Phenotype #0000306849

Individual ID	00415048
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 in the left eye of patient 6; retinas appeared healthy, with the exception of patches of hypopigmentation in the lateral fundus; no evidence of the distinctive retinal pigment epithelium pigment clumping that accompanies photoreceptor degeneration: refractive error of +14.50, an unusually short axial length of 15.45 mm, and visual acuity of 20/40 with glasses; ultrasonography: forward placement of a slightly longer lens, a vitreous cavity of half normal length, and 3.3 times the normal thickness of sclera and choroid
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	extreme hyperopia
Age/Examination	27y (27 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