1. 소아안과 Case Conference
Ap. 박신혜 / R2 김근영

2. Case 1 6m / F C.C) Tearing(OU) o/s) 출생시
P.I) 상기 6m/F 출생시부터 상기 증상 있어 local 안과 방문하여 결막염 진단
받고 수차례 치료하였으나 호전 소견 없어 further evaluation 위해 내원
Past history
BHx : 41wks-4.1kg-c/sec
No systemic disease, no developmental delay
Ocular trauma/op(-/-)
Gls(-), Eyedrops(-)

3. Ocular examination VA OD F & F well OS F & F well After sedation
IOP OD 24,27
OS 24,23 mmHg by tonopen
Corneal diameter OD H/V 13/12.5
OS H/V 13/12.5 (grossly large diameter)
Fundus C/D ratio 0.3(OU) -> not prominent
Axial length OD 24.32 OS
Pachy OD 529
OS 524

4. Impression Congenital glaucoma(OU)
R/O Nasolacrimal duct obstruction(OU)
R/O Chronic conjunctivitis(OU)
R/O Inborn errors of metabolism
R/O Intrauterine inflammations
(congenital syphilis and rubella)

5. Plan
O-BXL x 2(OU)
f/u 1month

6. Case 2 1wk / F C.C) leukocoria(OU) o/s) 출생시
1wk / F
C.C) leukocoria(OU) o/s) 출생시
P.I) 상기 1wk/F 출생시부터 상기 증상 있어 타대학병원에서
R/O congenital glaucoma(OU) 진단 받고 further evaluation 위해 내원
Past history
BHx : 41+1wks-3.88kg-c/sec
No systemic disease, no developmental delay
Ocular trauma/op(-/-)
Gls(-), Eyedrops(+) 미케란x 2(OU)

7. Ocular examination After sedation
Cornea clouding(OD<OS) c megalocornea
horizontal diameter OD 12mm
OS 13mm
AC deep(OU)
IOP OD 28, 44
OS 44, 38, 51 mmHg by tonopen
Fundus blurry visible, but flat retina(OU)
Axial length OD 19.31
OS 20.06
Pachy OD 1039 OS

8. Impression
Congenital glaucoma (OU)
R/O Aniridia

9. Plan
O-COST x 2, O-LTP x hs(OU)
수술적 치료 필요성에 대해 설명
f/u 1month

10. f/u 1month After sedation Plan IOP 30/37 mmHg by tonopen Pachy 990/970
After sedation
IOP 30/37 mmHg by tonopen
Pachy 990/970
AL 19.86/20.01
Cornea edema OD<OS
Plan
R/O Congenital aniridia associated with other ant. Segment anomaly(OU)
Gene study(PAX6, CYP1B1) -> negative finding
Keep eyerops(O-COST, O-LTP)
수술적 치료 (녹내장 수술 +/- 각막이식) 설명

11. f/u 1month Wandering nystagmus(+) by Pt’s mother After sedation Plan
Wandering nystagmus(+) by Pt’s mother
After sedation
IOP 26/30 mmHg by tonopen
Pachy 939/922
Iris visible(OU)
OD) round & mildly dilated pupil
OS) round & full dilated pupil, 주변부 iris 조직은 보임(산동제 X)
Fds blurry visible, but cupping이 뚜렷하지 않음, otherwise normal
Plan
Keep eyerops(O-COST, O-LTP)
f/u 1month

12. f/u 1month After sedation Plan IOP Pupil dilated state(stationary)
After sedation
IOP
OD 26, 27 mmHg
OS 33, 42, 37 mmHg
Pupil dilated state(stationary)
Pachy 819/824 (초진시 1039/1275)
AL 21.94/21.54 (초진시 19.86/20.01)
Corneal edema OD<OS
Fd blurry visible, disc not so deep cupping
Plan
Keep eyerops(O-COST, O-LTP)
f/u 1month OD OS

13. f/u 1month VA F&F not oberved(OU) After sedation Plan
VA F&F not oberved(OU)
After sedation
IOP 21/20 mmHg by tonopen
Pachy 765/798(1달전 819/824 )
AL 21.94/21.54
Corneal edema OD<OS
Fd blurry visible, disc not so deep cupping
Plan
Keep eyerops(O-COST, O-LTP)
PD consult for developmental delay evaluation
f/u 1month

14. f/u 2months Adm for brain evaluation Brain MRI(enhance) Plan
Adm for brain evaluation
Brain MRI(enhance)
Mildly prominent ventricles with uncertain clinacal significance
A probable Rathke cleft cyst
Plan
Keep eyerops(O-COST, O-LTP)
PD consult 결과 : 발달은 borderline -> 정기적 관찰
f/u 2months

15. f/u 2month VA F&F (+) to light Bright red reflex(OU) After sedation
VA F&F (+) to light
Bright red reflex(OU)
After sedation
Pachy 691/624
AL /24.43
Fds normal optic disc c not cupping(OU)
Plan
Keep eyerops(O-COST, O-LTP)
f/u 3months

16. Review
Congenital glaucoma

17. Classification Primary congenital (Infantile) glaucoma
- dysplasia of anterior chamber angle
- at birth or within first 3 years of life
Secondary infantile glaucoma
- associated with inflammatory, neoplastic,
hamartomatous, metabolic abnormalities, etc.
Juvenile glaucoma
- after age 3 or but before age 16

18. Epidemiology Primary congenital glaucoma Update on congenital glaucoma
Rare eye disorder which accounts for % of total blindness
Incidence of PCG is different in different populations
Western developed countries : 1 in 10,000 births
The incidence of PCG is increased when "founder effect“
The "founder effect" is a gene mutation observed in high frequency in a specific popul ation due to the presence of that gene mutation in a single ancestor or small number of ancestors
Slovakian Roms (Gypsies) : 1 in 1250
Middle East : 1 in 2500
Andhra Pradesh, India : 1 in 3300
Male is common(65%)
Usually bilateral(70%)
Update on congenital glaucoma
Indian J Ophthalmol Jan;59 Suppl:S

19. Genetics Most are sporadic
Transmitted through an autosomal recessive pattern,
with incomplete or variable penetrance
Possibly multifactorial inheritance
PCG의 유전적 경향에 대해 알아 보겠습니다.
대개 산발적으로 나타나나 가족력을 가진 환자에서 Autosomal recessive pattern

20. Pathophysiology
Impaired aqueous outflow in PCG caused by maldevelopment of anteroir chamber angle
(isolated trabeculodysgenesis)
Unassociated with any other major ocular abnormalities
Characterized by absence of ciliary body band due to translucent amorphous material that obscures trabeculum

21. Clinical Features Triad of symptoms - epiphora - photophobia
- blepharospasm
Exam
- reduced visual acuity
- buphthalmos
- corneal diameter > 12 mm
- corneal edema
- Haab’s striae
- elevated IOP
- optic disc cupping
다음은 PCG의 임상양상에 대해 살펴 보겠습니다.
3가지 대표적 증상으로 epi, pho, blepharospam이 있는데 이는 안압상승에 의한 각막상피부종으로 인해 삼차신경이 자극받아 발생한는
증상입니다. 이들은 주로 초기에 나타나는 전형적 증상입니다.
그림1 : photophobia & blepharospasm
그림2 : severe buphthalmos & severe scleral thinning

22. Clinical Features
Megalocornea / Corneal haze / Haab’s striae / Optic disc cupping

23. Clinical Features Complications - cataract - lens dislocation
- retinal detachment
- astigmatism
- myopia
- amblyopia

24. Exam Under Anesthesia Refraction, using streak retinoscope
Corneal findings: diameter, clarity, Haab's striae
A corneal diameter greater than 12 mm in the first year of life
is highly suggestive of PCG
Both the horizontal and vertical meridians are measured
separately by calipers
Corneal edema in PCG is initially simple epithelial edema due
to elevated IOP
Progresses to stromal scarring and irregular corneal astigmatism
Haab's striae
The increased IOP stretches the corneal endothelium and Descemet's membrane, resulting in breaks in these layers

25. Exam Under Anesthesia IOP
- All anesthetics alter the IOP(almost lower effect)
- exception : ketamine increases IOP
- The normal IOP in an infant is
slightly lower than in an adult,
but 21 mm Hg remains a
useful upper limit
Age, y
Mean IOP, mmHg
Birth
9.6
0-1
10.6
1-2 12
2-3
12.6
3-5
13.6
5-7
14.2
7-9
9-12
14.3
12-16
14.5

26. Exam Under Anesthesia Gonioscopy
- The Koeppe mm lens with a hand-held slit-lamp
provides a good view of the angle
- Normal newborn eye, the iris usually inserts posterior
to the scleral spur
- In PCG, the iris commonly inserts anteriorly directly
into the trabecular meshwork

27. Exam Under Anesthesia Optic nerve - normally pink with small cup
- preferential neural loss of superior and inferior poles
- cupping may be reversible if IOP lowered initially
Pachymetry
Axial length
- enlarged but may reverse with reduced IOP

28. Differential Diagnosis
Nasolacrimal duct obstruction
X-linked congenital megalocornea without glaucoma
Birth trauma
Corneal dystrophies and dysgenesis
Inborn errors of metabolism
Intrauterine inflammations
(congenital syphilis and rubella)
Optic nerve pit, coloboma, or physiologic cupping

29. Treatment
Medical
- temporizing measures to control IOP and to clear cloudy
cornea prior to surgery
- weight adjusted dosing of beta-adrenergic antagonists,
CAI’s
- avoid alpha2-adrenergic agonists under 5 years d/t apnea
- miotics is ineffective d/t increasing IOP
- occlude nasolacrimal drainage system for 2minutes
after administration
다음으로는 congenital glaucoma의 치료법에 대해 알아 보겠습니다.
확실한 치료법은 수술입니다. 하지만

30. Treatment Surgical - mainstay treatment - goniotomy for clear corneas
- trabeculotomy ab externo for hazy corneas
- success rates similar
- trabeculectomy and shunt procedures only when
goniotomy or trabeculotomy fails

31. Goniotomy Involves making a horizontal incision at the midpoint of
the superficial layers of the
trabecular meshwork
May need to be repeated
Eventual success rate is
about 85%
Results are poor if the
corneal diameter is 14mm or
more because Schlemm’s
canal obliterated

32. Trabeculotomy If corneal clouding prevents
visualization of the angle or
when repeated goniotomy
has failed
Partial thickness scleral flap
is fashioned
Schlemm canal is found and a
trabeculotome is inserted into
Schlemm canal and then rotated
into the anterior chamber
Technically highly demanding,
requires previous experience,
and good anatomical landmarks
to achieve predictable results
Schlemm canal may be difficult
to canalize because of
hypoplasia or angle anomaly

33. Prognosis Good in asymptomatic patients diagnosed before 24 months
Guarded in symptomatic patients diagnosed after 24 months even if IOP controlled after surgery

34. Developmental Glaucoma Associated With Ocular Or Systemic Abnormalities
Microphthalmos
Corneal anomalies (microcornea, megalocornea, cornea
plana, sclerocornea, corneal staphyloma)
Anterior segment dysgenesis (Axenfield-Rieger
syndrome, Peters anomaly, iridoschisis)
Aniridia
Lens anomalies (congenital cataracts, lens dislocation,
microspherophakia)
Persistent hyperplastic primary vitreous
Congenital ectropion-uvea syndrome

35. Axenfield-Rieger Syndrome
Bilateral congenital anomalies with abnormal development of neural crest tissues
(anterior chamber angle, iris, trabecular meshwork)
Autosomal dominant
50% associated with glaucoma
Posterior embryotoxon, multiple adherent peripheral
iris strands, iris hypoplasia, corectopia
Defects of teeth, maxillary hypoplasia, pituitary
abnormalities, hypospadius, redundant periumbilical skin
corectopia

36. Peters Anomaly Central corneal opacity (leukoma)
with central iris-posterior cornea
adhesions
80% bilateral
Sporadic
Leukoma is central defect in
corneal endothelium and descemet’s
Lens may be in normal position
with or without cataract, or may be
adherent to posterior cornea
Associated with heart,
genitourinary, musculoskeletal,
craniofacial anomalis,
spine abnormalities

37. Aniridia Bilateral variable iris hypoplasia that may appear to be
completely absent
Autosomal dominant PAX6
gene on chromosome 11
50-75% develop glaucoma after
rudimentary iris stump rotates
anteriorly to progressively cover
trabecular meshwork
May not occur until after
second decade
Foveal hypoplasia with pendular
nystagmus
Associated with Wilms tumor

38. Systemic Anomalies With Glaucoma
Sturge-Weber syndrome
Neurofibromatosis
Marfan syndrome
Homocystinuria
Weill-Marchesani syndrome
Trisom 21 (Down’s syndrome)
Trisomy 13 (Patau syndrome)
Trisomy 18 (Edward’s syndrome)
Turner syndrome
Lowe (oculocerbrorenal) syndrome

39. Systemic Anomalies With Glaucoma
Stickler syndrome
Zellweger (cerebrohepatorenal syndrome)
Hallermann-Streiff syndrome
Rubenstein-Taybi syndrome
Oculodentodigital dysplasia
Prader-Willi syndrome
Cockayne syndrome
Fetal alcohol syndrome

40. Secondary Glaucoma Trauma Inflammation
Retinopathy of prematurity with secondary angle-closure
glaucoma
Lens-induced glaucoma
Corticosteroid-induced glaucoma
Pigmentary glaucoma
Neoplastic glaucoma (retinoblastoma, juvenile anthogranuloma,
medulloepithelioma)
Rubella
Congenital cataract

41. Reference Indian J Ophthalmol. 2011 Jan;59 Suppl:S148-57.
녹내장 : Chapter 4 -VI 원발 선천 녹내장
Kanski 6th Edition : Chapter 13 Glaucoma
Shield 6th Edition
Update on congenital glaucoma
Indian J Ophthalmol Jan;59 Suppl:S