Phenotype #0000337572

Individual ID 00448384
Associated disease neuropathy, optic
Phenotype details Moderately reduced visual acuity (HP:0030515); Dyschromatopsia (HP:0007641); Nyctalopia (HP:0000662); Strabismus (HP:0000486); Myopic astigmatism (HP:0500041); Centrocecal scotoma (HP:0000576); Temporal optic disc pallor (HP:0012511); Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138); Peripapillary atrophy (HP:0500087); Bone spicule pigmentation of the retina (HP:0007737); Attenuation of retinal blood vessels (HP:0007843); Hypoautofluorescent retinal lesion (HP:0025159); Hyperautofluorescent retinal lesion (HP:0025158); Intraretinal hyporeflective spaces on macular OCT (HP:0030623); Inner retinal layer loss on macular OCT (HP:0030620); Decreased light- and dark-adapted electroretinogram amplitude (HP:0000654); Rod-cone dystrophy (HP:0000510)
Diagnosis/Initial -
Diagnosis/Definite -
Inheritance Familial, autosomal recessive
Age/Examination 24y (24 years)
Age/Diagnosis -
Age/Onset <04y
Phenotype/Onset -
Protein -
Owner name Aude Rocatcher
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Aude Rocatcher
Date created 2024-03-06 18:26:14 +01:00 (CET)
Date last edited 2024-04-12 07:53:51 +02:00 (CEST)

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