Marfan Disease

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genetica

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Mechanisms of Evolution

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The Eye in Marfan Syndrome (1981)

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

globe elongation is likely due to the stretching of corneal fibers

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

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

This shows that there is variance to the disease

Lens dislocation was positively correlated with axial elongation

193 lens dislocations

flattened, but not thinned corneas

160 Patients

Patient: 0001-0302-3

Abnormal Pupillary Reactions

Minimal Optic Rim remaining OU

Irregular Iris OD, Aniridia OS

Aphakia of lens OU

Corneal Graft Rejection

46 mmgHg OD, 46 mmHg OS

Marfan Syndrome

Severe Primary Open Angle Glaucoma

46 year old African American Female

Retinal Detachment Surgery in Marfan's Syndrome (1998)

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

All patients had VA greater than 20/300

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

Retinal Detachment was bilateral in 69% of patients

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

Marfan in the Eyes

Strabismus

Cataracts

Flatter and larger corneas

Corneal Thinning

Glaucoma

Astigmatism

Severe Myopia

Retinal Detachment

Dislocated Lens

differential diagnosis

only symptom that does not normally occur in the general population

About Marfan Syndrome:

affects 1 in 5000 Americans

75% of patients inherit the disease

Many systemic effects

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

Affects fibrillin-1 protein

Genetic Disorder that affects connective tissue