (mv): mild decline/ mild decline, photopic 3.0 ERG, a-wave (mv): moderate decline/ moderate decline, b-wave (mv): moderate decline/ moderate decline
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite achromatopsia
Age/Examination 8y (8 years)
Age/Diagnosis -
Age/Onset 5y
Phenotype/Onset -
Protein -
Owner name LOVD
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Anna Tracewska
Date created 2022-11-14 11:51:40 +01:00 (CET)
Date last edited N/A

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