Phenotype #0000303252

Individual ID	00411171
Associated disease	-
Phenotype details	sectorial type RP, with involvement of the inferior half of the fundus and with moderate pigmentary changes occurring along the vascular arcades above the midline 40y; most severely affected; visual field loss corresponded to the altitudinal distribution of the retinal pigmentary changes, maintaining a central island of 5deg to 10deg and also an arc of inferior visual field between about 20deg and 60deg from fixation; dark adaptation: abnormal, elevation of rod thresholds by between 2 and 3.5 log units, when the less-affected superior retina (30deg above the fovea) was stimulated, dark adaptation thresholds were 1 log unit lower than when the more affected paracentral retina had test stimuli presented; electroretinography: recordable traces, with a greater decrease of b-wave amplitudes for photopic testing than for scotopic testing; 43y photopic and scotopic b-wave implicit times within normal limits, photopic b-wave amplitudes unrecordable in the left eye and only 20% of normal in the right eye; scotopic b-wave amplitudes decreased to 50% of the lower limit of normal in the right eye and to 80% of the lower limit of normal in the left eye; flicker response markedly attenuated
Diagnosis/Initial	-
Inheritance	Familial, autosomal dominant
Diagnosis/Definite	retinitis pigmentosa
Age/Examination	43y (43 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	nyctalopia
Protein	-
Owner name	LOVD
Database submission license
Created by	Anna Tracewska
Date created	2022-06-06 10:55:17 +02:00 (CEST)
Date last edited	N/A