Phenotype #0000311023

Individual ID	00419743
Associated disease	-
Phenotype details	best corrected visual acuity right, left eye: 6/36, 6/36; refraction right, left eye: +0.25/-2.75175, -2.50/-2.75160; fundus: abnormal; photophobia: data not available; nystagmus: data not available; funduscopy: bilateral symmetric optic disc pallor; mild visual acuity loss and minimal refractive error; bilateral atrophic macular lesions 1–1.5-disc diameters on fundus examination, with normal optic nerve, vessels, and anterior segment; optical coherence tomography: consistent with outer segment thinning, inner retinal layer remodeling, and retinal pigment epithelium loss at the fovea and perifovea, and mild retinal thinning with otherwise normal architecture in the perimacular region; electroretinogram photopic responses: reduced in the two evaluated affected individuals; no color visi
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	achromatopsia
Age/Examination	21y (21 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	LOVD
Database submission license
Created by	Anna Tracewska
Date created	2022-10-22 11:47:35 +02:00 (CEST)
Date last edited	N/A

Global Variome shared LOVD