Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000222704 Individual ID 00289072 Associated disease - Phenotype details retinitis pigmentosa, related cystoid macular edema; bothered by light flashes severe enough to be almost disabling; floaters, progressive loss peripheral vision; had different surgical procedures as Lasik OU (2003), cataract removal OD (2008), Yag, 12y and 14y-strabismus for exotropia 15–20del; acuity right 20/20, left 20/25+2; intraocular pressures right 13, left 14; both visual fields constricted; posterior subcapsular cataract left eye only, intraocular lens right eye only; no other relevant medical problems Diagnosis/Initial retinitis pigmentosa Inheritance Familial, autosomal dominant Diagnosis/Definite RP83 Age/Examination 30y (30 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2020-02-29 08:28:36 +01:00 (CET) Date last edited 2020-02-29 08:45:13 +01:00 (CET)

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