autosomal dominant isolated ectopia lentis 1

An isolated ectopia lentis that has_material_basis_in heterozygous mutation in the FBN1 gene on chromosome 15q21.

Signs and symptoms

• Shallow anterior chamber
• Microspherophakia
• Ectopia lentis
• Myopia
• Striae distensae
• Joint hypermobility
• Reduced upper to lower segment ratio
• Retinal detachment
• Glaucoma
• Arachnodactyly

Also known as: ECTOL1