Phenotype #0000304839
| Individual ID |
00412853 |
| Associated disease |
- |
| Phenotype details |
general recessive patients description: myopic, with a mean spherical equivalent of -6.26 diopters +/- 5.41 (range -1.00 to -13.75); 20y: visual acuity < 0.5 on average and < 50 % of remaining visual field in average; scotopic and photopic electroretinograms: unrecordable (3) or only traces (1 patient); moderate decrease in visual acuity during the second decade (from 1 to 0.18), dramatic decrease in the third decade (from 0.75 to light perception); peripheral visual field: decreased to a tubular vision in the third decade, 20y: fundus: typical bone spicule-shaped pigment deposits covering more or less densely the entire periphery; variable degree of narrowing of retinal vessels; photoreceptor inner/outer segment layer was observable only in the fovea in the second decade and disappeared with a severe thinning of the macula in the third decade; only this patient - 29y: moderate macular involvement, bilateral epiretinal membrane |
| Diagnosis/Initial |
- |
| Inheritance |
Familial, autosomal recessive |
| Diagnosis/Definite |
retinitis pigmentosa |
| Age/Examination |
- |
| Age/Diagnosis |
- |
| Age/Onset |
- |
| Phenotype/Onset |
- |
| Protein |
- |
| Owner name |
LOVD |
| Database submission license |
Creative Commons Attribution 4.0 International |
| Created by |
Anna Tracewska |
| Date created |
2022-07-06 10:21:08 +02:00 (CEST) |
| Date last edited |
N/A |
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