VSX2 - SOG

Conferment of the
SSO Poster Prizes
Poster pour le meilleur cas clinique
Poster für die beste Fallvorstellung
Cyclodialysis Cleft after Intravitreal Injection of
Ranibizumab – Diagnosis and Management
Böhni S., Bochmann F., Howell J., Schmid M.
Augenklinik Kantonsspital Luzern
Cyclodialysis Cleft after Intravitreal Injection of
Ranibizumab – Diagnosis and Management
Böhni SC, Howell JP, Bochmann F, Schmid MK
FINANCIAL INTERESTS / GRANTS: Dr. Böhni’s work was funded via an unrestricted educational grant by Novartis Switzerland AG
BACKGROUND
Since the introduction of anti-vascular endothelial growth
factor (anti-VEGF) for treatment of choroidal neovascularisation, the number of intravitreal injections (IVI)
via pars plana has increased tremendously. Complications
of intravitreal injections are rare, but potentially sight
threatening.1
HISTORY AND SIGNS
A 57-year old female underwent her 8 th IVI of
Ranibizumab for treatment of myopic choroidal neoavascularisation. The following bday, the patient presented
with deteriorated visual acuity and an IOP of 2mmHg.
Gonioscopy disclosed a cyclodialysis cleft in the inferonasal quadrant (Figure 1). UBM confirmed the diagnosis
and revealed a splitting of the ciliary body (Figure 2).
e
THERAPY AND OUTCOME
Surgical cleft repair was conducted by dissection of a
limbal based scleral lamella and reattachment of the
ciliary body with a 10/0 polypropylen suture. The sutures
were placed transcamerally through the pupil and the
ciliary sulcus (Figure 3). As expected, the IOP rose to a
very high level on the first postoperative day, which was,
however, manageable with topical and systemic aqueous
suppressants. Two weeks postinterventionally, the IOP
reached normal levels without any further treatment. The
symptoms disappeared and visual acuity recovered.
c
f
Figure 3
Intraoperative picture of the transchamber sutures, showing the
straight needle passing under the iris, leaving the eye via the ciliary
sulcus.
Figure 1
Gonioscopy showing the inferonasal cyclodialysis cleft
CONCLUSIONS
A cyclodialysis cleft is a rare complication of an IVI and
should be suspected in cases with persisting low
intraocular pressure. A careful planning of the injection
site may help to prevent this complication.2 While for
diagnostic measures, gonioscopy and ultrasound
biomicroscopy are the investigations of choice3, from a
therapeutic point of view the reattachment of the ciliary
body using transchamber sutures has shown to be
effective.
REFERENCES
Figure 2
UBM performed one day after the IVI:
Splitting of the ciliary body (Arrow) at eight o‘clock
1 Shima C, Sakaguchi H, Gomi F, Kamei M, Ikuno Y, Sawa M, Tsujikawa M,
Kusaka S, Tano Y (2008) Complications in patients after intravitreal injection of
bevacizumab. Acta Ophthalmol 86: 372-376
2 Dahrab MM, Laroch GR (2011) Error of calibration in ophthalmic calipers: a
source of significant clinical errors. Can J Ophthalmol 46: 510-512
3 Ioannidis AS, Barton K (2010) Cyclodialysis cleft: causes and repair. Curr
Opin Ophthalmol 21: 150-154
Poster pour le meilleur cas clinique
Poster für die beste Fallvorstellung
Autologous internal limiting membrane (ILM) recycling
to close very large refractory macular holes
Wolfensberger T.
Jules Gonin Eye Hospital, University of Lausanne
Autologous internal limiting membrane (ILM) recycling
to close very large refractory macular holes
Thomas J. Wolfensberger
Hôpital ophtalmique Jules-Gonin, Lausanne
Background:
•  Large macular holes refractory to repeated macular surgery with ILM peeling are very difficult to close.
•  Re-peeling of some epiretinal tissue or massaging of the macular hole rim may be done, although its
benefits are debated and it may harm the residual photoreceptors.
Case Report:
• 62 year old female patient, previously operated on elsewhere twice without success for a macular hole by
vitrectomy, ILM peeling, ILM re-peeling and gas tamponnade
• Patient referred with very large stage IV macular hole of 857 µm. Best-corrected visual acuity 0.05p.
Pre-op
Post-op
VA: 0.05
VA: 0.2p
857 µm
Fig 1. Pre-operative OCT with stage IV macular hole (diameter of
857 µm) with marked edematous changes in the outer and inner
retinal layers of the macular hole rim.
Fig 2. Post-operative OCT showing a completely closed macular
hole with disappearance of the edematous changes
Therapy and Outcome:
• 23g vitrectomy with free autologous transplant of ILM taken from the temporal periphery of the
macula and inserted into macular hole before 23% SF6 gas tamponnade.
Fig 3. Pre-operative situation with
denuded ILM peeled during previous
surgeries
ILM
Retina
Bruch
Fig 4 A piece of fresh ILM is peeled
outside the previously peeled area
Fig 5. The ILM transplant is transferred
into the macular hole to create a plug
• Follow-up: Complete closure of the macular hole at 10 days, visual acuity increase to 0.2p at 8 months.
[email protected]
www.ophtalmique.ch
ILM
Retina
Bruch
Conclusion: Autologous ILM recycling to close large macular holes refractory to surgical treatment is a
simple and elegant technique in situations where no other manœuvre is likely to achieve hole closure.
References:
Valldeperas X, Wong D. Is it worth reoperating on macular holes? Ophthalmology. 2008 Jan;115(1):158-63.
D’Souza MJ et al. Re-operation of idiopathic full-thickness macular holes after initial surgery with ILM peel. Br J Ophthal. 2011 Nov;95(11):1564-7.
Morizane Y, et al. Autologous transplantation of the ILM for refractory macular holes. Am J Ophthalmol. 2014 Apr;157(4):861-869
Poster pour la meilleure étude
Poster für die beste Studie
Measurement of optic nerve sheath diameter
by CT, MRI and ultrasound
Giger Tobler C., Eisenack J., Holzmann D., Pangalu A., Sturm V.,
Killer H., Landau K., Jaggi G.
Augenklinik USZ, Zürich, ORL-Klinik Universitätsspital, Zürich, Institut für
Neuroradiologie, Zürich, Kantonsspital Augenklinik, St. Gallen, Kantonsspital
Augenklinik, Aarau
Measurement of optic nerve sheath diameter
by CT, MRI and ultrasound
C. Giger Tobler 1, J. Eisenack 1, D. Holzmann 2, A. Pangalu 3, V. Sturm 4, H.E. Killer 5, K. Landau 1, G.P. Jaggi 1
UniversityHospital
Zurich
1) University Hospital Zurich, Department of Ophthalmology, Zurich, Switzerland
2) University Hospital Zurich, Department of ENL, Zurich, Switzerland
3) University Hospital Zurich, Department of Neuroradiology, Zurich, Switzerland
4) Cantonal Hospital of St.Gallen, Department of Ophthalmology, St.Gallen, Switzerland
5) Cantonal Hospital of Aarau, Departement of Ophthalmolgy, Aarau, Switzerland
No financial interests
Background
Quantification of the optic nerve sheath diameter (ONSD) is promising for detection of altered intracranial pressure [1-4]. Until now the
comparability of current methods is unclear. The objective of this study was to assess the relationship between ONSD, as measured
using CT, MRI and transbulbar sonography (US) in optic nerves of subjects with presumably normal intracranial pressure and to find
correlations and/or significant discrepancies between the different imaging methods [5-6].
Methods
15 patients (60.8 [y] ±16.73 SD; 7 females) with paranasal sinuses pathology without known optic nerve pathology and existing CT and
MRI underwent ONSD measurements by US (Quantel Medical), as well as a complete ophthalmological examination. US-, CT-, and
MRI-derived maximal ONSD values 3mm behind the globe were compared by Bland-Altman plot [7]. Correlation analyses were
performed using Spearman-Rho’s correlation coefficient (ρ). Statistics were performed using SPSS Version 22.0.0.0 (PASW/SPSS IBM
Corporation , New York, NY, USA).
Fig 1
Fig 1: Box-Plot of optic nerve sheath diameter
values measured by CT (blue bar), MRI
(green bar), transbulbar sonography (yellow
bar). r = right eye; l = left eye.
Fig 2
Fig 2: Comparability within CT and MRI by
Bland Altman plot. Continuous line depicts
the mean of difference (-0.14[mm]); dashed
lines denote limits of agreement
(+1.96 SD = 1.08[mm]; -1.96 SD = -1.37).
Right eye (green dot); left eye (red dot).
Fig 4
Fig 3
Fig 3: Comparability within CT and transbulbar
sonography by Bland Altman plot. Continuous
line depicts the mean of difference (-1.01[mm]);
dashed lines denote limits of agreement
(+1.96 SD = 0.73[mm]; -1.96 SD = -2.76).
Right eye (green dot); left eye (red dot)
Fig 4: Comparability within MRI and
transbulbar sonography by Bland Altman plot.
Continuous line depicts the mean of difference
(-0.87[mm]); dashed lines denote limits of
agreement (+1.96 SD = 0.98[mm]; -1.96 SD =
-2.73). Right eye (green dot); left eye (red dot)
Results
ONSD measured (n=30) by US (mean 6.2 [mm]±0.84SD; range 4.6 - 8.3) were significantly (p<0.01) higher than ONSD in CT
(5.2±1.11; range 3.4 - 7.2 ) or MRI (5.3±1.14; range 3.6 - 8.0). [Fig 1] There was no significant (P=0.24) difference but good correlation
(ρ=0.854, p<0.01) between ONSD measured in CT and MRI. Those of US and CT (ρ=0.662, p<0.01) and US and MRI (ρ=0.615,
p<0.01) showed a modest but significant correlation. The Bland Altman analysis revealed a comparability within the methods. [Fig 2-4]
No correlation between ONSD and age as well as ONSD and gender could be seen using multivariate analysis.
Conclusion
The comparability of ONSD measurements between CT, MRI and US seems to be given. Only a modestly significant correlation was
found between US and CT and US and MRI. In this study the measured ONSD by US showed a slightly higher value than ONSD
measured by CT or MRI. Furthermore ONSD by US reported in other studies [5-6] were slightly smaller than in this study. Values for
MRI were completely in accordance with existing studies [6,8].
To the best of our knowledge this study is the first to compare ONSD measurements in a group of subjects in whom all three imaging
studies e.g. CT, MRI and US were used simultanously.
References:
1. Soldatos T, Chatzimichail K, Papathanasiou M, Gouliamos A. Optic nerve sonography: a new window for the non-invasive evaluation of intracranial pressure in brain injury. Emerg Med J 2009;26:630-4.
2. Watanabe A, Kinouchi H, Horikoshi T, Uchida M, Ishigame K. Effect of intracranial pressure on the diameter of the optic nerve sheath. J Neurosurg 2008;109:255-8.
3. Sutherland AI, Morris DS, Owen CG, Bron AJ, Roach RC. Optic nerve sheath diameter, intracranial pressure and acute mountain sickness on Mount Everest: a longitudinal cohort study. Br J Sports Med 2008;42:183-8.
4. Kimberly HH, Noble VE. Using MRI of the optic nerve sheath to detect elevated intracranial pressure. Crit Care 2008;12:181.
5. Maude RR, Hossain MA, Hassan MU, Osbourne S, Sayeed KLA, Karim MR, et al. Transorbital Sonographic Evaluation of Normal Optic Nerve Sheath Diameter in Healthy Volunteers in Bangladesh. PLoS ONE 2013;8(12)
6. Bäuerle J, Schuchardt F, Schroeder L, Egger K, Weigel M, Harloff A. Reproducibility and accuracy of optic nerve sheath diameter assessment using ultrasound compared to magnetic resonance imaging. BMC Neurology 2013;13:187
7. Bland JM, Altman DG. Statistical methods for assessing agreement between two methods of clinical measurement. Lancet 1986;307-10.
8. Weigel M, Lagrèze WA, Lazzaro A, Henning J, Bley TA. Fast and quantitative high-resolution magnetic resonance imaging of the optic nerve at 3.0 tesla. Invest Radiol 2006, 41:83-86
Poster pour la meilleure recherche fondamentale
Poster für die beste Grundlagenforschung
Compound heterozygous VSX2 mutations causing bilateral
anophthalmia in a consanguineous family
Jakobsson C., Youssef M., El Shakankiri N., Marzouk I., Bayoumi N.,
Munier F., Schorderet D., Abou Zeid H.
Jules Gonin Eye Hospital, University of Lausanne, Dpt of Genetic, Univerisity EG-Alexandria,
Dpt of Ophthalmology, University EG-Alexandria, HOJG, Lausanne, IRO, Sion
Compound heterozygous VSX2 mutations causing bilateral anophthalmia
in a consanguineous family.
C.Jakobsson1,2, Mohamed A. Youssef3, Iman Marzouk3, Nihal ElShakankiri4, Nader Bayoumi4, F.L.
Munier1,2, D.F. Schorderet1,2,5 and H. Abouzeid1
1 IRO-Institute
for Research in Ophthalmology, Sion; 2Jules-Gonin Eye Hospital, Fondation Asile des
Aveugles, Department of ophthalmology, University of Lausanne, Lausanne; 3Genetics Unit, Department of
Pediatrics, University of Alexandria, Alexandria, Egypt; 4Department of Ophthalmology, University of Alexandria,
Alexandria, Egypt; 5EPFL-Ecole polytechnique fédérale de Lausanne, Lausanne
PURPOSE: To report the clinical and genetic study of a child with bilateral anophthalmia.
BACKGROUND:
•  Anophthalmia is found in 1 of 5 000 to 10 000 individuals.
•  More than 60% of patients do not receive a molecular
.
diagnosis.
•  The transcription factor SOX2 is the main causing gene for
anophthalmia/microphtalmia (A/M) and is mutated in 10-20% of
patients.
MOLECULAR RESULTS :
•  Sequencing analysis revealed a hemizygous exon 2
mutation in the VSX2 gene, [c.422delA; p.N141Ifs*19] in the
affected child.
•  This mutation was heterozygous in his unaffected father and
absent in his mother, suggesting the presence of a deletion
that included at least exon 2 of VSX2 in the mother.
•  The novel mutation was not detected in 96 controls from
North Africa.
METHODS:
•  One patient, a 14-year-old boy, with clinical anophthalmia and
first-degree relatives from a consanguineous family of Egyptian
origin underwent full ophthalmic, general and neurological
examination, as well as blood drawing.
•  Genomic DNA was extracted from peripheral blood, and genetic
analysis was performed in the parents and the child.
•  Direct sequencing, by Sanger method, of all 5 exons of VSX2
was performed after PCR amplification.
Patient
Mother
Father
FIGURE 1
Pedigree of the consanguineous Egyptian family."
Squares indicate males, circles females. The filled symbol indicates
the affected 14-year-old boy with bilateral anophthalmia and the
double line indicates consanguinity."
CLINICAL RESULTS :
DISCUSSION:
•  In this study, we identified new compound VSX2 deletions
causing bilateral anophthalmia: c.422delA and exon 2
deletion.
•  The novel mutation observed in this study and its absence in
96 healthy individuals from North Africa, strongly suggest
that this change disrupts VSX2 function.
•  To date, only eight different homozygous mutations in VSX2
have been associated to A/M in eleven consanguineous
families descending from Arabic countries or neighbouring
regions.
•  VSX2 is an important gene for embryogenesis, proliferation,
differentiation and fate of the developing cell. Evidence
shows that a restricted expression of VSX2 correspond to a
mice characterized by an abnormal ocular development.
CONCLUSIONS:
[email protected]
www.ophtalmique.ch
•  In addition to bilateral anophthalmia, arachnodactyly
and high arched palate was observed in the affected
patient. He presented normal psychomotor
development and was normal for length, weight and
head circumference.
•  Parents were healthy.
FIGURE 4: Sanger sequencing of VSX2 exon 2. Patient shows
hemizygous deletion of nucleotide A at position 422. Mother
has a wild-type sequence while father is heterozygous for the
deletion. As the mother does not show a heterozygous
sequence, she must have a complete deletion of at least exon
2 of VSX2.
•  A compound heterozygous VSX2 mutation associated with
FIGURE 2
anophthalmia was identified in a patient from a
Photographes of the 14-year-old boy affected by bilateral
consanguineous family of Egyptian origin. This study
anophthalmia. Note the complete absence of both eyes, the large
expands the number of mutations causing severe A/M and
eyebrows and low insertion on the superior eyelid.
the causality of VSX2.
FIGURE 3
Note the arachonodactyly of
the feet
•  Functional consequences of the reported changes still need
to be characterized, as well as the percentage of
anophthalmia caused by mutations in the VSX2.
•  This family also shows that despite consanguinity,
heterozygous mutations can also occur and one should not
restrict the molecular analysis to homozygous mutations.

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