fish eye disease

fish eye dis·ease

[MIM*136120]
an inherited disorder resulting in low HDL cholesterol and corneal opacities; also, low LCAT activity.
A rare autosomal dominant [MIM 136120] condition with intense corneal opacification and vague non-specific ASHD-related cardiac disease
Lab Decreased HDL-C, increased TGs—2.8-4.0 mmol/L, US: 250-350 mg/dL—increased cholesterol—8.7-13.8 mmol/L, US: 340-540 mg/dL
Management The rarity of the condition makes it difficult to assess effects of therapy; kidney transplantation is required for those receiving long-term dialysis; liver transplantation might be effective, but hasn’t been tried
Pathogenesis Defective esterification of free cholesterol into HDL