[MIM 210 370]

(Bietti crystalline corneoretinal dystrophy)

Very rare, but more common in East Asia, notably China and Japan. Progressive tapetoretinal degeneration with autosomal recessive transmission.

A distinction is made between

-         type 1, caused by mutations of the CYP4V2 gene (4q35),

-         type 2, rarer and linked to mutations of the RP1L1 gene (8p23.1), other mutations of which cause retinitis pigmentosa or macular dystrophy.

Both types generally present with:

-        onset between 20 and 40 years of age

-        small, yellowish, glittering crystalline deposits in the corneal limbus and posterior retina, with sclerosis of the choroidal vessels; these deposits are lipid complexes also found in circulating lymphocytes

-        progressive loss of vision, paracentral scotoma and night blindness (hemeralopia), and sometimes blindness around 50-60 years of age

Treatment: gene therapy trials for type 1

Anesthetic implications: 

reduced visual acuity, eye protection

References : 

-        Manzouri B, Sergouniotis P, Robson AG, Webster AR, Moore A.
Bietti Crystalline Retinopathy: report of retinal crystal deposition in male adolescent siblings.
Arch Ophthalmol. 2012;130:1470-3. doi:10.1001/archophthalmol.2012.1567

Updated: January 2025