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Case Reports and Small Case Series
January 2000

Bietti Crystalline Retinopathy Affecting All 3 Male Siblings in a Family

Arch Ophthalmol. 2000;118(1):129-131. doi:

Three male siblings of a nonconsanguineous Chinese family exhibited characteristic retinal crystalline flecks of Bietti crystalline retinopathy (BCR). The main proband suffered from blurred and distorted vision and also had bilateral submacular scars. To our knowledge, the presence of BCR in this family demonstrated the strongest male preponderance among the reported cases in the English literature. The mode of inheritance could be X-linked recessive, but no conclusion could be made because the pedigree studied was too small.

A 38-year-old Chinese man (the main proband) was referred to our hospital in 1991 for a 1-year history of night blindness, metamorphopsia, and slowly progressive visual loss. The left eye was more severely affected. He was the second child in his family and his parents were not related (Figure 1). He was not obese and findings from the medical and drug history were normal. On examination, visual acuity was 20/70 OD and 20/100 OS. The cornea was clear with no crystals. Findings from fundus examination showed multiple fine yellow-white refractile crystalline flecks scattered throughout both of the posterior poles and the periphery of the fundi. They situated in all layers of the neurosensory retina, and some crystals lay on top of the retinal vessels. Several areas of blotchy pigment clumping were noticed in the mid-periphery. The optic discs and retinal vessels were normal. A left subretinal scar lying 1–disc diameter temporal and inferior to the fovea and a similar but somewhat fainter right scar lying about 2–disc diameters temporal to the fovea were evident (Figure 2).