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Genetic Disorder that affects connective tissue

Affects fibrillin-1 protein

Many systemic effects

Symptoms can occur in the heart, lungs, eyes, skin, bones and joints

75% of patients inherit the disease

affects 1 in 5000 Americans

Dislocated Lens

only symptom that does not normally occur in the general population

differential diagnosis

Retinal Detachment

Severe Myopia

Astigmatism

Glaucoma

Corneal Thinning

Flatter and larger corneas

Cataracts

Strabismus

Retinal Detachment is a known complication of Marfan Synderome

Due to the elongation of the eye which causes the vitreous to pull on the retina

Retinal Detachment was bilateral in 69% of patients

The retinas of 75% of patients remained successfully reattached after follow up

All patients had VA greater than 20/300

Retinal Detachment Surgery in Marfan's Syndrome E Abboud Retina, May 1998 Volume 18 Issue 5

46 year old African American Female

Severe Primary Open Angle Glaucoma

Marfan Syndrome

46 mmgHg OD, 46 mmHg OS

Corneal Graft Rejection

Retinal Detachment

Aphakia of lens OU

Irregular Iris OD, Aniridia OS

Minimal Optic Rim remaining OU

Abnormal Pupillary Reactions

160 Patients

flattened, but not thinned corneas

193 lens dislocations

Lens dislocation was positively correlated with axial elongation

Degree of lens dislocations was not correlated with skeletal and cardiovascular abnormalities

This shows that there is variance to the disease

Leads us to believe multiple genes and mutations are at play in the disorder

globe elongation is likely due to the stretching of corneal fibers

The eye in the Marfan syndrome. I H Maumenee Trans Am Ophthalmol Soc. 1981; 79: 684–733.