1. Lens Dislocation in Marfan syndrome
<Pediatric Ophthalmology Case Conference>
Lens Dislocation in Marfan syndrome
서울성모병원
안과 Ap.박신혜/R2박진형

2. 임 O 욱 M/4
C/C
TV를 볼 때 고개를 들고 가까이서 본다
onset) 1년 전부터

3. Ocular exam Lens OU Clear VA OD 0.02(n-c) OS 0.25(n-c)
Ref) OD Ds Dc Ax122’ OS Ds Dc Ax35’
Sensory test
Ocular Lang II E (-) C (-) M (-)
Titmus Fly(-) Animal (0/3) Circle (0/9)
EOM Ortho at N&F by ACT, no LOM
Orbit OU No exophthalmos
Lid OU No swelling
Conj. OU Not injected
Cornea OU Clear
AC OU Deep & cell(-)
Pupil OU Round & nl. sized, LR(+/+), RAPD(-/-)
Lens OU Clear

4. Fundus OD nl. Optic disc c flat macula OS nl. Optic disc c flat macula
OD OS

5. Imp.
Anisometropia
Plan
PEG
한 달 후 좌안 가림 치료시작

6. OPD F/U 1mo. Lens OU mild lens dislocation to superonasally Plan)
VA OD 0.06(n-c) OS 0.5(n-c)
Ref) OD Ds Dc Ax126’ OS Ds Dc Ax32’
Ker) OD /43.50 (WTR1.75) OS /43.25 (WTR2.50)
AL OD mm OS mm
EOM Ortho at N&F by ACT, no LOM
Orbit OU No exophthalmos
Lid OU No swelling
Conj. OU Not injected
Cornea OU Clear
AC OU Deep & cell(-)
Pupil OU Round & nl. sized, LR(+/+), RAPD(-/-)
Lens OU mild lens dislocation to superonasally
Plan)
좌안 가림 3시간 시작
F/U 1mo.

7. OPD F/U 6mo. <OD> Stretched Zonule <OS> VA OD (0.32)
Ref.) OD Ds Dc Ax 129’
OS Ds Dc Ax 35’
Iridodonesis (-) Phacodonesis (-) /OU
<OD>
Stretched Zonule
Plan)
PD consult for Marfan Synd.
F/U 6mo.
<OS>

8. Review : Marfan syndrome Ref. Cornea 3rd edition, Krachmer

9. Introduction Systemic connective tissue disorder
Mutations in the fibrillin-1 gene
Originally believed
- production of abnormal fibrillin-1
- structurally weaker connective tissue
15번 염색체

10. 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
15번 염색체
조작으로 또는 돌연변이로 한쪽의 유전자가 망가진 경우, 정상적인 단백질을 만들고 아무 이상이 없으면 haplosufficiency라고 부르고 다른점이 있다면 이것을 haploinsufficiency라고 부른다.
morphogenetic 한글:  형태형성

11. 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
Ectopia lentis수정체 편위
Dolichostenomelia 거미팔다리증
Upper segment/lower segment ratio two standard deviations below mean for age
Pectus excavatum 오목가슴
Kyphoscoliosis 척추측후만증

12. 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
In most patients

13. 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 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
microspherophakia 한글:  공모양작은수정체(증)
Ametropic 굴절이상
녹내장은 연령에 비례

14. 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

15. 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