Phenotype #0000299387
| Individual ID |
00406999 |
| Associated disease |
- |
| Phenotype details |
6y: best corrected visual acuity: light perception vision, hyperopia (+6.50 sphere), nystagmus, no corneal or lenticular opacities; fundus using NIR reflectance imaging: a distinctly demarcated dark central island surrounded by alternating elliptical regions of lighter and darker; the lighter regions in LCA5 P1 showed greater visibility of the choroid, suggesting depigmentation of retinal pigment epithelium; darker regions likely correspond to more preserved retinal pigment epithelium; provided further information on the retinal pigment epithelium with the use of melanosome-specific signals from the fundus; high intensity signal originates from the irregular-shaped central island, suggesting a preserved or hyperpigmented retinal pigment epithelium at this location; there was a region of lower intensity NIR-AF in the parafovea, and this likely corresponds to chorioretinal atrophic change; at greater eccentricities, there was an incremental increase; in the superotemporal and superonasal near midperiphery, there was a distinct boundary of a further increase in NIR-AF signal with a spatially homogeneous appearance, representing more retained and pigmented retinal pigment epithelium |
| Diagnosis/Initial |
- |
| Inheritance |
Familial, autosomal recessive |
| Diagnosis/Definite |
Leber congenital amaurosi |
| Age/Examination |
6y (6 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 |
2022-04-05 17:42:08 +02:00 (CEST) |
| Date last edited |
N/A |
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