Global Variome shared LOVD

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Phenotype #0000300184 Individual ID 00408055 Associated disease - Phenotype details onset: 1st decade of life; no photophobia; nystagmus; decline in visual acuity: 1st decade; myopia; keratoconus; cataract; papillary pallor: moderate: 16 eyes, severe: 4 eyes; peripapillary atrophy; white flecks: 4 patients; pigment mottling: 8 patients; vessel attenuation; bone spicules; diffuse chorioretinal atrophy; optical coherence tomography: macular atrophy with an average thickness of 96 um (from 89 to 104 um) in 24 eyes; visual field: limited to a central island: 2 patients 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 International Created by Anna Tracewska Date created 2022-04-13 12:09:21 +02:00 (CEST) Date last edited N/A

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