Phenotype #0000300070
| Individual ID |
00407940 |
| Associated disease |
- |
| Phenotype details |
6y: best corrected visual acuity right/left eye: 0.07 / 0.4, refraction uncorrectable / 0 DS and -1.5 DC ax 160 deg; ophthalmoscopy: diffuse retinal degeneration especially severe in the macula; fundi reticulated before the age 10 years; macular degeneration gradually spread, a posterior staphyloma developed and progressed in both eyes; central vision decreased to hand motion in late teens 22y: peripheral vision but no cataracts in both eyes; full-field electroretinograms, optical coherence tomography: non-recordable single-bright flash electroretinograms, barely recordable flicker electroretinograms, and deep excavation and thin retina at the posterior pole of both eyes; axial length right/left eye: 23.82 +/- 0.05 mm / 24.06 +/- 0.02 mm |
| Diagnosis/Initial |
- |
| Inheritance |
Familial, autosomal recessive |
| Diagnosis/Definite |
retinitis pigmentosa |
| Age/Examination |
22y (22 years) |
| Age/Diagnosis |
6y |
| Age/Onset |
5y |
| Phenotype/Onset |
visual difficulties |
| Protein |
- |
| Owner name |
LOVD |
| Database submission license |
Creative Commons Attribution 4.0 International |
| Created by |
Anna Tracewska |
| Date created |
2022-04-11 09:44:38 +02:00 (CEST) |
| Date last edited |
N/A |
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