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<Pediatric Ophthalmology Case Conference>
Lens Dislocation in Marfan syndrome
서울성모병원
안과 Ap.박신혜/R2박진형
임O욱
M/4
• C/C
TV를 볼 때 고개를 들고 가까이서 본다
onset) 1년 전부터
• Ocular exam
▫ VA
Ref)
OD
OD
0.02(n-c)
OS
-11.75Ds -8.25Dc Ax122’ OS
0.25(n-c)
-1.50Ds -6.25Dc Ax35’
▫ Sensory test
Ocular Lang II E (-) C (-) M (-)
Titmus Fly(-) Animal (0/3) Circle (0/9)
▫
▫
▫
▫
▫
▫
▫
EOM
Orbit
Lid
Conj.
Cornea
AC
Pupil
▫ Lens
OU
OU
OU
OU
OU
OU
Ortho at N&F by ACT, no LOM
No exophthalmos
No swelling
Not injected
Clear
Deep & cell(-)
Round & nl. sized, LR(+/+), RAPD(-/-)
OU
Clear
▫ Fundus
OD nl. Optic disc c flat macula
OS nl. Optic disc c flat macula
OD
OS
• Imp.
▫ Anisometropia
• Plan
▫ PEG
▫ 한 달 후 좌안 가림 치료시작
• OPD F/U 1mo.
▫ VA
Ref)
Ker)
AL
▫
▫
▫
▫
▫
▫
▫
EOM
Orbit
Lid
Conj.
Cornea
AC
Pupil
▫ Lens
OD
OD
OD
OD
0.06(n-c)
-12.25Ds -4.75Dc Ax126’
45.25/43.50 (WTR1.75)
24.20 mm
OU
OU
OU
OU
OU
OU
Ortho at N&F by ACT, no LOM
No exophthalmos
No swelling
Not injected
Clear
Deep & cell(-)
Round & nl. sized, LR(+/+), RAPD(-/-)
OU
mild lens dislocation to superonasally
Plan)
좌안 가림 3시간 시작
F/U 1mo.
OS
OS
OS
OS
0.5(n-c)
-1.25Ds -4.50Dc Ax32’
45.75/43.25 (WTR2.50)
21.97 mm
OPD F/U 6mo.
VA
OD (0.32)
OS (0.63)
Ref.)
OD -10.00Ds -8.50Dc Ax 129’
OS -1.50Ds
-5.75Dc Ax 35’
Iridodonesis (-)
Phacodonesis (-) /OU
Stretched
Zonule
<OD>
Plan)
PD consult for Marfan Synd.
F/U 6mo.
<OS>
Review :
Marfan syndrome
Ref. Cornea 3rd edition, Krachmer
Introduction
▫ Systemic connective tissue disorder
▫ Mutations in the fibrillin-1 gene
▫ Originally believed
- production of abnormal fibrillin-1
- structurally weaker connective tissue
Introduction
▫ Recent molecular studies
- Fibrillin-1 haploinsufficiency
- Dysregulated TGF-β signaling
altered morphogenetic and homeostatic programs
★ TGF-β antagonism : prevent and possibly reverse
aortic root dilatation, mitral valve prolapse, lung disease, and skeletal
muscle dysfunction
Abnormalities in three systems
• Ocular
▫ Ectopia lentis
• Cardiovascular
▫ Dilation of the aortic root
▫ Aneurysm of the ascending aorta
▫ Aortic aneurysm
• Skeletal
▫ Dolichostenomelia
▫ Upper segment/lower segment ratio two standard deviations below mean for
age
▫ Pectus excavatum
▫ Kyphoscoliosis
Ocular abnormality
• Subluxation of the crystalline lens
Defective fibrillin component
Lens zonules are abnormally weak
Degree of subluxation varies
Evident only on maximal pupillary dilation
Superior and temporal displacement : M/C
Inferior, nasal, or lateral movement
No progression of the displacement is noted over the years :
M/C
▫ Total dislocation into the Vit. cavity : unusual in young patients
▫
▫
▫
▫
▫
▫
▫
Ocular abnormality
▫ Zonular rupture
straightening of the lens contour : coloboma of the lens
▫ Cornea is flat with keratometric readings
high 30s in about 20% of patients
40.8 D Marfan vs 43.3 D controls
▫ associated with corneal thinning
543.5 microns (µm) Marfan vs 564.2 microns (µm) controls
Clinical diagnostic criterion
▫ Strabismic and/or anisometropic or ametropic amblyopia
responds surprisingly well to optical correction
▫ Open-angle glaucoma
▫ Cataracts develop earlier
Operation indications
▫ No correction with glasses
▫ Posterior dislocation into vitreous
▫ Secondary glaucoma (anterior dislocation) or corneal endothelial
damage
▫ Uveitis or monocular diplopia
▫ Cataracts
▫ Poor vision : high astigmatic errors
▫ Early age to avoid amblyopia
▫ Dislocation into the AC
Fatality
▫ Dissection / enlargement of the aortic root
M/C of premature death
Mouse models : mitigated by treatment with TGF-β antagonists
- also studied in humans