Corneal abnormalities

Gene: APOA1

Red List (low evidence)

Homozygous mutations in APOA1 present with severe premature coronary artery disease mild corneal arcus and opacification. Therefore distinct corneal appearance and highly unlikely that the corneal changes would be the only presenting symptom.

Created: 9 Mar 2017, 12:30 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hypoalphalipoproteinemia 604091; Amyloidosis, 3 or more types 105200

Publications

• 17991756

Comment on publications: PMID: 20616715 "Patients with lecithin: cholesterol acyltransferase deficiency have both prebeta-1 and alpha-4 HDL present in their plasma and develop corneal opacities, anemia, proteinuria, and kidney failure."

Created: 3 Mar 2017, 11:35 a.m.

Comment on publications: PMID: 22755272 patients with primary dyslipidaemia can display corneal arcus.

Created: 3 Mar 2017, 11:32 a.m.

Comment on list classification: Corneal abnormalities would be likely be secondary to presenting with Familial hypercholesterolaemia, but may be an important corneal abnormality gene.

Created: 22 Feb 2017, 10:26 a.m.