Opthalmology Case Presentation
Opthalmology Case Presentation
Opthalmology Case Presentation
CASE PRESENTATION
Group 2 (Bucu to Espinosa)
28/F
Decreased vision and glare in
both eyes
History of Present Illness
15 years prior to consultation
Poor vision
Started to wear eyeglasses
Eyeglasses were changed every
year
Eye grade has tendency to change
In the last 3 years
Progressive decrease in vision
Worsening glare in both eyes
Seek consult to an
ophthalmologist
Inborn eye defect
Past Medical History
Grandmother - Glaucoma
No known family members with
Graduate student
Ocular Examination
Gross examination
OU
VA (with eyeglasses)
OD: 20/40
OS: 20/50
Refraction
OD
Good ORR
Clear media
Distinct disc borders
CD ratio 0.3
A/V ratio 2:3
No hemorrhage, no exudates.
No peripheral retinal degeneration.
Clinical Course
Underwent bilateral lensectomy and
vitrectomy with iris-fixated IOL insertion.
Post operative course was unremarkable
of 13
Increase in eye grade
(yearly)
Inborn eye defect
Aortic stenosis
Clinical Impression
Marfan Syndrome with lens subluxation
Differential Diagnosis
Trauma
Homocystinuria
Sulfite oxidase deficiency
Weill-Marchesani Syndrome
Hyperlysinemia
Trauma
Physical or chemical injuries of the eye
Redness and pain of the affected eyes
Most common cause of ectopia lentis
Homocystinuria
Also known as Cystathionine beta synthase
deficiency or CBS deficiency
Elevated levels of homocysteine in the urine
Tall and thin with thinning and lengthening of the
bones
Fingers tend to be long and thin as well
(arachnodactyly)
Dislocated lenses and myopia
Sulfite Oxidase Deficiency
An inborn error of the metabolism of sulfated
amino acids
Intractable seizures (during the neonatal period)
Progressive neurologic abnormalities, lens
dislocation and mental retardation
Weill-Marchesani syndrome
Also known as Spherophakia-brachymorphia
syndrome, congenital mesodermal dystrophy and
GEMSS syndrome
Rare genetic disorder
Characterized by short stature, brachycephaly,
brachydactyly and distinctive ocular abnormalities
Unusually small, round lenses of the eyes
(spherophakia) that may be prone to dislocating
ectopia lentis
Marfan Syndrome
Marfan Syndrome
A disorder of connective tissues, manifested principally by
changes in the skeleton, eyes, and cardiovascular system.
(Robbins, 2009)
Prevalence is estimated to be 1 in 5000. (Robbins , 2009)
It is the second most common inherited connective tissue
disorder. Approximately 70% to 85% of cases are familial and
transmitted by autosomal dominant inheritance. (Robbins, 2009)
Associated with mutation in fibrillin-1 (FBN1), and
occasionally with mutation in TGFBR1 or 2. (Dean JC, 2007)
The clinical diagnosis is made using the Ghent nosology, which
will unequivocally diagnose or exclude Marfan syndrome in
86% of cases. (Dean JC, 2007)
Pathophysiology
Involves defects in the protein fibrillin 1
(FBN1) on chromosome 15, a structural
component of microfibrils found in
connective tissue throughout the body.
Inactivation of the TGF-β receptor 2
Lack of Fibrillin
localization
Abnormal cilliary
processes
Absent or severely
disorganized zonules
Lens Subluxation
Wheatley et al, 1995
Ectopia Lentis
Lens subluxation or dislocation
Abnormal ciliary processes with absent
Physical findings
Refractive instability with myopia and astigmatism
Iridodonesis
Phacodinesis
Recessed angle
Secondary complications
phacolytic uveitis from posterior subluxation of the
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