Phenotype #0000308342

Individual ID 00416622
Associated disease -
Phenotype details grade 1 foveal hypoplasia with absent extrusion of plexiform layers and a shallow foveal pitmeasurements right/left eye: total macular volume, mm3: 9.32/9.34; central macular thickness, um: 300/302; ganglion cell layer and the inner plexiform layer, mm3: 0.85/0.84; retinal nerve fiber layer thickness, um: 104/104; optic nerve head diameter: 1589 x 1754/1635 x 1819
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite optic nerve hypoplasia
Age/Examination -
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 2022-09-07 10:25:25 +02:00 (CEST)
Date last edited N/A

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