Phenotype #0000303153

Individual ID	00411063
Associated disease	-
Phenotype details	VA: 0.2/0.15; RPE dystrophy at the mid-periphery with clumped pigment and bone spicules. Parapapillary CNV in the right eye during follow-up; Preserved FAF at the macular area in both eyes ;
Diagnosis/Initial	NR2E3-related retinal dystrophy
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	-
Age/Examination	68y (68 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	LOVD
Database submission license
Created by	Julia Lopez
Date created	2022-05-31 18:45:49 +02:00 (CEST)
Date last edited	N/A

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