Phenotype #0000245691

Individual ID	00327400
Associated disease	maculopathy
Diagnosis/Initial	-
Diagnosis/Definite	-
Phenotype details	Fundus/History: Bilateral macular schisis, vitreous veils, mild pigmentary retinopathy. Right eye developed shallow rhegmatogenous inferior retinal detachment, and was treated by scleral buckle procedure, cryotherapy with gas injection. Ocular Coherence Tomography: Bilateral parafoveal thinning of the outer retina layers. Central splitting between the inner nuclear and the outer plexiform layer. Electroretinogram (ERG): Small residual cone flicker (6.2 microV in OD, and 7.1 microV in OS) with no measurable responses to ISCE standard seriesd ERG in ffERG
Inheritance	Familial, autosomal recessive
Age/Examination	11y (11 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Lance P Doucette
Database submission license	No license selected
Created by	Lance P Doucette
Date created	2021-01-20 21:54:35 +01:00 (CET)
Date last edited	2021-01-21 10:49:27 +01:00 (CET)