Global Variome shared LOVD

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

Phenotype #0000306881 Individual ID 00415080 Associated disease - Phenotype details best corrected visual acuity right, left eye: 0.05, no light perception; corneal diameter (mm): 11.2 mm, 11.1 mm; axial length: 15.31, 15.43; refraction right, left eye: +18, -; intraocular pressure (mmHg): 18, 18; posterior segment findings: optic disk drusen, retinitis pigmentosa; optical coherence tomography: foveoschisis; macular thickness (um): 650 (macular edema) Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite nanophthalmos-renititis pigmentosa-foveoschisis-optic disk drusen syndrome Age/Examination 60y (60 years) 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 2022-08-07 13:08:05 +02:00 (CEST) Date last edited N/A

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