Phenotype #0000312631
| Individual ID |
00421392 |
| Associated disease |
- |
| Phenotype details |
poor central vision and light sensitivity; best corrected visual acuity right, left eye: at distance 20/200, 20/160; refraction right, left eye: +1.00 + 4.50x109, - 0.25 + 4.25x069; mild end-gaze nystagmus and orthophoria; anterior segment exam: unremarkable; fundus exam: bull's eye maculopathy, perivascular, segmental pigment deposition in the inferior retina, and mild vascular attenuation; optical coherence tomography: loss of the ellipsoid zone in the fovea, fundus autofluorescence imaging: hypofluorescent sector corresponding to the areas of retinal atrophy and pigment deposition; color vision testing by Farnsworth D15: multiple axis errors; Goldmann visual fields: superior constriction, and loss of the I1e isopter centrally, consistent with the retinal changes inferiorly; scotopic electroretinogram: mildly diminished amp delayed implicit times, photopic bright flash and flicker electroretinogram: extinguished; dental examination: crowns on multiple teeth and the absence of enamel; no systemic abnormalities |
| Diagnosis/Initial |
- |
| Inheritance |
Familial, autosomal recessive |
| Diagnosis/Definite |
Jalili Syndrome |
| Age/Examination |
16y (16 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 |
2022-11-04 13:33:06 +01:00 (CET) |
| Date last edited |
N/A |
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