Phenotype #0000250599

Individual ID	00269284
Associated disease	CRDHL
Diagnosis/Initial	-
Diagnosis/Definite	CRDHL
Phenotype details	best‐corrected visual acuity 0.2/0.2; Goldmann visual fields normal peripheral limits, central, relative doughnut scotoma with small, spared central area; fundus imaging oculus dexter et sinister normal; blue light autofluorescence imaging oculus dexter et sinister mottled hyper‐ and hypoautofluorescence in macular area; optical coherence tomography oculus dexter et sinister granular aspect of outer retinal layers, disrupted outer retinal layer in fovea; full‐field flash electroretinography oculus dexter et sinister: mildly reduced rod‐specific responses, moderately reduced cone‐specific responses; sensorineural hearing loss for high tones; photophobia; acquired, severe color vision deficiency; asthenoteratozoospermia
Inheritance	Familial, autosomal recessive
Age/Examination	29y (29 years)
Age/Diagnosis	-
Age/Onset	06y
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license	No license selected
Created by	Johan den Dunnen
Date created	2021-02-19 09:01:49 +01:00 (CET)
Date last edited	N/A

Global Variome shared LOVD