Korean J Ophthalmol 2016;30(2):127-133

http://dx.doi.org/10.3341/kjo.2016.30.2.127
pISSN: 1011-8942 eISSN: 2092-9382

Original Article

Clinical Characteristics of Juvenile-onset Open Angle Glaucoma

Youngkyo Kwun, Eun Jung Lee, Jong Chul Han, Changwon Kee

Department of Ophthalmology, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea

Purpose: To demonstrate the clinical characteristics of juvenile-onset open angle glaucoma (JOAG) and to eval-
uate the prognostic factors for visual field (VF) progression in eyes with JOAG.
Methods: The medical records of 125 eyes of 72 patients with JOAG were analyzed retrospectively. At least
four reliable VF tests were required to determine the VF progression, and the progression was defined using
the modified Anderson criteria. Comparisons in clinical manifestations among groups were performed using
independent t-test, and generalized estimating equations were also conducted.
Results: The mean follow-up duration was 94.4 ± 50.5 months. Patients with JOAG showed a male preponder-
ance (64%), myopia (-4.99 ± 4.01 diopters) and a severe elevation of intraocular pressure (35.6 ± 10.8 mmHg).
Forty-two JOAG patients (58%) had complained of symptoms associated with vision and pain; however, one-
third presented with no definite symptoms. Fifty-seven patients were diagnosed with JOAG in both eyes, and
they were significantly older (p = 0.039) and had a greater family history (p = 0.035) than patients with unilat-
eral JOAG. The progression group exhibited a significantly higher intraocular pressure at the last visit (p = 0.023)
than the non-progression group.
Conclusions: Because patients with considerable JOAG had no definite symptoms, periodic eye examinations
are needed. To prevent the VF’s progression, JOAG patients may require more careful management of intra-
ocular pressure.

Key Words: Family history, Juvenile-onset open angle glaucoma, Visual field progression

Glaucoma is a chronic, progressive optic neuropathy out gonioscopic abnormalities. The overall prevalence of
with a characteristic optic nerve head change and corre- POAG ranges from 1.0% to 3.9%, depending on the race,
sponding visual field (VF) defects. It is the leading cause age and definitions used [1-3].
of irreversible blindness worldwide. Primary open angle Juvenile-onset open angle glaucoma (JOAG) is an un-
glaucoma (POAG) is the most common type of glaucoma common subset of POAG characterized by an autosomal
and occurs in elderly individuals with an open angle with- dominant pattern of inheritance [4,5]. It generally affects
individuals during childhood or early adulthood but is dis-
tinct from congenital glaucoma that presents with bu-
Received: October 3, 2014 Accepted: July 15, 2015
phthalmos, megalocornea, Haab’s striae, and ocular or
Corresponding Author: Changwon Kee, MD, PhD. Department of Oph- other systemic developmental anomalies. A recent popula-
thalmology, Samsung Medical Center, Sungkyunkwan University School
of Medicine, #81 Ilwon-ro, Gangnam-gu, Seoul 06351, Korea. Tel: 82-2-
tion-based study reported that the incidence of JOAG was
3410-3548, Fax: 82-2-3410-0074, E-mail: ckee@skku.edu 0.38 per 100,000 residents between 4 and 20 years of age [6].

© 2016 The Korean Ophthalmological Society

This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses
/by-nc/3.0/) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.

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An epidemiological study from the Dallas Glaucoma Reg- Visual Field Analyzer (HFA 30-2; Carl Zeiss Meditec,
istry reported that JOAG comprised about 4% of the cases Dublin, CA, USA). A dilated stereoscopic examination of
of childhood glaucoma when JOAG was defined as an id- the fundus with optic disc and red-free fundus photogra-
iopathic glaucoma arising in children older than three phy for identifying a glaucomatous optic nerve head, reti-
years of age [7]. JOAG is associated with myopia and se- nal nerve fiber layer defects and retinal pathology, was re-
verely elevated intraocular pressure (IOP) with large fluc- viewed for all participants. The VF test, color optic disc
tuations [8,9]. photographs and red-free fundus photographs were ac-
The resulting visual impairment and blindness can sig- quired at an interval of one year. The evaluated medical
nificantly impair the patient’s quality of life and limit daily history included the patient’s family history of glaucoma,
living activities [10]. Patients with JOAG are diagnosed at sex, follow-up duration, numbers of medications used for
an early age and therefore have a longer life expectancy the management of IOP, steroid use, chief complaint at the
than the typical glaucoma patient. Because of the rarity of initial visit, and age at the diagnosis of JOAG. A positive
the disease, there are little data on its clinical characteris- family history of glaucoma was defined as the presence of
tics and prognosis. In this study, we demonstrated the clin- one or more relatives (first- or second-degree) of the patient
ical characteristics and evaluated the prognostic factors for who reportedly had been diagnosed with glaucoma by
the progression of VF defects in patients with JOAG. ophthalmologists. The JOAG patients were grouped ac-
cording to the laterality of the disease and the VF progres-
sion.
Materials and Methods Glaucomatous VF defects were defined as the presence
of a cluster of three or more contiguous non-edge points on
This retrospective study was approved by the institution- the pattern deviation probability plot with a probability
al review board of Samsung Medical Center and was car- less than 5%, with at least one of these having a probability
ried out in accordance with the tenets of the Declaration of less than 1%, which was confirmed on two consecutive
Helsinki. We reviewed the medical records of 125 eyes in tests. Unreliable test results were excluded if the fixation
72 consecutive patients (15 eyes of 15 unilateral JOAG pa- loss was more than 30%, or a false-positive or false-nega-
tients and 110 eyes of 57 bilateral JOAG patients) who had tive was greater than 33%. VFs were evaluated for progres-
been diagnosed with JOAG at Samsung Medical Center sion using a modification of the criteria suggested by An-
between 1996 and 2014. JOAG was also diagnosed when derson and Patella [11]. The first VF test was excluded to
patients met the following criteria: elevated IOP ≥24 minimize the impact of the learning effect. At least four
mmHg by Goldmann applanation tonometry at the initial reliable VF datasets with a mean deviation better than
hospital visit, open angle configuration on gonioscopy, -20.00 dB of the baseline VF test were required. Progres-
glaucomatous optic neuropathy (neural rim thinning, focal sion was defined when one of the following was present
notching or a vertical cup-to-disc ratio >0.6) and/or glau- compared to the baseline values: a reproducible reduction
comatous VF defects, and patients between the ages of 10 in the sensitivity of at least 10 dB in a cluster of ≥2 contig-
and 40 years. The results of the medical history and com- uous locations and/or a deterioration of at least 5 dB in a
prehensive ophthalmologic examination, including slit- cluster of ≥3 contiguous locations, at least one of which
lamp biomicroscopy, best-corrected visual acuity, refrac- had deteriorated by ≥10 dB on two consecutive VF tests.
tive error, and central corneal thickness, were recorded. The progression points were not the outermost points and
The IOP was measured on two separate occasions with a did not cross the nasal meridian. Out of 125 eyes of 72 pa-
Goldmann applanation tonometer under topical anesthesia, tients, 30 eyes had less than four reliable VF tests; 15 eyes
and the average value of the two was determined and used. had a mean deviation worse than -20.00 dB or threat to
The baseline IOP was checked at the initial hospital visit, fixation on the baseline VF test. The remaining 80 eyes
and the final IOP was calculated as the mean IOP mea- were included for the analysis of the VF progression.
sured during the last two hospital visits. An automated VF Exclusion criteria were as follows: (1) evidence of sec-
test was evaluated by the 30-2 program Swedish interac- ondary causes of elevated IOP; (2) a history of intraocular
tive threshold algorithm standard on the Humphrey 740 surgery, including laser treatment and refractive surgery;

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(3) pigmentation of the angle greater than grade 3 or pe- analyses. A p-value less than 0.05 was considered statisti-
ripheral anterior synechia; (4) conditions other than glau- cally significant.
coma affecting the VF; (5) presence of any other retinal or
neurological pathology; and (6) no light perception of visu-
al acuity. Results
Statistical analyses were performed using SAS ver. 9.4 (SAS
Institute, Cary, NC, USA) and R 3.0.3 (R Foundation for Statis- We enrolled 125 eyes of 72 patients with JOAG, of which
tical Computing, Vienna, Austria; http://www.R-project.org/). there were 46 males and 26 females. Four eyes presenting
We used the independent t-test and chi-square test to com- with no light perception were excluded from this study be-
pare the means of data within the JOAG subgroups. For a cause they are typically not treated when the patients do
comparison between bilateral and unilateral JOAG pa- not complain of pain. At the initial hospital visit, 15 pa-
tients, eyes diagnosed with JOAG were included in our tients (21%) were diagnosed with unilateral JOAG. During
statistical analyses. In bilateral JOAG patients, the eye pre- the follow-up, nine fellow normal eyes were diagnosed
senting with a higher IOP at the initial visit among both with JOAG, and three of nine eyes demonstrated a glauco-
eyes was used. All eyes were diagnosed with JOAG, and matous VF defect. Patient characteristics and comparisons
both eyes in the case of bilateral JOAG patients were in- between bilateral and unilateral JOAG patients are shown
cluded in the statistical analysis to compare the groups in Table 1. Among the 72 JOAG patients, the mean age at
when they were divided according to the VF progression. diagnosis was 26.8 ± 7.3 years old, and the mean follow-up
To identify the clinical parameters associated with VF pro- duration was 94.4 ± 50.5 months. Eighteen patients (28%)
gression, each variable was first tested in a univariable had a known family history of glaucoma, while 46 (72%)
model using logistic regression analysis. Those with a did not. Eight patients (11%) were not sure of their history
p-value less than 0.10 were then entered in a multivariable of glaucoma. The mean refractive error corrected for
model. The correlations of the outcomes of both eyes in spherical equivalence was -4.99 ± 4.01 diopters. Of these
one patient were adequately adjusted. To do this, a gener- patients, 57 (79%) had glaucoma in both eyes, and they
alized estimating equations method was adopted in our were defined as the bilateral group. The age at diagnosis

Table 1. Subject characteristics and comparisons between bilateral and unilateral juvenile-onset open angle glaucoma patients
Characteristics Total (n = 72) Unilateral JOAG (n = 15) Bilateral JOAG (n = 57) p-value*
Age at diagnosis (yr) 26.8 ± 7.3 23.3 ± 5.7 27.8 ± 7.4 0.039
Male 46 (64%) 8 (53%) 38 (67%) 0.376
Family history 18 (n = 64) 1 (n = 11) 17 (n = 53) 0.035
Refractive error (diopter) -4.99 ± 4.01 -4.34 ± 2.29 -5.13 ± 4.29 0.794
Central corneal thickness (µm) 536.7 ± 48.9 524.0 ± 35.5 539.6 ± 51.4 0.404
Vertical cup-to-disc ratio 0.8 ± 0.2 0.8 ± 0.2 0.8 ± 0.2 0.994
Baseline IOP (mmHg) 35.6 ± 10.8 39.3 ± 10.5 34.6 ± 10.8 0.148
Last IOP (mmHg) 16.4 ± 4.5 15.3 ± 5.7 16.6 ± 4.2 0.145
No. of surgical procedures 0.9 ± 1.0 0.9 ± 0.8 0.9 ± 1.0 0.509
No. of eye drops at the last visit 1.7 ± 1.5 1.0 ± 1.3 1.9 ± 1.5 0.040
Baseline MD (dB) -14.51 ± 11.47 -17.41 ± 12.89 -13.82 ± 11.12 0.387
MD at last visit (dB) -12.62 ± 10.17 -17.27 ± 11.53 -11.32 ± 9.49 0.103
Follow-up period (mon) 94.4 ± 50.5 97.0 ± 45.7 92.5 ± 51.6 0.841
Values are presented as mean ± SD unless otherwise indicated.
JOAG = juvenile-onset open angle glaucoma; IOP = intraocular pressure; MD = mean deviation of visual field test.
*
Independent t-test between the affected eyes of unilateral JOAG patients and eyes that showed higher intraocular pressure at the initial
visit in bilateral JOAG patients.

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was significantly older in the bilateral group (27.8 ± 7.4 Variables with p-values of less than 0.10 were included in
years) than in the unilateral group (23.3 ± 5.7 years, p = the multivariate analysis to assess their joint effects on the
0.039), and the bilateral group (32%) more commonly VF progression. Using multivariate analyses, the VF pro-
showed a family history of glaucoma than the unilateral gressions were associated with the final IOP (OR, 1.183; p
group (9%, p = 0.035). Other parameters were not signifi- = 0.008).
cantly different between the bilateral and unilateral
groups. Fifty-six eyes (44.8%) were successfully controlled
with medical treatment, and the mean IOP at the last visit Discussion
was 18.35 ± 3.50 mmHg with an average of 2.43 ± 1.13 eye
drops. Sixty-nine eyes (55.2%) underwent surgical treat- In this study, we demonstrated that JOAG patients had a
ment, and the mean IOP at their last visit was 14.17 ± 4.72 male preponderance, myopic refractive state and severe el-
mmHg with an average of 1.14 ± 1.50 eye drops. evation of IOP; these findings were similar to those of pre-
The chief complaints of patients with JOAG at their ini- vious reports [8,12-14]. Bilateral JOAG patients were older
tial hospital visit are shown in Table 2. Blurred vision was and made up a higher proportion of those with a family
the most common manifestation in 16 (22%), and 14 re- history of glaucoma than unilateral JOAG patients. It is
ported pain (19%). Twenty-one patients (29%) were diag- probable that unilateral JOAG patients were diagnosed
nosed with glaucoma by health promotion and pre-refrac- earlier than bilateral JOAG patients, because 64% of the
tive surgery examinations. Others included conjunctival normal fellow eyes of unilateral JOAG patients at the ini-
injection, tearing, irritation, and foreign body sensation. tial hospital visit were also diagnosed with JOAG during
Table 3 shows a comparison of the clinical characteris- the follow-up in this study. In cases of normal tension
tics between 23 progressors and 57 nonprogressors in 80 glaucoma, one-fourth of patients developed VF loss in the
eyes with JOAG. The progressor group (47%) represented fellow eyes that had an initially normal VF, and the esti-
a higher proportion of the family history than the nonpro- mate of the median time to VF loss onset was 95.1 months
gressor group (19%, p = 0.091), but the difference was not [15]. In this study, nine of 14 patients (64%) with unilateral
significant. The last IOP was significantly higher in the JOAG developed JOAG in their fellow eyes, and the esti-
progressor group (18.7 ± 0.9 mmHg) than in the nonpro- mate of the median time to diagnosis was 12.3 months.
gressor group (16.6 ± 0.6 mmHg, p = 0.023), despite the Because the patients with unilateral JOAG had higher
significantly higher number of IOP-lowering eye drops be- chance of developing JOAG in their fellow normal eyes,
ing used at the last visit in the progressor group (2.7 ± 0.3) more caution is needed during follow-up to identify these
vs. the nonprogressor group (1.7 ± 0.2, p = 0.003). patients so they can receive proper treatment.
The univariate logistic regression analyses are shown in Symptoms associated with visual acuity, including
Table 4. The last IOP showed significant associations with blurred vision and decreased visual acuity, were the major
the VF progression (odds ratio [OR], 1.122; p = 0.023). manifestation. However, one-third of the patients visited
the clinics without definite symptoms and was diagnosed
with JOAG by chance. Visual impairment and vision-relat-
Table 2. Presenting complaints of juvenile-onset open angle ed quality of life in working-age adults was related with
glaucoma patients at the initial hospital visit impaired vision as well as with adverse social outcomes
Presenting complaint No. (%) [10]. Because JOAG patients have a long life expectancy,
Blurred vision 16 (22) the periodic IOP measurements conducted during the
Pain 14 (19) school’s physical examinations are important despite their
Health promotion examinations 13 (18) rarity.
Decreased visual acuity 12 (17) Our study showed that VF progression was associated
Pre-refractive surgery examinations 8 (11) with a higher IOP at the last hospital visit. A family histo-
Others *
10 (14) ry of glaucoma was weakly associated with a higher pro-
*
Conjunctival injection, tearing, irritation, and foreign body sen- portion of VF progression despite there being no signifi-
sation. cant differences in the baseline and last IOP, number of

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Table 3. Comparisons between eyes with visual field progression and without progression
Characteristics Progressor (n = 23) Nonprogressor (n = 57) p-value*
Age at diagnosis (yr) 28.6 ± 1.5 28.5 ± 1.2 0.972
Male 17 (74%) 37 (65%) 0.457
Family history† 9 (47, n = 19) 8 (19, n = 42) 0.091
Refractive error (diopter) -5.38 ± 0.81 -5.02 ± 0.61 0.713
Central corneal thickness (µm) 543.5 ± 11.4 531.6 ± 10.7 0.428
Vertical cup-to-disc ratio 0.72 ± 0.04 0.71 ± 0.03 0.901
Baseline IOP (mmHg) 31.2 ± 2.0 29.6 ± 1.1 0.458
Last IOP (mmHg) 18.7 ± 0.9 16.6 ± 0.6 0.023
No. of surgical procedures 0.5 ± 0.2 0.6 ± 0.1 0.666
No. of eye drops at the last visit 2.7 ± 0.3 1.7 ± 0.2 0.003
Baseline MD (dB) -7.18 ± 0.96 -6.11 ± 0.86 0.401
MD at last visit (dB) -11.32 ± 1.60 -5.74 ± 0.80 0.002
No. of visual field tests 10.2 ± 5.4 8.1 ± 4.7 0.088
Follow-up period (mon) 98.0 ± 13.0 96.2 ± 8.5 0.903
Values are expressed as mean ± SD unless otherwise indicated.
IOP = intraocular pressure; MD = mean deviation of the visual field test.
*
Independent t-tests between the eyes with a progression of visual field defect and without progression, and generalized estimating equa-
tions were conducted; †The data of family history occurred in 61 of 80 eyes included in the analysis, of which there were 19 eyes in the
progressor group and 42 eyes in the nonprogressor group.

Table 4. Logistic regression analysis of the association between visual field progression and clinical factors
Univariate analysis Multivariate analysis*
OR (95% CI) p-value OR (95% CI) p-value
Age at diagnosis (yr) 1.002 (0.922-1.088) 0.972 - -
Male 1.532 (0.498-4.709) 0.457 - -
†
Family history 3.825 (0.930-15.738) 0.063 3.770 (0.883-16.098) 0.073
Refractive error (diopter) 0.975 (0.855-1.111) 0.701 - -
Central corneal thickness (µm) 1.005 (0.993-1.016) 0.434 - -
Baseline IOP (mmHg) 1.029 (0.959-1.103) 0.431 - -
Last IOP (mmHg) 1.122 (1.016-1.239) 0.023 1.183 (1.045-1.340) 0.008
Baseline MD (dB) 0.965 (0.885-1.052) 0.417 - -
In univariate and multivariate analyses, generalized estimating equations were conducted.
OR = odds ratio; CI = confidence interval; IOP = intraocular pressure; MD = mean deviation of visual field test.
*
All variables with p < 0.10 in the univariate model; †These data of family history occurred in 61 of 80 eyes included in the analysis, of
which there were 19 eyes in the progressor group and 42 eyes in the nonprogressor group.

surgical procedure and eye drops and the baseline VF de- pared to patients with sporadic disease. Previous studies
fect. In the case of POAG in older patients, an evi- have reported that the relation between a family history of
dence-based review showed that there was no significant glaucoma and the progression or severity of the VF defect
relation between the patient’s family history of glaucoma was controversial in POAG patients. However, there have
and VF progression [16]. In contrast, Wu et al. [17] ob- been no such reports in JOAG patients. Souzeau et al. [18]
served that patients with familial POAG had a greater dis- found that the prevalence of myocilin mutations in glauco-
ease severity and an earlier onset age at diagnosis com- ma cases with severe VF loss was significantly greater

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than in nonadvanced glaucoma patients. In addition, the ma in North China: the Beijing Eye Study. Am J Ophthal-
prevalence of a myocilin mutation of POAG patients mol 2010;150:917-24.
ranged from 1.4% to 4.3%, worldwide [19-21], while 12.5% 4. Johnson AT, Drack AV, Kwitek AE, et al. Clinical features
to 36% of cases of JOAG might have been linked to myoci- and linkage analysis of a family with autosomal dominant
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gression. of autosomal dominant juvenile glaucoma to 1q21-q31 in
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tors and selection bias. In the event of poorly managed pa- characteristics of childhood glaucoma: a population-based
tients, drop-out during follow-up may have occurred. study. Arch Ophthalmol 2010;128:478-82.
However, there was no significant difference in the clinical 7. Fung DS, Roensch MA, Kooner KS, et al. Epidemiology
backgrounds, including the age, sex, baseline IOP, duration and characteristics of childhood glaucoma: results from the
of follow-up, and the severity of VF defect at initial visit Dallas Glaucoma Registry. Clin Ophthalmol 2013;7:1739-
between the VF progression and the nonprogression 46.
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difficult to detect differences among groups. 9. Park SC, Kee C. Large diurnal variation of intraocular
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Conflict of Interest Ophthalmol 1960;64:882-91.
14. Gupta V, Ov M, Rao A, et al. Long-term structural and
No potential conflict of interest relevant to this article functional outcomes of therapy in juvenile-onset primary
was reported. open-angle glaucoma: a five-year follow-up. Ophthalmo-
logica 2012;228:19-25.
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