Opthalmology Case Presentation

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OPHTHALMOLOGY

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

 Regularly seen by a cardiologist


 Aortic stenosis
 Oral Metoprolol 100 mg OD
Family Medical History

 Grandmother - Glaucoma
 No known family members with

similar eye symptoms


Social History

 Graduate student
Ocular Examination
 Gross examination
 OU

Clear Cornea, Pupils 4 mm, equal,


briskly reactive to direct light.
No relative afferent pupillary
defect.
 VA (with no glasses)
 OD: 20/80
 OS: 20/100

 VA (with eyeglasses)

 OD: 20/40
 OS: 20/50
 Refraction
 OD

+6.75 sphere = -5.00 cylinder axis 135° 


 OS

- 5.25 sphere = - 4.25 cylinder axis 60°


 Motility

 OU: Full EOMs


 Slit Lamp Exam
 Anterior segment exam

Deep Anterior Chamber.


Note of a curvilinear line crossing the
pupil behind the iris, with visible
zonules.
 Dilated funduscopic exam:
 OU:

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

with excellent improvement of visual


function.
 Intraocular lenses have remained stable

for several years.


Examination of the extremities
Salient Features
 Progressive decrease in  Inferiorly subluxed
vision lens on slit lamp
 Worsening glare in both examination
eyes  Arachnodactyly
 Poor vision since the age

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

(TGFBR2), thought to disrupt the


integration of fibrillin into connective
tissue. 
Defect in Fibrillin
1

Lack of Fibrillin
localization

Superficial capsule and Ciliary


epithelial surface

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

or severely disorganized zonules


 Symptoms
 Fluctuating blurred vision
 Monocular diplopia and pain
 Flashes and floaters

 Physical findings
 Refractive instability with myopia and astigmatism
 Iridodonesis
 Phacodinesis
 Recessed angle

 Secondary complications
 phacolytic uveitis from posterior subluxation of the

lens to the vitreous


 Retinal detachment
 Myopia
 Hypoplastic iris with miosis
 Amblyopia
 Strabismus
 Keratoconus
 Enophthalmos
Ocular Features (Dean JC, 2007)
 Bilateral ectopia lentis (40–56%)
 Subluxation usually develops in early childhood, but
may first appear in the second decade.
 Myopia (28%)
 Associated with an increased length of the globe and
an increased risk of retinal detachment.
 Retinal detachment (0.78%)
Treatment
 Genetic testing for Marfan Syndrome and genetic
counceling
 Lens extraction for ectopia lentis with
Contact lens or IOL (anterior chamber, sutured to
sclera/iris)
 For severe subluxation

 indicated when the lens position causes irregular

astigmatism and glare, glaucoma, or in the setting of


cataract formation
 Retinal laser for detachments or tears
 Regular screen for myopia, amblyopia, strabismus,
keratoconus, and glaucoma
Prognosis
 Displacement of the lens often results only in
optical problems. In some cases, however, more
serious complications may develop, such as
glaucoma, uveitis, retinal detachment, or cataract
Source
 Robbins and Cotran Pathologic Basis of Disease. 8 th ed. 2009.
 Kliegman: Nelson Textbook of Pediatrics, 18th ed. 2007.
 Yanoff & Duker: Ophthalmology, 3rd ed. 2008.
 Firestein: Kelley's Textbook of Rheumatology, 8th ed. 2008.
 Dean JC. Marfan syndrome: clinical diagnosis and management. Eur J Hum Genet. 2007.
 Wheatley H, Traboulsi E and Flowers B et al. Immunohistochemical localization of fibrillin
in human ocular tissues. Relevance to the Marfan syndrome. Arch Ophthalmol 1995.
 Meire F, Delleman W and Bleeker-Wagemakers E. Ocular manifestations of congenital
Marfan syndrome with contractures (CMC syndrome). Ophthalmic Paediatr Genet 1991
 Fuchs J.  Marfan syndrome and other systemic disorders with congenital ectopia lentis.  A
Danish national survey.
 Martin Heur. The Value of Keratometry and Central Corneal Thickness Measurements in the
Clinical Diagnosis of Marfan Syndrome. American Journal of Ophthalmology. 2007.

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