Phenotype #0000255390

Individual ID	00359985
Associated disease	-
Phenotype details	visual acuity was correctable to 20/70 + 2 in the right eye with a refraction of -3.75 +0.50 and to 20/40 - 2 in the left eye with a refraction of -2.00. Slit-lamp examination showed normal findings in the cornea, anterior chamber, iris, and lens in both eyes. The vitreous was clear. Applanation pressures were 13 mmHg in the right eye and 12 mmHg in the left eye. A fundus examination result disclosed a normal optic disc and retinal vessels in each eye. Peripapillary atrophy of the retinal pigment epithelium was noted bilaterally. The foveas showed nonspecific and mild pigment mottling. Anterior to the retinal vascular arcades, there were nonspecific regions of patchy hypopigmentation. Visual field testing showed a central scotoma in the right eye to a II-2-e test target. The peripheral boundaries were normal.
Diagnosis/Initial	cone dystrophy
Inheritance	Familial, autosomal dominant
Diagnosis/Definite	-
Age/Examination	-
Age/Diagnosis	-
Age/Onset	36y
Phenotype/Onset	-
Protein	-
Owner name	Manon Peeters
Database submission license
Created by	Johan den Dunnen
Date created	2021-04-06 16:50:09 +02:00 (CEST)
Date last edited	N/A

Global Variome shared LOVD