Role of red free imaging, retinal reflectance and fundus autofluorescence in Bietti crystalline dystrophy: case report.
Abhidnya SurveAkshaya BalajiShorya Vardhan AzadVinod KumarRajpal VohraPradeep VenkateshPublished in: Therapeutic advances in rare disease (2020)
Bietti crystalline dystrophy is a rare familial disorder but is not shown in all family members and may skip generations, as it has an autosomal recessive pattern of inheritance. It shows refractile yellow-white crystalline deposits and degenerative changes in the retina. These crystalline deposits disappear with age while degenerative changes increase and spread from centre to the periphery. This may cause difficulty in early detection, and confusion with similar degenerative diseases of the retina. The use of various imaging modalities can help in diagnosis and follow up of these cases. These modalities also provide understanding of the basic disease process.