Phenotype #0000285426

Individual ID 00392148
Associated disease -
Phenotype details best corrected visual acuity right/left eye: 0.5/0.2, visual field: constricted to 20deg-30deg both eyes (70/72), fundus: optic disc pallor, thin vessels, intraretinal pigment deposits., optical coherence tomography: widespread atrophy, cystoid macular edema
Diagnosis/Initial rod-cone dystrophy
Inheritance Unknown
Diagnosis/Definite RPN-316
Age/Examination 22y (22 years)
Age/Diagnosis 15y
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 2021-11-21 15:43:04 +01:00 (CET)
Date last edited N/A

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