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.

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Bietti's crystalline dystrophy

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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/.