Phenotype #0000303253

Individual ID	00411172
Associated disease	-
Phenotype details	sectorial type RP, with involvement of the inferior half of the fundus in all affected members and with no or only mild pigmentary changes occurring along the vascular arcades above the midline; 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; normal b-wave implicit times, with only mildly decreased amplitudes, scotopic b-wave amplitudes at the lower limit of normal in the left eye and 75% of the lower normal limit in the right eye; photopic b-wave amplitude 60% of the lower normal limit in the right eye and 80% of the lower limit in the left eye; flicker response: normal
Diagnosis/Initial	-
Inheritance	Familial, autosomal dominant
Diagnosis/Definite	retinitis pigmentosa
Age/Examination	-
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