Phenotype #0000306860

Individual ID 00415059
Associated disease -
Phenotype details best corrected visual acuity: 20/60 both eyes; anterior segment findings: horizontal corneal diameter: 11.6mm, 11.7mm, shallow anterior chamber and open camerular angles both eyes ; posterior segment findings: optic disc drusen, pigment clumping and bone-spicule pigmentation both eyes; electroretinogram: extinguished rod responses and moderate reduction and delay in cone responses both eyes; optical coherence tomography: diffuse macular thickening, outer retinal layers schisis with discrete bridging elements at the fovea (foveoschisis) both eyes
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite posterior microphthalmos, retinitis pigmentosa, foveoschisis, and optic disc drusen syndrome
Age/Examination 39y (39 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 2022-08-06 21:06:02 +02:00 (CEST)
Date last edited N/A

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