Phenotype #0000306850

Individual ID	00415049
Associated disease	-
Phenotype details	affected eyes: prominent forward bowing of the iris and a narrow angle between iris and cornea; diameter and curvature of the cornea within normal range; retina: absence of a normal foveal pit, presence of macular folds, slight tortuosity of blood vessels; retinas appeared healthy, with the exception of patches of hypopigmentation in the lateral fundus; electroretinogram: normal, dark-adaptation kinetics: moderate anomalies, cone photoreceptors adapted significantly more slowly, and once dark-adapted, they were 10 times less sensitive than normal; rods also adapted more slowly, although once dark-adapted they were as sensitive to dim light as a normal eye
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	extreme hyperopia
Age/Examination	21y (21 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	LOVD
Database submission license
Created by	Anna Tracewska
Date created	2022-08-06 12:23:08 +02:00 (CEST)
Date last edited	N/A

Global Variome shared LOVD