Phenotype #0000300187

Individual ID 00408058
Associated disease -
Phenotype details onset: 1st decade : no photophobia: no nystagmus: decline in visual acuity: 1st decade; no keratoconus; no cataract; papillary pallor: severe; peripapillary atrophy: yes; white flecks: yes; pigment mottling: no; vessel attenuation: no; bone spicules: diffuse; chorioretinal atrophy: diffuse; optical coherence tomography: irregularity of the retinal pigment epithelium; diffuse macular thickening in 2 patients; visual field: tubular
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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