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ULTRA-WIDE FIELD FUNDUS
AUTOFLUORESCENCE IMAGING OF EYES
WITH STICKLER SYNDROME
KAZUSHI FUJIMOTO, MD,* TATSUO NAGATA, MD, PHD,* ITSUKA MATSUSHITA, MD, PHD,*
KAZUMA OKU, MD,* MAMIKA IMAGAWA, MD,* KAZUKI KUNIYOSHI, MD, PHD,†
TAKAAKI HAYASHI, MD, PHD,‡KENICHI KIMOTO, MD, PHD,§ MASAHITO OHJI, MD, PHD,¶
SHUNJI KUSAKA, MD, PHD,†HIROYUKI KONDO, MD, PHD*
Purpose: To determine the characteristics of fundus autofluorescence (FAF) images and
visual functions in eyes with Stickler syndrome using ultra-widefield FAF images.
Methods: Forty-six eyes of 26 patients with mutations in the COL2A1 gene underwent
ultra-widefield FAF imaging. The eyes were categorized into three types; no signs of abnor-
mal AF, predominantly hyperfluorescent AF (hyper-AF), and predominantly hypofluorescent
AF (hypo-AF). Goldmann perimetry was performed on 34 eyes, and line-scan images of the
abnormal AF lesions were obtained by swept-source optical coherence tomography in 4
eyes.
Results: Abnormal AF lesions were found in 37 eyes of 21 (80.7%) of the 26 patients.
Hyper-AF was found in 15 eyes and hypo-AF was found in 22 eyes. The FAF changes
corresponded with the funduscopically observed radial paravascular retinal degeneration.
The average age at the examination was significantly younger in patients who had eyes with
hyper-AF or no abnormal AF than in those with hypo-AF (12.8 vs. 28.4 years; P=0.009).
Abnormal AF-associated visual field defects were found in 5/10 (50%) eyes with hyper-AF
and 17/18 (94%) eyes with hypo-AF. Hyper-AF changes tended to appear before retinal
changes were detectable by fluorescein angiography. An absence of the ellipsoid zone
and the outer nuclear layer and a thinning of the overall retinal thickness were found corre-
sponding to the hypo-AF lesions in the swept source optical coherence tomography images.
Conclusion: Abnormal FAF is characteristic of eyes with Stickler syndrome. Age-related
alterations of the FAF was associated with visual field defects and disruption of the
photoreceptors and retinal pigment epithelial cells.
RETINA 41:638–645, 2021
Stickler syndrome is an inherited systemic disorder
that affects the eyes, ears, cartilage, and articular
tissues.
1
The disorder results from an insufficient
expression of collagen due to mutations in the procol-
lagen genes including the COL2A1,COL11A1,
COL11A2, and COL9A1 genes. About 80% to 90%
of the cases are caused by mutations in the COL2A1
gene.
2–4
The ocular features of Stickler syndrome are
characterized by high myopia, retinal detachments,
vitreous degeneration, and presenile cataracts.
1–4
Stickler syndrome is the major cause of pediatric
retinal detachments and blindness,
5–7
and a correct
diagnosis in early childhood is critical. The important
diagnostic clues of Stickler syndrome are the character-
istic vitreous degeneration that can be seen by a slit-
lamp microscopy, and the funduscopic alterations of the
pigmentation along the retinal vessels, the so-called
radial paravascular retinal degeneration (RPRD).
3,6,7
However, the characteristics of the RPRDs have been
investigated by only their funduscopic appearance.
Fundus autofluorescence (FAF) imaging is a non-
invasive method that requires only a short acquisition
time to obtain the AF images of the fundus. The AF
changes result from an accumulation or the loss of
products of retinol metabolism including pyridinium
bis-retinoid (A2E) in the retinal pigment epithelial
cells suggestive of the functional damages of the outer
retina and choroid.
8–10
An ultra-widefield (UW) fundus camera was
recently developed that allowed clinicians to examine
a greater extent of the posterior pole of the eye. The
UW-FAF images have shown changes of the outer
638
retina and choroid in several retinal disorders includ-
ing retinitis pigmentosa, multiple evanescent white dot
syndrome, and Vokt–Koyanagi–Harada disease.
11–14
To the best of our knowledge, the FAF images in eyes
with Stickler syndrome have not been examined.
Thus, the purpose of this study was to determine the
characteristics of FAF images and associated visual
function in eyes with Stickler syndrome. To accom-
plish this, UW-FAF images of 26 patients with
mutations in the COL2A1 gene were examined.
Methods
This was a retrospective multicenter study of patients
from 22 families with Stickler syndrome who had
undergone UW-FAF imaging. The procedures used
conformed to the tenets of the Declaration of Helsinki,
and the study was approved by the Ethics Committee of
the University of Occupational and Environmental
Health Japan (H30-096), and Jikei University (24-231
6,997). A signed informed consent was obtained from all
patients or parents to perform the examinations and
present the findings in medical publications.
A diagnosis of Stickler syndrome was made for 25
families based on the criteria by Richard et al
3
between
Dec 2009 and Nov 2017. Genetic examinations were
performed on all families, and 22 families (88%) were
confirmed to have mutations in the COL2A1 gene. All
mutations were localized except for exon 2. The clinical
findings and mutations in the COL2A1 gene of 21 of the
patients have been reported in detail.
2,15–17
The remain-
ing five patients were newly studied, and the associated
mutations in the COL2A1 gene were c.3624del (pre-
dicted to p.Gly1209Valfs*18, NM_001844.4) for
Patient 1, c.3188_3211delinsGT (p.Ala1063Glyfs*60)
for Patient 6, c.2353C.T (p.Arg785*) for Patient 7,
and c.1957C.T (p.Arg653*) for Patient 2. Patient 25
was a family member of Patient 24.
All patients underwent an ophthalmologic examina-
tion that included measurements of the refractive error,
best-corrected visual acuity, perimetry by a Goldmann
perimeter (Haag-Streit, Bern, Switzerland), slit-lamp
examination, fundus examination, and b-mode scan of
swept-source optical coherence tomography (SS-OCT;
DRI OCT Triton, Topcon, Tokyo, Japan).
Ultra-widefield fundus photographs, fluorescein
angiograms, and FAF images were obtained by the
Optos 200Tx (Optos PLC; Dunfermline, Scotland,
United Kingdom). Eyes were excluded if the quality of
the FAF images was poor or if there was extensive
retinal damage including phthisis with or without
retinal detachments. In the end, 46 eyes of 26 patients
(20 families) were studied, and an image of the central
position of the FAF was analyzed. Abnormal AF
patterns were found as hyperfluorescent AF or hypo-
fluorescent AF lesions. The hypofluorescent AF
lesions were surrounded by hyperfluorescent AF
changes (Figure 1). These two AF patterns were often
observed in the same eye, thus the eyes were catego-
rized into three types; no signs of abnormal AF, pre-
dominantly hyperfluorescent AF, and predominantly
hypofluorescent AF (Figure 1) by the classifications
of the three retina specialists (K.F., T.N., H.K.).
Statistical Analyses
Statistical analyses were performed with the JMP
software (version 5.1; SAS Institute Inc, Cary, NC). For
the demographic analysis, we divided the patients into
two groups based on the FAF appearance: Group 1,
both eyes had predominantly hyperfluorescent or no
FAF changes; and Group 2, both eyes had predomi-
nantly hypofluorescent FAF. One patient (Patient 12)
had predominantly hyperfluorescent AF in the left eye
and predominantly hypofluorescent AF in the right eye,
and was excluded. The right eye was used if both eyes
were available. The characteristics of the two groups
were compared by one-way analysis of variance. The
statistical significance was set at P.0.05.
Results
Of the 26 patients, 13 were female and 13 were male
patients. The average age at the time of examination was
21.3 years with a range from 4 to 49 years. For 46 eyes,
the refractive error (spherical equivalent) ranged from
From the *Department of Ophthalmology, University of Occupa-
tional and Environmental Health, Kitakyushu, Japan; †Department
of Ophthalmology, Kindai University Faculty of Medicine, Osaka-
sayama, Japan; ‡Department of Ophthalmology, The Jikei Univer-
sity School of Medicine, Tokyo, Japan; §Department of
Ophthalmology, Oita University, Oita, Japan; and ¶Department of
Ophthalmology, Shiga University of Medical Science, Otsu, Japan.
Supported by Grants-in-Aid for Scientific Research, grant num-
bers 17K11441, 2017-2019 (H. Kondo). None of the authors has
any financial/conflicting interests to disclose. The authors thank
Professor Duco Hamasaki, Professor Emeritus, Bascom Palmer
Eye Institute, University of Miami, Miami, Florida, for his critical
comments and valuable assistance.
Supplemental digital content is available for this article. Direct
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This is an open-access article distributed under the terms of the
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License 4.0 (CCBY-NC-ND), where it is permissible to download
and share the work provided it is properly cited. The work cannot
be changed in any way or used commercially without permission
from the journal.
Reprint requests: Hiroyuki Kondo, MD, PhD, Department of
Ophthalmology, University of Occupational and Environmental
Health, 1-1, Iseigaoka, Yahatanishiku, Kitakyushu 807-8555,
Japan; e-mail: kondohi@med.uoeh-u.ac.jp
AUTOFLUORESCENCE IN STICKLER SYNDROME FUJIMOTO ET AL 639
23.5 D to 218.0 D with an average of 29.3 D. Four
eyes of four patients underwent pars plana vitrectomy
with or without lens extraction, and five eyes of three
patients underwent cataract extraction.
Abnormal AF lesions were found in 37 eyes of 21
patients (80.8%) of the 26 patients (Table 1). Predom-
inantly hyperfluorescent AF was found in 15 eyes and
predominantly hypofluorescent AF in 22 eyes. No sign
of abnormal AF was found in nine eyes. The abnormal
AF lesions were found along the retinal vessels corre-
sponding to the funduscopic appearance of the so-
called RPRD by the ultra-widefield color fundus pho-
tographs (Figure 1). These AF lesions were occasion-
ally found to deviate from the retinal vessels and run
circumferentially to the temporal equator and resem-
bled peripheral lattice degeneration. The hyperfluores-
cent AF lesions of smaller size did not correspond to
any changes in the color fundus photographs. Excep-
tional patterns of abnormal AF lesions were found
including hypofluorescent AF circumferential to the
nasal to temporal equator in Patient 4, and hyperfluor-
escent AF spots in the macula in Patients 4 and 5 (Table
1 and see Supplemental Figure 1, Supplemental Digi-
tal Content 1, http://links.lww.com/IAE/B260).
Thirteen patients were placed in Group 1 and 12
patients in Group 2. The average refractive errors and
average best-corrected visual acuities were not signif-
icantly different between patients in Groups 1 and 2;
210.1 D versus 29.6 D, (P= 0.77) and 0.15 loga-
rithm of the minimum angle of resolution (logMAR)
units versus 0.24 logMAR units, (P= 0.41). However,
the average age at the time of the examination was
significantly younger in the patients in Group 1 than
in Group 2 (12.8 vs. 28.4 years; P= 0.009).
Fig. 1. Ultra-widefield FAF
(UW-FAF) images and corre-
sponding color fundus and fluo-
rescein angiographic images in
eyes with stickler syndrome. The
images in the left column are
from the left eye of a 13-year-old
boy (patient 14), and the images
in the right column are from the
left eye of a 49-year-old man
(patient 26). Top: FAF images
representing predominantly hy-
perfluorescent AF pattern (left)
and predominantly hypofluor-
escent AF pattern (right).
Abnormal AF lesions are cate-
gorized into hyperfluorescent AF
(white arrows) or hypofluor-
escent AF lesions (white arrow-
heads). Photocoagulation scars
can be seen as hypofluorescent
AF spots (back arrows) on the
posterior margin of the stickler
syndrome-associated AF lesion.
Middle: Color fundus photo-
graphs showing varying degree
of pigmentary changes along the
retinal vessels, the so-called
radial paravascular retinal
degeneration. The changes cor-
respond to the hyper- or hypo-
fluorescent AF changes in the
FAF images are shown by
identical arrows or arrowheads.
Bottom: Fluorescein angio-
graphic images showing window
defects corresponding to the
hypofluorescent AF lesions in
the FAF images shown by the
arrowheads. Note that the
abnormalities are not shown
corresponding to hyper-
fluorescent AF lesions in the
FAF images.
640 RETINA, THE JOURNAL OF RETINAL AND VITREOUS DISEASES 2021 VOLUME 41 NUMBER 3
Table 1. Summary of Fundus Autofluorescent Features and Visual Field Defects in Patients With Stickler Syndrome
Patient
No. Family Kinship Sex
Age at
Examination
(yo)
R/
L
Refraction
(Diopters) BCVA
Predominant
FAF Status
Visual Field Defect at
Maximum Level of
Isopter: Associated
Findings* Remarks
Patient No of Early
Report (Reference)
1 1 Proband F 5 R 25 20/25 None None Not listed
L25 20/25 None None
2 2 Proband F 5 R 214.5 20/66 None NA Not listed
L213.0 20/40 Hyperfluorescent NA
3 3 Proband M 7 R 210 20/16 None NA 22 (15)
L213 20/33 None NA
4 3 Ant F 25 R 27.25†20/
66†
Hypofluorescent V4: O/O/O/U R) Cat (27 yo), L) Cat
(28 yo), FAF:B)
Macular
hyperfluorescent
AF spot, B)
circumferential
hypoflurecent AF to
the equator
24 (15)
L214.5†20/
28†
Hypofluorescent V4: O
5 3 Mother F 29 L 215.87 20/25 None V4: Av Cat (28 yo), FAF:
Macular
hyperfluorescent
spot, FA: temporal
avascular
23 (15)
6 4 Proband F 9 R 212 20/66 Hyperfluorescent None Not listed
L212 20/40 Hyperfluorescent None
7 5 Proband M 10 L 26.75 20/25 None I4c: U 23 (2)
8 6 Proband M 10 R 214 20/33 Hyperfluorescent NA 13 (15)
L212.75 20/
200
Hyperfluorescent NA
9 7 Proband M 10 L 214 20/22 None V4: Pc Vit (9 yo) 1 (15)
10 7 Mother F 35 R 24.5†20/
20†
Hypofluorescent V4: R/Pc L) Vit (35 yo) 2 (15)
L25.5†20/
20†
Hypofluorescent V4: O/Pc
11 7 Sister F 4 R 29 20/50 Hyperfluorescent NA 3 (15)
L29 20/20 Hyperfluorescent NA
12 8 Proband F 12 R 27.75 20/28 Hypofluorescent V4: R/O/O 9 (15)
L27.75 20/40 Hyperfluorescent V4: R/R
13 8 Mother F 35 R 26.25 20/20 Hyperfluorescent None 11 (15)
L23.75 20/40 Hyperfluorescent I4e: R
14 9 Proband M 13 R 25.25 20/20 Hyperfluorescent I4e: R/O 27 (2)
L24.75 20/16 Hyperfluorescent I4e: R/R
15 10 Proband M 14 R 27.5 20/20 Hyperfluorescent V4: U L) Vit (10 yo) 8 (15)
L26.25†20/16 None V4: Pc
(continued on next page)
AUTOFLUORESCENCE IN STICKLER SYNDROME FUJIMOTO ET AL 641
Table 1. (Continued)
Patient
No. Family Kinship Sex
Age at
Examination
(yo)
R/
L
Refraction
(Diopters) BCVA
Predominant
FAF Status
Visual Field Defect at
Maximum Level of
Isopter: Associated
Findings* Remarks
Patient No of Early
Report (Reference)
16 11 Proband M 15 R 211 20/22 Hyperfluorescent None 21 (15)
L213.25 20/22 Hyperfluorescent V4: R
17 12 Proband M 15 R 28 20/16 Hypofluorescent V4: O/U B) Cryo 5 (15)
L27 20/22 Hypofluorescent V4: O/U
18 13 Proband M 17 R 214 20/33 Hypofluorescent NA R) ENC/Vit/Cat (17
yo), L) ENC (14 yo)
4 (15)
L210 20/16 Hypofluorescent NA
19 14 Proband M 18 R 23.5 20/66 Hypofluorescent V4: R/O R) Vit (14 yo) 6 (15)
L25.25 20/20 Hypofluorescent I4e: O
20 15 Proband M 27 R 28 20/16 Hypofluorescent V4: O 12 (15)
21 16 Proband F 30 R 29 20/22 Hypofluorescent V4: O/O/O/O/O/U Not listed
L210 20/20 Hypofluorescent V4: O/O/O/O/U/U
22 17 Proband M 36 L 218 20/16 Hypofluorescent V4: O 6 (15)
23 18 Proband F 37 R 211 20/
133
Hypofluorescent NA 19 (2)
L212.25 20/40 Hypofluorescent NA
24 19 Proband F 39 R 214†20/
66†
Hypofluorescent V4: O/O/O/O/O/O/O B) Cat (40 yo) 15 (15)
L210†20/
33†
Hypofluorescent V4: O/O/O/O/O/O/O
25 19 Daughter F 13 R 28 20/66 Hypofluorescent V4: O/O/O/O/O/Pc Not listed
L212 20/20 Hypofluorescent V4: R/U
26 20 Father M 49 L 210.25 20/22 Hypofluorescent V4: Pc 20 (15)
*Note that “V4: O/O/O/U”indicates four visual field defects found at an isopter level of V4 consisting of three hypofluorescent AF lesions (O) and one lesion due to undetermined cause
(U).
†Status before surgery.
Av, avascularization; B, both eyes; BCVA, best-corrected visual acuity; Cat, cataract surgery; Cryo, cryotherapy; ENC, encircling; NA, not analyzed; O, hypofluorescent; Pc,
photocoagulation; R, hyperfluorescent; U, undetermined; Vit, vitrectomy, yo, year-old.
642 RETINA, THE JOURNAL OF RETINAL AND VITREOUS DISEASES 2021 VOLUME 41 NUMBER 3
Goldmann perimetry was performed on 34 eyes, and
visual field defects were detected in 28 eyes (82%). At
least one visual field defect was associated with the
abnormal AF changes in 24 of the 28 eyes; however,
the visual field defects were not associated with the
abnormal AF in 4 eyes and were probably attributable to
retinal photocoagulation and retinal avascular changes in
the periphery (Table 1 and Figure 2). Thus, abnormal AF-
associated with visual field defects were found in 5/10
(50%) eyes with predominantly hyperfluorescent AF and
17/18 (94%) eyes with predominantly hypofluorescent AF.
Fluorescein angiography was performed on 14 eyes of
8 patients. Of these, eight eyes had a predominantly
hypofluorescent FAF pattern and four eyes had a pre-
dominantly hyperfluorescent FAF pattern (two eyes had
normal AF). In eight eyes with a predominantly hypo-
fluorescent FAF pattern, the window defects corre-
sponded with the hypofluorescent AF spots (Figure 1
right). However, in four eyes with predominantly hyper-
fluorescent FAF pattern, the window defects were limited
to the part of the hypofluorescent AF areas and no angio-
graphic changes were detected corresponding to the hy-
perfluorescent AF areas (Figure 1 left and see
Supplemental Figure 2, Supplemental Digital Content
1, http://links.lww.com/IAE/B260).
In four eyes, line-scan images of the RPRD lesions
were obtained by SS-OCT. An absence of the ellipsoid
zone and the outer nuclear layer were found, and the
sites of these lesions corresponded with the hypofluor-
escent AF lesions (Figure 3). The inner retinal layers
were also thinner to varying degrees over the disrupted
outer retinal layers resulting in a severe reduction of
the total retinal thickness.
Discussion
Our results showed that abnormal AF was present in
81% of eyes with Stickler syndrome. Younger patients
tended to show no abnormal AF or predominantly the
hyperfluorescent AF type, and the older patients had
hypofluorescent AF surrounding the hyperfluorescent
AF. It is possible that the abnormal AF patterns
transition from hyperfluorescent to hypofluorescent
AF during the course of the disease process. Typical
abnormal AF changes were consistent with the fundu-
scopic RPRD appearance and window defects by
fluorescein angiography. Eyes with predominantly
hypofluorescent AF were more likely to be associated
with visual field defects. The presence or absence of
visual field defect was not correlated with degree of
myopia.
In our earlier electroretinographic (ERG) studies,
eyes with Stickler syndrome were found to have
reduced ERGs which worsened with increasing age
progressing to a cone dominant impairment.
17
Although this tendency was correlated with age, the
reduced ERG amplitudes under scotopic condition was
not significantly correlated with the degree of myopia.
From this and the results of our earlier studies, the
retinal degenerative changes seem to be age-
dependent. However, the extent of the RPRD was
not directly correlated with the ERG changes.
17
The RPRDs have been believed to be one of the
characteristic findings in eyes with Stickler syn-
drome.
6,7
Hagler et al
6
analyzed 33 patients with
Stickler syndrome and reported that RPRDs were de-
tected in all eyes during a long-term follow-up study.
Our cross-sectional study showed that nearly 50% of
the Stickler patients (Group 1) had limited or no signs
of RPRD. Although the RPRD is an essential sign in
eyes with Stickler syndrome, it is worth noting that
RPRD is not a requisite for the diagnosis. Ultra-
widefield FAF is useful because all funduscopic
RPRD changes can be detected more clearly by this
noninvasive method. Moreover, UW-FAF is useful for
an earlier diagnosis of Stickler syndrome because UW-
FAF can show small hyperfluorescent AF lesions
before obvious RPRD lesions appear in the ophthal-
moscopic images. Hyperfluorescent AF lesions are
Fig. 2. Ultra-widefield FAF
(UW-FAF) image and visual
field defects detected by Gold-
mann perimetry of the right eye
of a 39-year-old woman with
stickler syndrome (patient 24).
Left: UW-FAF image showing
a predominantly hypofluorescent
AF pattern. Right: Goldmann
perimetry showing visual field
defects that correspond to hy-
pofluorescent AF lesions (num-
bers one through 6).
AUTOFLUORESCENCE IN STICKLER SYNDROME FUJIMOTO ET AL 643
likely to appear before the corresponding retinal
changes are detectable by fluorescein angiography.
The RPRD changes possibly originate from the
retinal vessels which are located in the inner retinal
layers. Our earlier study showed that the b-wave/a-
wave amplitude ratio of the dark-adapted ERGs was
significantly smaller, and thus the inner retinal layers
including the bipolar cells are more severely affected
than the photoreceptors.
17
Therefore, we assume that
damages of the neurons in the inner retinal layers pre-
cede those of the photoreceptors and the retinal pig-
ment epithelial cells. Nevertheless, a breakdown of the
inner blood–retinal barrier along the RPRD lesions
was not evident by fluorescein angiography.
The SS-OCT images of eyes with Stickler syndrome
showed a disruption of the photoreceptors and retinal
pigment epithelial layers that resulted in a thinning of
the retina at the areas of the RPRD. The degenerative
areas can be superimposed on the hypofluorescent AF
lesions associated with visual field defects. The
combination of the anatomical and functional changes
detected by an OCT, FAF, and perimetry, are
consistent with other retinal dystrophies including
retinitis pigmentosa, macular dystrophy, and pig-
mented paravenous retinochoroidal atrophy.
18–20
However, in contrast with these retinal dystrophies
in which the degenerative changes are restricted to
the outer retina, eyes with Stickler syndrome had a ret-
inal thinning involving the inner retina.
17
No mecha-
nism has been suggested to explain how the retinal
degeneration progresses in Stickler syndrome. A
strong adhesion is inherent between the vitreous and
retinal vessels,
21
and a pathologic vitreoretinal inter-
face is known to exert traction on the retina in eyes
with Stickler syndrome.
22
One possibility is that
trauma due to the traction on the retinal vessels leads
to secondary retinal degeneration. Further studies are
needed to understand the mechanism for the retinal
degeneration in Stickler syndrome.
This study has several limitations. First, this was
a retrospective, cross-sectional study. Thus, we were not
able to conclude whether the abnormal AF lesions were
progressive. Second, we used UW-FAF images at the
central position. Using additional images away from the
center can detect further retinal changes in the periphery.
Third, the number of the patients was limited and only
Fig. 3. Swept-source optical
coherence tomographic (SS-
OCT) and ultra-widefield FAF
(UW-FAF) images showing
changes in the left eye of an 18-
year-old young man (patient 19).
Top left: Fundus photograph
nasal to the posterior pole
showing mild pigmentary
changes along with an upper
nasal vessel. Top right: Part of
UW-FAF image superimposed
on the fundus photograph
showing hypofluorescent AF.
Bottom: B-scan SS-OCT image
along the lesion of the hypo-
fluorescent AF designated by the
green vertical line of the fundus
photograph. This photograph
demonstrates the regional
absence of the ellipsoid zone and
the outer nuclear layer and
a thinning of the inner retinal
layers. The corresponding extent
is shown by the lines between
the arrows in the three images.
644 RETINA, THE JOURNAL OF RETINAL AND VITREOUS DISEASES 2021 VOLUME 41 NUMBER 3
patients with mutations in the COL2A1 gene were exam-
ined. Moreover, we cannot assess the ocular-only type of
Stickler syndrome that is caused by mutations of exon
two of the COL2A1 gene.
23
Fourth, Goldmann perimetry
measurements may be influenced by the proficiency of
examiners. Nonetheless, we believe the clinical signifi-
cance of this study were not altered by these limitations.
Key words: Stickler syndrome, ultra-wide field,
fundus autofluorescence, retinal degeneration, retinal
dystrophy.
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