Program Book

ase substitution has not been previously documented as a germ line
mutation associated with retinoblastoma.
Conclusions. Bio-informatic analysis suggests this single base
substitution creates a cryptic splice donor site in intron 9 leading
to aberrant transcription of the RB1 gene. The significance of this
mutation and mechanism to explain the incomplete penetrance is not
known.
Financial disclosure. None
601 RBp130
CNS ABNORMALITIES IN RTB PATIENTS
T. Hadjistilianou1, S. De Francesco1, P. Galluzzi 2, A. Cerase2, A. Renieri3,
F. Mari3, L. Micheli1, M. De Luca1, G.Coriolani4, C. Menicacci1, M. Borri1
(hadjistilian@unisi.it)
1. Ophthalmology Unit, Retinoblastoma Referral Center; 2.
Neuroradiology Unit; 3. Genetics; 4. Dept.of Pediatrics, AOUS-Azienda
Ospedaliera Universaitaria Senese
Purpose. The presence of CNS abnormalities on MR images in a large
group of consecutive patients with retinoblastoma is evaluated. Mental
retardation and congenital brain anomalies are reported in patients with
retinoblastoma, mostly in combination with 13q deletion syndrome.
Pineoblastoma is the most important and “life threatening” condition
associated with hereditary retinoblastoma, but recent studies suggest
an association with pineal cysts.
Methods. MR images of 320 consecutive patients with retinoblastoma
from 2000 to 2010 were evaluated by neuroradiologists for tumors,
structural anomalies, myelinization, and coincidental findings. Clinical
records were reviewed for laterality, heredity, and the presence of the
13q deletion syndrome.
Results. The hereditary group (patients with bilateral and unilateral
proved RB1-germline mutation) included 42 (48%) out of 87 patients.
Nine patients had 13q deletion syndrome. Normal findings on brain
MR images were seen in 307 (96%) patients. One pineoblastoma was
detected in a patient with hereditary retinoblastoma. One arachnoid
cyst in a sporadic unilateral RTB girl. One cerebral and corpus callosum
atrophy, 3 pineal cysts were detected (2 non hereditary, 1 in 13q deletion
syndrome). Corpus callosum agenesis was found in 3 patients (2 13q
deletion syndrome, 1 hereditary RTB), corpus callosum hypoplasia in 3
patients (2 twins, 1 sporadic RTB), both in combination with 13q deletion
syndrome.
Conclusions. Pineoblastoma is associated with hereditary retinoblastoma,
and structural brain abnormalities are associated not only to patients
with the 13q deletion syndrome. Pineal cysts can be detected in patients
with sporadic retinoblastoma and/or with 13q deletion syndrome.
Financial disclosure. None
9 RBp131
OPHTHALMOSCOPIC DIFFERENTIATION OF COATS’
DISEASE FROM RETINOBLASTOMA
Jerry A. Shields, Carol L. Shields (jerryshields@comcast.net)
Wills Eye Institute, Philadelphia PA
Purpose. Coats’disease (CD) and retinoblastoma (RB) are clinically
similar but it is important to differentiate them for clinical and legal
reasons. This study was done to elucidate the clinical differentiate of
these 2 conditions.
RETINOBLASTOMA
Posters
57
Methods. All patients with RB (>1500 cases) and CD (>200 cases)
seen over 30 years were reviewed to establish relative clinical criteria that
serve to differentiate them.
Results. Clinical features that differed in CD and RB included nature of
the pupillary reflex, color of subretinal fluid, and caliber and distribution
of the retinal blood vessels. The pupillary reflex and color of subretinal
material is generally yellow in CD and white to gray with RB. Macular
involvement with CD generally shows yellow lipoproteinaceous
exudation, whereas macular involvement with RB shows a white mass
without exudation. The retinal blood vessels in CD are irregular in
caliber, whereas in RB the retinal vessels are more uniformly dilated and
more tortuous. The blood vessels in CD tend to remain visible from the
posterior pole to the peripheral fundus, whereas the vessels in RB tend
to disappear as dip into the adjacent or underlying neoplasm.
Conclusions. Despite their superficial similarities, CD and RB have
ophthalmoscopic features that differ from one another. Recognition of
these differences can avoid erroneous diagnosis, misdirected therapy,
and legal repercussions.
Financial disclosure. None
2149 RBp132
PROTON IRRADIATION FOR RETINOBLASTOMA
W. Sauerwein1, B. Timmerman2, N. Bornfeld3, J. Herault4, J. Farr2, B.
Zimmermann1, A. Wittig5 (w.sauerwein@uni-due.de)
1. University Duisburg- Essen, University Hospital Essen, Department of
Radiation Oncology, Essen, Germany; 2. WPE gGmbH, Essen, Germany;
3. University Duisburg- Essen, University Hospital Essen, Department of
Ophthalmology, Essen, Germany
4. Cyclotron Biomédicale, Centre Antoine-Lacassagne, 06200 Nice,
France
3. University Duisburg- Essen, University Hospital Essen, Department of
Ophthalmology, Essen, Germany; 5. Klinikum der Philipps-Universität
Marburg. Department of Radiation Oncology Marburg, Germany
Purpose. External beam radiotherapy is a curative treatment in
retinoblastoma leading to excellent functional Results at long term but
burdened by the appearance of secondary cancers. Chemotherapy often
has to be locally supported by coagulative treatments jeopardizing
visual acuity. Furthermore, an increasing number of publication reports
secondary malignancies after cytotoxic drugs in retinoblastoma
patients. There is a need for radiotherapy techniques that reduce the
irradiated volume limiting the dose to the eyeball and sparing normal
tissues. Brachytherapy using radioactive plaques is a well-established
modality but limited to small tumor lesions. Proton therapy offers a
hypothetical approach for further improvements.
Methods. Only 4 retinoblastoma patients received proton treatment by
our group in the last decade. Three were able to collaborate and the
treatment was performed similar to conventional proton irradiation for
uveal melanoma. A five-year-old boy suffered from a recurrent tumor
close to the papilla after a full course of external beam irradiation.
After enucleation of one eye in early childhood, we had to treat a late
recurrence on the other eye that involved not only the retina but also
the anterior chamber. Finally a primary retinoblastoma of the posterior
pole in an adult was irradiated by protons. Another indication was
the irradiation of the orbit in a 1-year-old boy by a ventral field after
enucleation of an eye with involvement of the orbit.
Results. In the first case, vitreal spreading occurred 2 years after PT
and the eye was lost. The histomorphological evaluation showed a
complete control of the proton-irradiated lesion. In the second case,
irradiation with 50 Gy in 25 fractions resulted in a complete remission