GTR Home > Conditions/Phenotypes > Bietti crystalline corneoretinal dystrophy

Disease characteristics

Excerpted from the GeneReview: Bietti Crystalline Dystrophy
Bietti crystalline dystrophy (BCD) is a chorioretinal degeneration characterized by the presence of yellow-white crystals and/or complex lipid deposits in the retina. Progressive atrophy and degeneration of the retinal pigment epithelium (RPE)/choroid lead to symptoms similar to those of other forms of retinal degeneration that fall under the category of retinitis pigmentosa and allied disorders, namely: reduced visual acuity, poor night vision, abnormal retinal electrophysiology, visual field loss, and often impaired color vision. Marked asymmetry between eyes is common. Onset is typically during the second to third decade of life, but ranges from the early teenage years to beyond the third decade. With time, loss of peripheral visual field, central acuity, or both result in legal blindness in most, if not all, affected individuals.

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Associated genes

Clinical features

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  • Constricted visual fields
  • Retinal degeneration
  • Choroidal sclerosis
  • Abnormality of blood and blood-forming tissues
  • Progressive night blindness
  • Marginal corneal dystrophy
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