Phenotype #0000305215
| Individual ID |
00413234 |
| Associated disease |
- |
| Phenotype details |
nystagmus; photophobia; best corrected visual acuity at presentation right; left eye: 20/200, 20/200, at follow-up visit: light perception, light perception; fundus: pale discs, severe macular atrophy, attenuated vessels, peripheral retinal pigmentary changes bilaterally; spectral domain optical coherence tomography: extremely disrupted central retinal layers with evidence of traction and foveal schisis in both eyes; fundus autofluorescence:marked hypoautofluorescence centrally; dental history was in keeping with a diagnosis of amelogenesis imperfecta; milk teeth began developing at 7m, yellowish in color at the time; permanent teeth, also with yellowish coloration, removed and replaced with artificial dentition at 26y |
| Diagnosis/Initial |
Leber congenital amaurosis |
| Inheritance |
Familial, autosomal recessive |
| Diagnosis/Definite |
Jalili Syndrome |
| Age/Examination |
38y (38 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 |
2022-07-12 17:17:28 +02:00 (CEST) |
| Date last edited |
N/A |
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