Ectopia Lentis

Homocystinuria

• AR, progressive
• Inferonasal lens displacement (90%).
• Marfanoid habitus

Marfan syndrome

• AD

• Fibrillin gene defect (chromosome 15) -Fibrillin is a component of zonules and lens capsule

• Superotemporallens displacement

• Associated glaucoma and RD

• Preserved accommodation

Sulfite oxidase deficiency

• AR
• Learning disability
• Universal lens subluxation

Hyperlysinaemia

• AR
• Seizures

Weill-Marchesani syndrome

• AR or AD

• Associated with ADAMTS10 gene mutation

• Brachydactyly

• High myopia

• Microspherophakia: leads to pupillary block angle closure, best managed with cycloplegia and peripheral iridotomies (and lying the patient supine)

• Inferonasal displacement

• Short stature (the ‘opposite’ of Marfans)

Familial ectopia lentis

• Autosomal recessive
• Associated slit-like iris

Other causes

• Aniridia
• Sticklers
• Ehlers Danlos
• High myopia
• Trauma
• Hypermature cataract
• Buphthalmos