Phenotype #0000300948
| Individual ID |
00408830 |
| Associated disease |
- |
| Phenotype details |
best corrected visual acuity right/left eye: 1.8/1.8, refraction right/left eye: -7.75 DS (spherical equivalent)/-7.25 DS (spherical equivalent) , color vision: not performed, funduscopy: cataract surgery 2012 both eyes (posterior subcapsular cataract). pale discs, attenuated vessels, widespread retinal atrophy, no increased pigmentary change both eyes, left macula demarcated circular chorioretinal atrophy lesion , autofluoresence: small island central autofluorescence remaining (2005 imaging), loss of autofluorescence corresponding to atrophy, loss of any residual normal autofluorescence (2014 imaging), optical coherence tomography: extensive loss of outer retinal layers both eyes , visual field: Humphrey Field Analyser: 30-2 programm (2006) MD R -30.28DB, L -30.17DB, generalised field loss, central 10 degrees better preserved, electroretinogram: pattern electroretinogram probably undetectable both eyes. full field: rod specific electroretinogram undetectable. cone flicker reduced amplitude and profoundly delayed, photopic single flash reduced amplitude and markedly delayed. moderately severe generalised retinal dysfunction involving both rod and cone systems. |
| Diagnosis/Initial |
- |
| Inheritance |
Familial, autosomal recessive |
| Diagnosis/Definite |
retinitis pigmentosa |
| Age/Examination |
38y (38 years) |
| Age/Diagnosis |
- |
| Age/Onset |
27y |
| Phenotype/Onset |
- |
| Protein |
significantly decreased protein level at the ciliary base |
| Owner name |
LOVD |
| Database submission license |
Creative Commons Attribution 4.0 International |
| Created by |
Anna Tracewska |
| Date created |
2022-04-28 19:35:04 +02:00 (CEST) |
| Date last edited |
N/A |
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