Phenotype #0000306852
| Individual ID |
00415051 |
| Associated disease |
- |
| Phenotype details |
affected eyes: showed 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; retinas appeared healthy, with the exception of patches of hypopigmentation in the lateral fundus; heterozygote - possibility is that his nanophthalmos results from interaction of the MFRP heterozygote and functional polymorphisms in another gene or it is semidominant with partial penetrance related to gene dosage and to unknown genetic or environmental factors; or, somatic crossover or uniparental disomy of chromosome rendered 1143insC homozygous in the retinal pigment epithelium |
| Diagnosis/Initial |
- |
| Inheritance |
Familial, autosomal recessive |
| Diagnosis/Definite |
extreme hyperopia |
| Age/Examination |
65y (65 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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