Transcript 17590: Characterizing the Phenotypic Spectrum of Peters Anomaly

Characterizing the Phenotypic Spectrum of
Peters Anomaly: From Mild to Severe Disease
Kamiar Mireskandari, MBChB,
FRCSEd, FRCOphth, PhD
Uri Elbaz, MD
Hermina Strungaru, MD, PhD
Asim Ali, MD, FRCSC
Department of Ophthalmology and Vision Sciences, The Hospital for
Sick Children, University of Toronto, Toronto, Ontario, Canada
The authors have no financial interest to disclose
PURPOSE
 In this imaging-based study, we aim at describing the diverse clinical
spectrum of patients with Peters anomaly using different anterior segment
imaging modalities and further categorize the disease according to existing
anatomical abnormalities while conforming to the traditional classification.
 We propose a phenotype based treatment algorithm that helps in tailoring
management strategy (please refer also to e-poster 17504 “Clinical and
Visual Outcomes of Children With Peters Anomaly”).
 This can promote standardization of future studies involving Peters
anomaly phenotype and outcomes.
METHODS
 The charts of all children diagnosed with Peters anomaly between 2000 to
2013 at the Hospital for Sick Children Toronto, Canada were reviewed
retrospectively.
 Anterior segment color photographs, anterior segment OCT images and
UBM images were taken and served to assess structural morbidity.
 Main Outcome Measures: Laterality, location of corneal opacity, grade
of corneal opacity density, presence of iris adhesions, lens involvement,
presence of central corneal vessels, anterior conjunctival insertion,
microphthalmos and posterior stromal thinning at first visit as well as
associated systemic findings.
METHODS
Patients with no lens involvement were classified as
type I disease that was further sub-classified
according to corneal opacity location and size.
Mild Type I -
peripheral corneal opacity not involving visual axis.
Moderate Type I - paraxial corneal opacity involving less than 180 degrees of the
central 3 mm of the visual axis or ≤ 3 mm axial corneal opacity.
Severe type I –
large corneal opacity occupying over 3 mm of the central cornea.
 Patients with lens involvement i.e. cataract, keratolenticular
adhesions or apposition, aphakia or lens remnant were
classified as type II disease.
Type II disease was also further classified according to corneal opacity size;
small axial opacity of ≤ 3 mm
or large axial opacity.
OCULAR CHARACTERISTICS AT PRESENTATION
Total eyes
n (%)
Peters I
n (%)
Peters II
n (%)
p-Value
n=80 (100) n=57 (71.3) n=23 (28.8)
Cornea opacity location
Large axial (>3mm)
Small axial (≤3mm)
Paraxial
Peripheral
Cornea opacity density
Opaque
Translucent
Central corneal vascularization
Anterior conjunctival insertion
Iridocorneal adhesions
Keratolenticular adhesions
Posterior corneal thinning
Microphthalmos
Iris hypoplasia
Aniridia
Congenital anterior staphyloma
Iris coloboma
Congenital cataract
Retinal abnormalities
Optic nerve abnormalities
47 (58.8)
14 (17.5)
10 (12.5)
9 (11.3)
30 (52.6)
8 (14.0)
10 (17.5)
9 (15.8)
17 (73.9)
6 (26.1)
0 (0)
0 (0)
0.08
0.19
0.03
0.04
56 (70.0)
16 (20.0)
16 (20.0)
32 (40.0)
69 (86.3)
17 (21.3)
29 (36.3)
22 (27.5)
11 (13.8)
2 (2.5)
2 (2.5)
8 (10.0)
18 (22.5)
21 (26.3)
5 (6.3)
38 (66.7)
11 (19.3)
6 (10.5)
20 (35.1)
48 (84.2)
0 (0)
17 (29.8)
10 (17.5)
7 (12.3)
0 (0)
1 (1.8)
3 (5.3)
0 (0)
11 (19.3)
3 (5.3)
18 (78.3)
5 (21.7)
10 (43.5)
12 (52.2)
21 (91.3)
17 (73.9)
12 (52.2)
12 (52.2)
4 (17.4)
2 (8.7)
1 (4.3)
5 (21.7)
18 (78.3)
10 (43.5)
2 (8.7)
0.3
0.8
0.0008
0.16
0.4
NA
0.06
0.001
0.54
0.02
0.5
0.03
NA
0.03
0.57
A SUMMARY OF SYSTEMIC ABNORMALITIES ASSOCIATED
WITH PETERS ANOMALY
# of
patients
Congenital heart defects
Dysmorphic facial features
Growth retardation (short stature and limbs)
Renal abnormalities
Central nervous system abnormalities
Developmental delay
Skeletal abnormalities
Hearing loss
Cleft palate
Endocrinology abnormalities
Gastrointestinal diseases
Umbilical hernia
Seizure disorder
Syndactyly
Cleft lip
Others (Omphalocele)
10
7
7
6
6
6
5
4
3
3
3
3
2
2
1
1
% (of total patients
with systemic
abnormalities) n=18
55.6
38.9
38.9
33.3
33.3
33.3
27.8
22.2
16.7
16.7
16.7
16.7
11.1
11.1
5.6
5.6
% (of total
patients)
n=54
18.5
13.0
13.0
11.1
11.1
11.1
9.3
7.4
5.6
5.6
5.6
5.6
3.7
3.7
1.9
1.9
Mild Peters anomaly type I disease. Front and angle view Retcam images of patient 1 right eye show mild
peripheral opacity (A) and iridocorneal adhesions (B), respectively. OCT image (C) shows peripheral posterior
thinning. Retcam front view of patient 2 right eye shows peripheral inferotemporal opacity (D) and angle view
shows isolated small based iridocorneal adhesion (E).
Patient 1 (OD)
A
B
F
C
Patient 2 (OD)
D
E
Moderate Peters anomaly type I disease. Front (A, E, H, I , K, L, O), slit (B, F, M), angle (C, G, J, P), and OCT
(D, N, Q) images showing iridocorneal adhesions and paracentral or small central corneal opacity that can be treated by
pharmacological pupil dilation (R) or by surgical iridectomy. Retacam images of patient 3 show corneal opacification
extending to visual axis with no iridocorneal adhesions. Small pigment tuft can be seen on endothelium behind
opacification (J, arrow) as an evidence of previous attachment.
Patient 1
(OS)
A
B
E
F
C
C
D
Patient 2
(OS)
G
Patient 3
H
I
K
L
J
Patient 4
Patient 5
O
P
M
N
Q
R
Severe Peters anomaly type I disease. Front (A, E, I, L), slit (B, F, J, M) and UBM (C,
D, G, H, K, N) images of patients 6-9 showing significant central opacification with
variable amount of posterior corneal thinning and iridocorneal adhesions. Patient 9(N) OCT
image shows irido-lenticular adhesion.
Patient 6
A
B
C
E
F
G
I
J
L
M
D
Patient 7
Patient 8
K
Patient 9
N
H
Peters’ anomaly type II. Front (A, E, I, L), slit (B, J, M), side(F, N) and UBM images (C, D, G, H, K, O) of
patients 10-13 showing variable amount of corneal opacification, posterior corneal thinning, iridocorneal and
keratolenticular adhesions. Patient 10 and 11 show keratolenticular apposition distinguished by hyperreflective
line on UBM (C, D, G, H) representing intact anterior lens capsule. Patient 12 shows breached anterior lens
capsule and patient 13 shows complete keratolenticular adhesion.
Patient 10
A
B
E
F
I
J
C
D
Patient 11
H
G
Patient 12
K
Patient 13
L
M
N
O
Treatment algorithm
CONCLUSION
 Peters anomaly presents with a variable phenotype ranging from minimal
peripheral corneal opacity not affecting vision to extensive iris and lens
adhesions with dense central corneal opacity detrimental to vision.
 This should be recognized by the pediatric ophthalmologist as management
is tailored to the patient according to disease severity.
 In addition, a high index of suspicion for systemic abnormalities should be
raised when Peters anomaly is diagnosed.