Phenotype #0000307715

Individual ID 00415944
Associated disease -
Phenotype details reason for referral: complaining of decreased near vision since 5 y; best corrected visual acuity right, left eye: 20/40, 20/70 (7y); no nyctalopia; refraction right, left eye: +1.00-1.50x180, +1.00-1.50x180; fundus: macular retinal pigment epithelium atrophy; fundus autofluorescence: not available; comments: 9y: 20/100 both eyes; small central scotoma both eyes
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite cone dystrophy with supernormal rod electroretinogram
Age/Examination 8y (8 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 2022-08-19 09:17:45 +02:00 (CEST)
Date last edited N/A

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