Phenotype #0000301969
| Individual ID |
00409853 |
| Associated disease |
- |
| Phenotype details |
nyctalopia with difficulty navigating in dimly lit environments since teenage years; in early twenties, central vision loss followed by progressive peripheral field loss and light-sensitivity; medical history: nonspecific dysautonomia, with episodes of lightheadedness, tachycardia, and diaphoresis, for which evaluations with cardiology and neurology were unrevealing of an underlying etiology; older brother diagnosed with rod-cone dystrophy 3y; deceased paternal grandfather night-blind; best-corrected visual acuity: 20/30 both eyes with moderate myopic astigmatism; normal color vision tested using the Ishihara plates; anterior segment: normal; ophthalmoscopy: macular pigment mottling, mild peripapillary atrophy and hypopigmentation vessels that appeared to be of normal caliber, peripheral retina unremarkable; fundus autofluorescence: bull's eye-like ring of hyper-autofluorescence and patchy granular hypoautofluorescence of the mid-periphery; optical coherence tomography of the fovea: intraretinal cystoid chans with mild epiretinal membranes in both eyes, outer retinal loss of the ellipsoid zone and external limiting membrane with preserved subfoveal islands; Goldmann visual field testing: less than 10 degrees of central field using a V4e target, and an inferior arcuate island of peripheral field remaining in both eyes; electroretinogram: reduction in both scotopic and photopic responses |
| Diagnosis/Initial |
- |
| Inheritance |
Familial, autosomal recessive |
| Diagnosis/Definite |
retinitis pigmentosa |
| Age/Examination |
32y (32 years) |
| Age/Diagnosis |
- |
| Age/Onset |
- |
| Phenotype/Onset |
night blindness |
| Protein |
- |
| Owner name |
LOVD |
| Database submission license |
Creative Commons Attribution 4.0 International |
| Created by |
Anna Tracewska |
| Date created |
2022-05-12 12:47:30 +02:00 (CEST) |
| Date last edited |
N/A |
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