Phenotype #0000302210

Individual ID 00410101
Associated disease -
Phenotype details best corrected visual acuity (2004) right, left eye: 0.3, 0.04; best corrected visual acuity right, left eye (2016): 0.13, 0.1; Goldmann visual field: V4e < 10deg and a temp crescent 70deg-90deg, I4e < 5deg; macular map optical coherence tomography: General attenuation; rod full field electroretinography amplitudes (uV): extinguished; cone full field electroretinography amplitudes (uV) right, left eye: residual responses 1, 1; multifocal electroretinography amplitudes (uV): reduced; cGMP concentration nM: 202
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite retinitis pigmentosa
Age/Examination 34y (34 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 2022-05-18 20:43:18 +02:00 (CEST)
Date last edited N/A

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