Категории: Все - symptoms - genetics - connective - eyes

по Christopher Pereira 7 лет назад

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Marfan Disease

Marfan syndrome is a genetic disorder that significantly impacts connective tissue, predominantly affecting the fibrillin-1 protein. It has a prevalence rate of 1 in 5000 Americans with 75%

Marfan Disease

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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