Phenotype #0000307104

Individual ID	00415307
Associated disease	-
Phenotype details	axial length, mm right/left eye: 22.6/22.55; disrupted foveal anatomy; confocal adaptive optics scanning light ophthalmoscopy: the majority of features at the fovea seemed to be retinal pigment epithelial (RPE) cells, observed as hyporeflective, hexagonal structures that did not align to any distinct features in the split-detection modality, but rather directly aligned with the dark-field RPE mosaic; occasional isolated cone-like structures were observed in the split-detection images; parafoveal photoreceptor mosaic has density consistent with the normal rod, not cone, mosaic
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	achromatopsia
Age/Examination	25y (25 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	LOVD
Database submission license
Created by	Anna Tracewska
Date created	2022-08-11 11:14:39 +02:00 (CEST)
Date last edited	N/A

Global Variome shared LOVD