Phenotype #0000301956

Individual ID 00409840
Associated disease -
Phenotype details myopia 7y6m; right / left eye refraction: -1.00-2.00x013 / -1.75- 2.50x071, best corrected visual acuity: 20/60, small-angle intermittent exotropia, no nystagmus; anterior segment slit-lamp examination: normal; retinal exam: the choroid showed just temporal to the optic discs and just peripheral to the arcades; fundus autofluorescence: increased signal just temporal and superior to the discs and along the arcades; optical coherence tomography: outer retinal loss peripheral to the central macula; full-field electroretinography: rod-cone dysfunction
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite rod-cone dystrophy
Age/Examination 8y (8 years)
Age/Diagnosis -
Age/Onset 7y
Phenotype/Onset photophobia
Protein -
Owner name LOVD
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Anna Tracewska
Date created 2022-05-12 11:42:14 +02:00 (CEST)
Date last edited N/A

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