Phenotype #0000306920

Individual ID 00415119
Associated disease -
Phenotype details best corrected visual acuity: 6/60 both eyes; refractive error (spherical equivalent): +17.75 D, +18.00 D; foveal cystic spaces: present; optic nerve head drusen: absent; cataract: absent
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite nanophthalmos-renititis pigmentosa-foveoschisis-optic disk drusen syndrome
Age/Examination 34y (34 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name LOVD
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Anna Tracewska
Date created 2022-08-08 14:02:58 +02:00 (CEST)
Date last edited N/A

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