Global Variome shared LOVD

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Phenotype #0000306918 Individual ID 00415117 Associated disease - Phenotype details best corrected visual acuity right, left eye: no perception of light hand movements ; refractive error (spherical equivalent): +18.00 D, +18.50 D; foveal cystic spaces: present; optic nerve head drusen: absent; cataract: bilateral cataract surgery Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite nanophthalmos-renititis pigmentosa-foveoschisis-optic disk drusen syndrome Age/Examination 47y (47 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 2022-08-08 14:02:58 +02:00 (CEST) Date last edited N/A

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