Global Variome shared LOVD

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Phenotype #0000302056 Individual ID 00409942 Associated disease - Phenotype details best corrected visual acuity right, left eye: 0.6/0.6; anterior segment: not available; fundus: bone-spicule pigmentation in the mid-periphery; optical coherence tomography: increased retinal thickness in the macular region with discontinuous is/os junction; visual field: loss of upper and temporal visual field; electroretinogram: moderately decreased rod and cone responses; body mass index: 20.2; fasting blood glucose, mmol/l: 5.4; hba1c (glycosylated hemoglobin), %: 6.5; no developmental delay; no ataxia; no sensorineural deafness; no seizures Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite retinitis pigmentosa Age/Examination 33y (33 years) Age/Diagnosis - Age/Onset 18y Phenotype/Onset night blindness Protein - Owner name LOVD Database submission license Creative Commons Attribution 4.0 International Created by Anna Tracewska Date created 2022-05-14 12:06:33 +02:00 (CEST) Date last edited N/A

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