Bietti’s crystalline dystrophy [1 gene]

Bietti crystalline chorioretinal dystrophy is an autosomal recessive retinal dystrophy that presents in the third decade. It is caused by genetic variants in the CYP4V2 gene, and at a pathophysiological level lipid metabolism is abnormal. It is characterized by numerous, small, bright crystalline deposits in the posterior retina and may also occur in the corneal limbus, in addition to sclerosis of the choroidal vessels. Patients progressively develop decreased vision, nyctalopia, and paracentral scotomas.

Unknown

Request study Informed consent
Steps to follow
Steps to follow

How to order

1. Download & fill out

Please cover as many fields as possible in both documents

2. Sample collection

Three sample types: saliva, peripheral blood or genomic DNA

3. Pack the sample

Please pack the sample in a way to prevent leakage

4. Send the sample & the request

Please schedule the delivery for Monday–Friday: 8am – 5pm

5. Result: the report

Via: e-mail and/or through the customer portal

Ask for information
Solicita información de

Bietti's crystalline dystrophy

"*" indicates required fields

Consentimiento*
This field is for validation purposes and should be left unchanged.
Technique: Exome

Turnaround time (TAT):

Ref. S-202313100

Bietti’s crystalline dystrophy: View panel
  • CYP4V2

Priority Genes : Genes where there is sufficient evidence (clinical and functional) to consider them associated with the disease; they are included in the clinical practice guidelines.
Secondary Genes: Genes related to the disease, but with a lower level of evidence or that constitute sporadic cases.
* Candidate Genes: Not enough evidence in humans, but potentially associated with the disease.

Phenotypes

Bietti’s crystalline dystrophy

References

  1. Online Mendelian Inheritance in Man, OMIM®. Johns Hopkins University, Baltimore, MD. MIM Number: {210370}: {11/01/2016}: . World Wide Web URL: https://omim.org/.