Phenotype #0000245752

Individual ID 00327463
Associated disease maculopathy
Diagnosis/Initial Retinopathy
Diagnosis/Definite -
Phenotype details Fundus findings: Circumscribed central retinal atrophy (Retinal atrophy HP:0001105)

Ocular coherence tomography (OCT): Atrophy of outer retina. Bruch's membrane is absent in the central fovea.

Electroretinogram: Normal ffERG in the right eye; reduced cone flash and flicker in the left eye (Abnormal ERG HP:0000512)
Inheritance Familial, autosomal recessive
Age/Examination 29y (29 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Lance P Doucette
Database submission license No license selected
Created by Lance P Doucette
Date created 2021-01-21 22:19:01 +01:00 (CET)
Date last edited 2021-01-25 08:57:40 +01:00 (CET)

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