Global Variome shared LOVD

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

Phenotype #0000292055 Individual ID 00398966 Associated disease - Phenotype details optical coherence tomography: cystoid oedema, which was also evident on ophthalmoscopy; bilateral vitreomacular traction; extensive epiretinal membranes; no rod function and detectable cone function in the central field only; 34y best-corrected visual acuity remained 20/30, but visual fields had decreased to only a central island; best corrected visual acuity: 20/100 each eye. Cataract extraction in the right eye had improved his vision from 20/200 to 20/100; posterior intraocular lens; posterior subcapsular cataract left eye; non-nummular intraretinal pigmentation from the arcades to the mid-peripheral retina Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite retinitis pigmentosa Age/Examination 48y (48 years) Age/Diagnosis - Age/Onset - Phenotype/Onset night vision problems Protein - Owner name LOVD Database submission license Creative Commons Attribution 4.0 International Created by Anna Tracewska Date created 2022-01-14 19:21:38 +01:00 (CET) Date last edited N/A

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.