Phenotype #0000307559

Individual ID	00415781
Associated disease	-
Phenotype details	6y: low vision and congenital nystagmus; 30y: no photophobia and any color discrimination difficulties; best corrected visual acuity and refraction right / left eye: 0.2, -4.50 sphere / 0.3, -2.0 sphere, -2.0 cyl x 30deg; horizontal nystagmus, with a rotator component and variable amplitude and frequency; Ishihara plates correctly identified except for plate 12 (87 instead of 97), plate 14 (6 instead of 5), and plate 73 (13 instead of 73) - mistakes may be due to reduced visual acuity as much as to any color vision deficiency; Four of six of the red-green plates in the AOHRR screening series identified, diagnostic series without mistakes; F-M D-15 tests: a few insignificant inversions; LTA and Berson's blue cone monochromacy tests: read correctly, error score of 107 with the F-M 100; in contrast, Nagel anomaloscope: protanomalous color vision defect; electroretinogram: slightly subnormal rod responses and totally absent cone responses to flicker stimulation; small rod-like signal appash stimulation on a light-adapting background; no blue cone response, narrow band-pass filtering: a flicker response near the noise level of 0.2 uV; multifocal electroretinogram: no recognizable cone pattern; remaining eye examinations normal, including biphasic dark adaptometry and Goldmann perimetry
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	incomplete achromatopsia
Age/Examination	44y (44 years)
Age/Diagnosis	-
Age/Onset	0m
Phenotype/Onset	congenital nystagmus
Protein	-
Owner name	LOVD
Database submission license
Created by	Anna Tracewska
Date created	2022-08-16 10:52:26 +02:00 (CEST)
Date last edited	N/A