intervention.1UBM has been used for diagnosis, when
gonioscopy is not possible due to a shallow anterior
chamber or hazy media.4Injection of viscoelastic material
into the anterior chamber may facilitate gonioscopic
visualization when other methods fail.5Gonioscopy and
UBM may be difficult to perform in younger children.
SL-OCT is atraumatic, rapid, and slit-lamp-adapted.
Although the SL-OCT provides images with a higher
axial resolution, a major limitation compared to the UBM
is its inability to visualize structures posterior to the iris.
In our patient, the cleft was well defined and easily
located by SL-OCT, producing images similar in quality
to those produced by UBM, without risk of further ocular
injury or patient discomfort. Testing can be repeated
frequently, with minimal difficulty, to follow the ocular
response to intervention. Lastly, given that SL-OCT is
easily performed in the upright position (compared with
majority of UBM devices performed in the supine position),
the findings may more likely reflect gonioscopic and
slit-lamp biomicroscopic clinical findings.
1 Ormerod LD, Baerveldt G, Green RL. Cyclodialysis clefts:
natural history, assessment and management. In: Weinstein
GW (ed). Open Angle Glaucoma. Churchill Linvingstone:
New York, 1986, pp 201–225.
2 Leung CK, Chan WM, Ko CY, Chui SI, Woo J, Tsang MK et al.
Visualization of anterior chamber angle dynamics using
optical coherence tomography. Ophthalmology 2005; 112:
3Memarzadeh F, Li Y, Chopra V, Varma R, Francis BA,
Huang D. Anterior segment optical coherence tomography
for imaging the anterior chamber after laser peripheral
iridotomy. Am J Ophthalmol 2007; 143: 877–879.
4Gentile RC, Pavlin CJ, Liebmann JM. Diagnosis of traumatic
cyclodialysis by ultrasound biomicroscopy. Ophthalmic Surg
Lasers 1996; 27: 97–105.
5Ormerod LD, Baerveldt G, Sunalp MA, Riekhof FT.
Management of the hypotonous cyclodialysis cleft.
Ophthalmology 1991; 98: 1384–1393.
TS Prata1, P-M Palmiero1, CGV De Moraes1, C Tello1,2,
Z Sbeity1,2, J Liebmann1,3,4and R Ritch,1,2
1Einhorn Clinical Research Center, New York Eye
and Ear Infirmary, New York, NY, USA
2Department of Ophthalmology, New York
Medical College, Valhalla, NY, USA
3Department of Ophthalmology, Manhattan Eye,
Ear and Throat Hospital, New York, USA
4Department of Ophthalmology, NY New York
University School of Medicine, New York, NY, USA
This study was supported in part by the
Educational Foundation of America, Westport, CT,
Financial interest: None
Eye (2009) 23, 1618–1619; doi:10.1038/eye.2008.277;
published online 12 September 2008
Novel mutation in PAX3 gene in Waardenburg
syndrome accompanied by unilateral macular
Waardenburg syndrome (WS) is a congenital pigmentary
anomaly that affects the eye, hair, and skin. It is
accompanied by facial abnormalities and deafness.1
WS is clinically and genetically heterogeneous, and
WS type 1 (WS1) is characterized by dystopia
canthorum. WS1 results from mutations in the PAX3
gene.2We report a patient with WS1 who presented with
unilateral vision decrease and a novel mutation in the
showing choroidal effusion with no ciliary body detachment at the same position (arrow). AC¼anterior chamber; CB¼ciliary body;
(a) UBM image showing choroidal effusion with no ciliary body detachment at 6-o’clock position (arrow). (b) SL-OCTimage
A 54-year-old woman with heterochromia of the right iris
noticed a decrease in her vision. She had dystopia
canthorum, hypopigmentation of her eyelashes and skin,
and unilateral hearing impairment. A diagnosis of WS1
was made. Her best corrected visual acuities were 0.09
OD and 1.5 OS with refractive errors of ?16.0 diopters
(D) OD and ?5.5 D OS. Intraocular pressure was
11mmHg OD and 12mmHg OS. The right fundus
appeared albinotic over the entire retina accompanied by
chorioretinal atrophy in the posterior pole probably due
to the high myopia (Figure 1). A B-scan ultrasonogram
showed an elongated axial length of 28.1mm in the right
eye, and a normal appearing left eye with an axial length
of 25.0mm. Posterior staphyloma-like changes were not
detected in both eyes. Optical coherence tomography
revealed a thickened pigment epithelial layer under the
macula, suggestive of a myopic macular scar from a
possible choroidal neovascularization (Figure 2).
After an informed consent was obtained, a search for
mutations in the PAX3 gene was made from the DNA
extracted from the peripheral blood. A novel A-C
transversion was identified in exon 5 resulting in a
tyrosine-serine change at codon 243 (Figure 3). This
codon is located in a highly conserved homeodomain.
The change was not observed in 191 healthy controls,
and this codon is conserved in different species.
Most of the symptoms and signs of our patient
were consistent with those reported for patients
with WS1. However, even with more than 50 mutations
in the PAX3 gene reported, none of the patients
has been reported to have a myopic macular
degeneration as seen in our patient. In WS, the refractive
errors vary considerably from hyperopia to myopia.3
The PAX3 gene is a transcription factor that is
expressed during embryonic development and is
critically involved in the development of melanocytes.4
The similarity in the phenotypic expression of
different point mutations in the PAX3 gene indicates that
these mutations cause a complete loss of function.
However, a recent study suggested that different point
mutations tend to exhibit independent properties of
The novel mutation found in this study is predicted to
alter highly conserved tyrosine at codon 243, which plays
a role in homeodomain DNA binding through a
phosphate contact.5Although further studies are
required, it is possible that, owing to the different
property of deficient melanocytes, this patient was
vulnerable to choroidal neovascularization in association
with the high myopia. In any case, ophthalmologists
should be aware that patients with WS1 may also have
myopic macular degeneration.
shows a thickened retinal pigment epithelial layer under the macula. (b) Optical coherence tomographic image of the left eye showing
Optical coherence tomographic images of the right and left eye. (a) Optical coherence tomographic image of the right eye
appearance and a chorioretinal atrophy in the posterior pole due to high myopia. (b) The left eye shows a conus temporal to the disc
with normal appearing macula.
Fundus photographs of a patient with Waardenburg syndrome. (a) Photograph of the right eye showing albinotic
References Download full-text
1Waardenburg PJ. A new syndrome combining
developmental anomalies of the eyelids, eyebrows and nose
root with pigmentary defects of the iris and head hair and
with congenital deafness. Am J Hum Genet 1951; 3: 195–253.
2 Tassabehji M, Read AP, Newton VE, Harris R, alling R, Gruss
P et al. Waardenburg’s syndrome patients have mutations
in the human homologue of the Pax-3 paired box gene.
Nature 1992; 355: 635–636.
3 Ohno N, Kiyosawa M, Mori H, Wang WF, Takase H, Mochizuki
M. Clinical findings in Japanese patients with Waardenburg
syndrome type 2. Jpn J Ophthalmol 2003; 47: 77–84.
4 Watanabe A, Takeda K, Ploplis B, Tachibana M. Epistatic
relationship between Waardenburg syndrome genes
MITF and PAX3. Nat Genet 1998; 18: 283–286.
5 Fortin AS, Underhill DA, Gris P. Reciprocal effect of
Waardenburg syndrome mutations on DNA binding by the
Pax-3 paired domain and homeodomain. Hum Mol Genet
1997; 6: 1781–1790.
M Kozawa1, H Kondo1, T Tahira2, K Hayashi2and E Uchio1
1Department of Ophthalmology, Fukuoka
University School of Medicine, Fukuoka, Japan
2Division of Genome Analysis, Research Center for
Genetic Information, Medical Institute of
Bioregulation, Kyushu University, Fukuoka, Japan
The authors have no proprietary interests. This
study was supported by Grants-in-Aid 15591883
from Scientific Research, Japan
Eye (2009) 23, 1619–1621; doi:10.1038/eye.2008.256;
published online 15 August 2008
Haemorrhagic pituitary tumour presenting with
unilateral paracentral visual disturbance
A 49-year-old postmenopausal woman presented with a
2-month history of ‘smeary and patchy’ vision in her left
eye. Visual acuities were 6/6 bilaterally; Ishihara testing
was normal (13/13) on the right but slightly impaired
(12/13) on the left. Pupillary reflexes were normal. Slit
lamp biomicroscopy, including dilated fundoscopy, was
normal. On Amsler grid testing, she described patchy
loss of vision paracentrally in the left eye; visual fields to
confrontation demonstrated normal blind spot and
peripheral fields. Three weeks later her symptoms
persisted. Fluorescein angiography and repeat
examination were normal. Maculopathy was suspected
and electrophysiological examination was requested.
VEPs (Figure 1) showed P100 component delay from
both eyes, left worse than right. Both eyes showed
greater abnormality in the traces from the contralateral
hemisphere than the ipsilateral, suggestive of chiasmal
dysfunction. PERG showed no macular dysfunction.
Urgent brain MRI revealed a 3?2.3cm pituitary mass
with internal haemorrhage extending superiorly from
the pituitary fossa to abut the optic chiasm (Figure 2).
Subsequent endocrine tests identified the tumour to
Following urgent neurosurgical assessment, she
reported sudden deterioration in vision, suggestive of
apoplexy. Humphrey perimetry then identified a small
right temporal hemianopia, more marked inferiorly, with
more generalized field loss inferotemporally on the left.
She underwent emergency transsphenoidal pituitary
resection. Histology confirmed a nonfunctioning
This case illustrates two important points. First, the
presentation with central visual disturbance reinforces
that the classical bitemporal hemianopia may not occur
in chiasmal compression, present in one series in only 12
of 34 patients.1Second, electrophysiology can detect and
localize chiasmal dysfunction even when visual acuity
and visual fields are normal, being more sensitive than
perimetry or acuity.2–4The key diagnostic feature is that
potentials generated in the hemisphere contralateral to
the stimulated eye show the maximum abnormality.5The
functional localization by VEPs can direct MRI
evaluation, and may assist surgical planning.1
normal control (lower). A heterozygous A-C transversion can
be seen in exon 5 resulting in a tyrosine-to-serine change at
Sequencing results of the patient (upper) and a