Phenotype #0000315226

Individual ID	00424019
Associated disease	-
Phenotype details	duration of follow-up (years): 27-34; average examined age of comprehensive ophthalmic examinations: 30.3333333333333; best corrected visual acuity right, left eye (first examination; last examination; overall): -0.18, -0.18;-0.18, -0.18;-0.18, -0.18; refraction spherical equivalent right, left eye: -0.25D cyl. -0.50D, -0.25Dfine, partial white dots at midperipheral retina in both eyes; fundus autofluorescence: reduced autofluorescence in both eyes; optical coherence tomography: no abnormalities; visual field (Goldmann perimetry): normal range in both eyes; full field electroretinography: standard dark adaptation: 30-min dark adapted in both eyes, dark adapted 0.01: extinguished b-wave, dark adapted 3.0: decreased a- and b-waves with electronegative waveform, light adapted 3.0: normal a- and b-waves, 30-Hz flicker: normal b-wave, extended dark adaptation:3-hour dark adapted in both eyes, dark adapted 0.01: normal b-wave, dark adapted 3.0: normal a- and b-waves, light adapted 3.0: normal a- and b-waves, 30-Hz flicker: normal b-wave
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	retinitis punctata albescens
Age/Examination	30y4m (30 years, 4 months)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	LOVD
Database submission license
Created by	Anna Tracewska
Date created	2022-11-16 11:01:12 +01:00 (CET)
Date last edited	N/A