Phenotype #0000305207
| Individual ID |
00413226 |
| Associated disease |
- |
| Phenotype details |
5-6y: presented with low visual acuity (0.05-0.1), hypermetropic astigmatism (of 2.5-3.0 cyl D), total inability to distinguish colors, and visual field constriction; fundi: pale optic discs and round, dystrophic changes in the central maculae with pigment rearrangements; visual acuity gradually decreased to counting fingers from 1.5 m - 20y, and hand movements - 25y; >20y: extensive retinochoroidal atrophy of both maculae, narrowing of the retinal vessels, secondary optic nerve atrophy, and pigment deposits in the peripheral retina; bilateral posterior subcapsular cataracts; night vision getting worse, but still better than in bright light; concentric narrowing of the visual fields (7-10deg); optical coherence tomography: flat foveae profile, photoreceptor atrophy, disturbed retinal layer structure; flash electroretinogram: totally extinguished photopic and scotopic responses, multifocal electroretinogram: no central maculae responses; ocular ultrasound: optic disc drusen and vitreous focal condensations; tooth enamel hypoplasia in early childhood; amelogenesis imperfecta (hypomineralization coexisting with hypoplasia) - teeth had a characteristic yellow-brown color, with clear enamel defects, abraded incisors were abraded; radiology: characteristic foci of hypomineralization of hard tooth structure, excessive resorption (shortening) of the incisor roots, and periodontitis; bone resorption visible at the mesial root of tooth 46 and between the roots of teeth 44 and 45; apparent muscular overgrowth of the legs not observed in the other family members |
| Diagnosis/Initial |
- |
| Inheritance |
Familial, autosomal recessive |
| Diagnosis/Definite |
Jalili Syndrome |
| Age/Examination |
23y (23 years) |
| Age/Diagnosis |
- |
| Age/Onset |
0m |
| Phenotype/Onset |
congenital nystagmus, photophobia appeared later in infancy |
| Protein |
- |
| Owner name |
LOVD |
| Database submission license |
Creative Commons Attribution 4.0 International |
| Created by |
Anna Tracewska |
| Date created |
2022-07-12 15:08:53 +02:00 (CEST) |
| Date last edited |
N/A |
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