Phenotype #0000245687

Individual ID 00327393
Associated disease CHM
Phenotype details Fundus findings/History: Choroideremia like fundus in both eyes, mild pallor optic nerve head

Ocular Coherence Tomography: Outer retinal layers loss, presence of outer retinal tubulations

Electroretinogram (ERG): Rod-cone dysdrophy in ffERG
Diagnosis/Initial Chroideremia
Inheritance Familial, autosomal dominant
Diagnosis/Definite RPE65 mediated Choroidal Atrophy
Age/Examination -
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein REP1 Western blotting from Lymphoblast isolated protein showed normal expression
Owner name Lance P Doucette
Database submission license No license selected
Created by Lance P Doucette
Date created 2021-01-20 18:41:47 +01:00 (CET)
Date last edited 2021-01-21 11:03:33 +01:00 (CET)

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