Phenotype #0000307131
| Individual ID |
00415334 |
| Associated disease |
- |
| Phenotype details |
symptoms: loss of acuity: mild; nyctalopia: no; presentation best corrected visual acuity right, left eye (Snellen): 2/5, 2/5; final best corrected visual acuity right, left eye (Snellen): 1/5, 1/10; follow up, y: 5; refraction, mean spherical equivalent: not done; neurology (age at last examination): normal (54); working diagnosis: Occult macular dystrophy; electrophysiology: central macular dysfunction only; color fundus photography: macular atrophy: altered foveal reflex only, peripheral pigmentation: no; fundus autofluorescence: central hypo-autofluorescence: initially hyper-autofluorescence, later loss of autofluorescence; ring hyper-autofluorescence: yes; peripheral hypo- autofluorescence: no; optical coherence tomography: macular atrophy: yes; other: loss of photoreceptor outer segments, preservation of the external limiting membrane, then progressive atrophy |
| Diagnosis/Initial |
- |
| Inheritance |
Familial, autosomal recessive |
| Diagnosis/Definite |
occult macular dystrophy |
| Age/Examination |
35y (35 years) |
| 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 |
2022-08-12 12:23:10 +02:00 (CEST) |
| Date last edited |
N/A |
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