IllnessChoroideremia
Summary
Curated single gene sequence analysis according to the clinical suspicion Choroideremia
- (Extended panel: incl. additional genes)
- EDTA-anticoagulated blood (3-5 ml)
NGS +
Gene panel
Selected genes
Name | Exon Length (bp) | OMIM-G | Heredity |
---|---|---|---|
CHM | 1962 | XLD |
Informations about the disease
Choroideremia is characterized by progressive vision loss in affected males and milder symptoms in heterozygous (carrier) females. The first sign is usually night blindness, which can occur in early childhood. Progressive tunnel vision follows as well as decreased visual acuity due to cellular atrophy in the retina and the choroid. The impairment worsens variably over time, and all patients will develop blindness, most commonly in late adulthood. Mutations in the CHM gene cause choroideremia. Choroideremia is inherited in an X-linked recessive pattern. The molecular genetic diagnostic yield is not known at present. Hence a negative DNA test result does not exclude the ophthalmological diagnosis.
Reference: https://www.ncbi.nlm.nih.gov/books/NBK1337/
- Alias: Choroidal sclerosis (CHM)
- Alias: Choroideremia (CHM)
- Alias: Degeneration of choriocapillaris, retinal pigment epithelium, photoreceptors (CHM)
- Alias: Progressive tapetochoroidal dystrophy (CHM)
- Alias: Tapetochoroidal dystrophy, progressive; TCD (CHM)
- XLD
Bioinformatics and clinical interpretation
No text defined