Phenotype #0000314534

Individual ID 00423327
Associated disease -
Phenotype details physical examination: auto-refractive test: normal; best corrected visual acuity right eye: counting fingers, left eye: 2/60; pinhole test: no improvement; Marcus gunn: no; orthophoric:; extra-ocular movement: not applicable; cornea: transparent; media: clear; intraocular pressure: normal; dry conjuctiva; color perception: abnormal; dark adaptation: abnormal; fundus examination: no macular flecks; no crowdy disc; fundus flecks; no macular flecks raised disc margins; no retinal flecks; lens changes; vitreous cells; atrophic maculopathy
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite retinitis punctata albescens
Age/Examination 40y (40 years)
Age/Diagnosis -
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 2022-11-15 15:00:41 +01:00 (CET)
Date last edited N/A

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