Phenotype #0000302211

Individual ID 00410102
Associated disease -
Phenotype details best corrected visual acuity (2004) right, left eye: 0.9, 1.0; best corrected visual acuity right, left eye (2016): 0.25, 0.8; Goldmann visual field: V4e l5deg-20deg and a temp crescent 50deg-90deg, I4e 7deg-10deg; macular map optical coherence tomography: right eye central macular edema otherwise attenuation, left eye general attenuation; rod full field electroretinography amplitudes (uV): extinguished; cone full field electroretinography amplitudes (uV) right, left eye: residual responses 1, 0.5 ; multifocal electroretinography amplitudes (uV): reduced; cGMP concentration nM: 146
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite retinitis pigmentosa
Age/Examination 28y (28 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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