Phenotype #0000300186

Individual ID 00408057
Associated disease -
Phenotype details onset: 1st and 2nd decade; photophobia: no; nystagmus: no; decline in visual acuity: 1st decade; myopia keratoconus: no; cataract: (50% of cases); papillary pallor: discreet; peripapillary atrophy: yes; white flecks: yes; pigment mottling: no; vessel attenuation: no; bone spicules: average and extreme in the periphery; chorioretinal atrophy: diffuse; optical coherence tomography: normal; visual field: concentric narrowing
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite retinitis pigmentosa
Age/Examination -
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 2022-04-13 12:09:21 +02:00 (CEST)
Date last edited N/A

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