Phenotype #0000305170
| Individual ID |
00413189 |
| Associated disease |
- |
| Phenotype details |
cone-rod dystrophy with amelogenesis imperfecta; photophobia, pendular nystagmus; highly hypermetropic, low visual acuity - best corrected visual acuity right, left eye: 20/200, 20/100; fundus: optic disk pallor, narrow vessels, macular atrophy with pigment mottling, and peripheral deep white dot deposits mainly in the lower and nasal retina; peripheral bone spicules concomitant with a superior and temporal scotoma on static perimetry; fundus autofluorescence: markedly decreased macular autofluorescence due to atrophy as well as severe retinal pigment epithelium changes in the inferior and nasal peripheral retina with levels of increased and decreased autofluorescence; optical coherence tomography: decreased foveal and retinal thickness, attenuation of retinal lamination suggesting extensive loss of retinal cells, and hyperreflectivity in the choroid due to retinal pigment epithelium and choriocapillaris atrophy; electroretinogram: full-field - nonrecordable; scotopic conditions, b-wave amplitudes markedly reduced, slightly delayed culmination time of the b-wave; 7 year follow up - the remaining scotopic b-wave dropped by 40% of the lower limit for the age; teeth: decidual and permanent teeth affected, dysplastic and yellow and brown in color, showing no enamel layer and numerous carious lesions, mandibular cyst that contained the two lower incisors and one premolar; neurological and cognitive examination: normal |
| Diagnosis/Initial |
- |
| Inheritance |
Familial, autosomal recessive |
| Diagnosis/Definite |
Jalili Syndrome |
| Age/Examination |
- |
| Age/Diagnosis |
- |
| Age/Onset |
14y |
| Phenotype/Onset |
poor vision |
| Protein |
- |
| Owner name |
LOVD |
| Database submission license |
Creative Commons Attribution 4.0 International |
| Created by |
Anna Tracewska |
| Date created |
2022-07-11 19:52:20 +02:00 (CEST) |
| Date last edited |
N/A |
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