Phenotype #0000288819
| Individual ID |
00395621 |
| Associated disease |
- |
| Phenotype details |
best corrected visual acuity 0.3, 20/40 Snellen equivalent, both eyes. Slightly paler optic discs, moderately attenuated retinal vessels, few pigment deposits peripherally in both eyes and near the optic disc in the right eye, yellowish colored macula were observed in the fundus. fundus autofluorescence: generalized thinning of RPE with punctate salt and pepper-like appearance peripherally and hyperfluorescence in the center of the macula in both eyes. Optical coherence tomography: abnormal foveolar contour with retinal thinning of macular areas in both eyes, centrally and more peripherally located scotomas found on visual field testing, full-field electroretinography: severely affected photopic response- reduced amplitudes and prolonged latencies, scotopic response also pathological although milder. |
| Diagnosis/Initial |
- |
| Inheritance |
Familial, autosomal recessive |
| Diagnosis/Definite |
retinitis pigmentosa, optic atrophy, cataracts, hearing impairment |
| Age/Examination |
26y (26 years) |
| Age/Diagnosis |
- |
| Age/Onset |
24y |
| Phenotype/Onset |
gradual loss of vision and photophobia |
| Protein |
- |
| Owner name |
LOVD |
| Database submission license |
Creative Commons Attribution 4.0 International |
| Created by |
Anna Tracewska |
| Date created |
2021-12-08 14:58:54 +01:00 (CET) |
| Date last edited |
N/A |
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