Rare Medical News

5 Facts you should know about

Bietti crystalline corneoretinal dystrophy

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1

A rare autosomal recessive ocular disease that involves yellow-white crystalline lipid deposits in the retina and sometimes cornea, degeneration of the retinal pigment epithelium (RPE) and sclerosis of the choroidal vessels

2

Progression of the disease ultimately results in reduced visual acuity, night blindness, visual field loss, and impaired color vision

3

Onset of the disease usually occurs from early teenage years to the third decade of life

4

As the disease progresses, legal blindness ultimately results in most patients from decreases in peripheral acuity, central acuity, or both

5

BCD is associated with mutations in the CYP4V2 gene

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