Phenotype #0000305303

Individual ID	00413324
Associated disease	-
Phenotype details	33y: best corrected visual acuity right, left eye: 20/200, 20/80; refraction right, left eye: -2.00 +3.00 x 095; -2.00 +3.00 x 082; 38y: best corrected visual acuity right, left eye dropped 20/320, 20/250; 42y: 20/400, 20/ 400; 45y: 20/500, 20/500; Humphrey visual fields: dense central scotoma which enlarged over time with near normal sensitivity in the peripheral retina; elevated visual thresholds 7deg below fixation following 45 min of dark-adaptation: 0.1 log unit 33y, within normal limits 38 and 32y, 45y: elevated 0.1 log unit; full-field electroretinography: rod responses reduced 40% in amplitude compared to the lower limit of normal, and borderline delayed in b-wave implicit time (89.6 ms vs. upper limit of normal of 88.2 ms), mixed rod and cone combined electroretinograms: reduced 40% in amplitude (compared to the lower limit of normal; cone responses to the 30 Hz flicker: reduced 65% in amplitude compared to the lower limit of normal, b-wave implicit time of 34.4 ms - only slightly delayed relative to the upper limit of normal (31.5 ms), single-flash cone electroretinogram: 70% reduced in amplitude and borderline normal in b-wave implicit time; 12 years of follow-up: rod responses fluctuated in amplitude but showed no clear trend toward progression, cone responses declined progressively at a slow rate of 0.66 lV (5%) per year, full recovery functions compared to the representative normal subject: (Tsat = 520 ms) and a mean normal of 490.1 ± 111.2 ms - 889 ms - large delay
Diagnosis/Initial	-
Inheritance	Familial, autosomal dominant
Diagnosis/Definite	cone dystrophy
Age/Examination	45y (45 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	LOVD
Database submission license
Created by	Anna Tracewska
Date created	2022-07-15 11:57:28 +02:00 (CEST)
Date last edited	N/A

Global Variome shared LOVD

MIEN1 (migration and invasion enhancer 1)

Phenotype #0000305303