Phenotype #0000304816

Individual ID	00412830
Associated disease	-
Phenotype details	unilateral RP; visually asymptomatic;retinal signs as an incidental observation; best-corrected visual acuity of 20/30 both eyes; anterior segment examination of both eyes: posterior subcapsular cataracts; funduscopy: narrow arterioles, retinal pigment epithelial atrophy and bone-spicule intraretinal pigment deposition in all quadrants of the peripheral retina in the right eye with sparing of the macular region - left fundus completely normal; no abnormality of color vision (Hardy-Rand-Rittler and Ishihara pseudoisochromatic charts) in either eye; Goldmann peripheral fields: normal in the right eye but showed generalized constriction to 10deg transversely with a III4e target in the left; fundus autofluorescence of the right eye showed patchy hypofluorescence in the midperipheral retina and a hyperfluorescent ring in the macular region; the left eye was normal; optical coherence tomographic findings left eye: normal, right eye: preservation of the outer retinal architecture in the foveal and parafoveal regions with loss in the more peripheral macula; full-field electroretinogram (ERG) of the left eye: normal, right eye: undetectable rod-specific findings; a delayed and markedly subnormal bright-flash ERG a-wave and proportional b-wave, markedly subnormal but not delayed results on 30-Hz flicker and single-flash photopic ERGs; pattern ERG: bilaterally normal; electro-oculogram light rise: undetectable on the right and normal on the left
Diagnosis/Initial	-
Inheritance	Familial, autosomal dominant
Diagnosis/Definite	retinitis pigmentosa
Age/Examination	63y (63 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	LOVD
Database submission license
Created by	Anna Tracewska
Date created	2022-07-05 15:25:41 +02:00 (CEST)
Date last edited	N/A