Phenotype #0000285414

Individual ID 00392136
Associated disease -
Phenotype details best corrected visual acuity right/left eye: 0.7/0.8, visual field: constricted to 10deg-20deg both eyes (74/74), fundus: optic disc pallor, thin vessels, intraretinal pigment deposits, RPE atrophy, choroidosis, fundus autofluorescence: hyperautofluorescence macular ring, PC speckled hypoautofluorescence, optical coherence tomography: widespread thinn
Diagnosis/Initial rod-cone dystrophy
Inheritance Unknown
Diagnosis/Definite RPN-302
Age/Examination 10y (10 years)
Age/Diagnosis 5y
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 15:06:43 +01:00 (CET)
Date last edited N/A

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