Phenotype #0000305191
| Individual ID |
00413210 |
| Associated disease |
- |
| Phenotype details |
ophthalmic findings: photophobia, reduced vision, strabismus and jiggling eyes since very early childhood; best corrected visual acuity: 20/200 in both eyes without progression over the observed time period (4 to 8y); cycloplegic etinoscopy: high hyperopia of +8.0 Dpt to +9.0 Dpt; orthoptic evaluation: fully accommodative esotropia; ophthalmoscopy: macular changes (Bull's eye maculopathy) and a pale optic disc; electroretinogram 8y: reduced rod responses and nonrecordable cone responses; dental findings: all primary teeth opaque yellow-brown; radiographically, enamel could not be distinguished from dentin; at the time of eruption, the pulp chambers of the permanent molars appeared rather large, but once teeth had arrived in occlusion, the size of the pulp cavities became inconspicuous; microscopically, enamel existed in all teeth, but was significantly reduced in thickness to values between 83% and 6% of control measurements, mineral density of enamel was also significantly reduced - on the average by about0-15%; mineral deficiency was not uniform, but varied markedly between and within affected teeth and seemed to be particularly prominent in the middle parts of the enamel layer; borders between prisms were much wider and mineralized less densely than in healthy enamel; concentration of Ca in the enamel significantly reduced, although the Ca/P molar ratio was significantly elevated; Mg/P molar ratio significantly increased, largely due to an abnormally high Mg content; large parts of the enamel surface along the entire crowns of affected teeth were covered with thin, mineralized deposits with a layered structure and a degree of mineralization between those of enamel and dentin covered invariably by a thick layer of dental plaque; the proportions of peritubular and intertubular dentin as well as the course and proportion of dentinal tubules were similar, the mineral density was significantly reduced in both types of affected dentin; mineralization deficiency was less pronounced than in enamel and seemed to concern particularly the peripheral and middle parts of the dentin; Ca concentration did not differ significantly from that of control teeth, but the Ca/P molar ratio was significantly raised, and unlike in enamel, the Mg/P molar ratio was significantly reduced due to a marked reduction in the Mg content |
| Diagnosis/Initial |
- |
| Inheritance |
Familial, autosomal recessive |
| Diagnosis/Definite |
Jalili Syndrome |
| Age/Examination |
- |
| 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 11:24:57 +02:00 (CEST) |
| Date last edited |
N/A |
|
Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.
|
