Phenotype #0000306849
| Individual ID |
00415048 |
| Associated disease |
- |
| Phenotype details |
affected eyes: prominent forward bowing of the iris and a narrow angle between iris and cornea; diameter and curvature of the cornea within normal range; retina: absence of a normal foveal pit, presence of macular folds, slight tortuosity of blood vessels in the left eye of patient 6; retinas appeared healthy, with the exception of patches of hypopigmentation in the lateral fundus; no evidence of the distinctive retinal pigment epithelium pigment clumping that accompanies photoreceptor degeneration: refractive error of +14.50, an unusually short axial length of 15.45 mm, and visual acuity of 20/40 with glasses; ultrasonography: forward placement of a slightly longer lens, a vitreous cavity of half normal length, and 3.3 times the normal thickness of sclera and choroid |
| Diagnosis/Initial |
- |
| Inheritance |
Familial, autosomal recessive |
| Diagnosis/Definite |
extreme hyperopia |
| Age/Examination |
27y (27 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 |
2022-08-06 12:23:08 +02:00 (CEST) |
| Date last edited |
N/A |
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