Table of Contents - WOC 2012

WOC2012 Abstract Book
PO-RET-130
Determination of polymorphism of factor V leiden and prothrombin
G20210A in the patients with retinal vascular occlusion
Manaviat Masoud Reza (1) , Ghasemi Nasrin (1) , Karimi Azam (1)
1. Faculty of Medicine, Shahid Sadoughi University
Objective: Retinal vascular occlusion can result in intensive decrease of vision
even to blindness.There is not an effective therapeutic mode to recover the
vision of these patients, one of the best ways to assist them is finding the risk
factors.
Methods: The present study was done in order to determine polymorphism of
factor V Leiden and prothrombin G20210A in 28 patients with retinal vascular
occlusion and 50 normal people . The control group had no problem related to
coagulapathy state.
Results:Age of patients with retinal vascular occlusion was between 27-59
years old , 19 men and 9 women. Age of control group was between 25-58 . 34
men and 19 women. Among case group 18 patients were affected by central
retinal vein occlusion (64.28), 7 affected by branch retinal vein occlusion (25%),
2 affected by central retinal artery occlusion (7.1%), 1 patient was affected by
branch retinal artery occlusion (3.5%).Homozygote carriers and heterozygote
factor V leiden and or prothrombin did not find in any of cases and controls.
Conclusion:Mutation of factor V leiden and prothrombin G20210A should be
low in our region. Factor V Leiden and prothrombin G20210A probably are not
risk factor for retinal vascular occlusion.
PO-RET-131
Genotype-phenotype correlation in a large Tunisian family with
complete achromatopsia GNAT2 mutations
Merdassi Ahlem, Ouechtati Farah, Abdelhak Sonia, El Matri Leila
1. Hedi Rais Institute of Ophthalmology
2. Institut Pasteur
Purpose: Complete achromatopsia is a rare autosomal recessive disease due
to CNGA3, CNGB3, GNAT2 and PDE6C mutations. We studied a large
consanguineous Tunisian family including twelve individuals.
Methods: Ophthalmic evaluation included a full clinical examination, color
vision testing, optical coherence tomography and electroretinography. Linkage
analysis and mutations screening were performed for GNAT2 gene.
Results: In all affected subjects, acuity ranged from 20/50 to 20/200. Fundus
examination was normal. Likewise retinal layers exploration by OCT revealed
no change in the thickness of the central retina. Color Vision with 100 Hue
Farnsworth test described a profound color impairment along all three axes
of color vision. A homozygous novel nonsense mutation R313X was identified
in GNAT2 gene. This mutation could interrupt interaction with photoactivated
rhodopsin, resulting in a failure of visual transduction and a clearly abolished
photopic b-wave and flicker responses with no residual cone function. This
clinical form seems to be the most severe compared with the CNGA3 and
CNGB3 subtypes of complete achromatopsia.
Conclusions: This is the first report of complete achromatopsia in North Africa
in the largest family with recessive achromatopsia involving GNAT2, thus
providing a unique opportunity for genotype phenotype correlation for this
extremely rare condition.
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PO-RET-132
The Use of Intravitreal Bevacizumab In The Treatment of Retinal
Disorders Other Than Age Related Macular Degeneration
Ansari Gulrez (1) , Chandran Manju (1) , Nair Narendran (1) , Jain Nitin (1) , Menon
Geeta (1)
1. Frimley Park Hospital NHS Foundation Trust
Purpose: To assess the results of Intravitreal bevacizumab (IVB) in the
management of diabetic macular edema (DME) refractory to laser
photocoagulation and macular edema (ME) secondary to branch and central
retinal vein occlusion (BRVO and CRVO), and pseudophakic cystoid macular
edema (CME)
Methods: Retrospective review of case series of all patients undergoing IVB
treatment in our unit, for indications listed above. All patients completed 6
months follow-up and were assessed at 6 weekly intervals. Their logMAR
visual acuity and central macular thickness (CMT) measurements were noted.
The IVB treatment was undertaken when indicated (PRN dosing regimen).
Results: Twenty- nine eyes underwent IVB treatment for refractory DME
(n=15), ME secondary to BRVO (n=5) and CRVO (n=6) and pseudophakic
CME (n=3). The mean vision at 6 months improved in the CRVO, BRVO and
DME groups by 14, 9 and 6.4 letters respectively. The mean CMT reduction
was maximum in the CRVO group with 201 microns reduction, followed by the
BRVO and DME groups. In the pseudophakic CME group the vision dropped
and CMT increased.
Conclusion: IVB treatment is effective in maintaining vision and reducing CMT
in short term for various vascular retinopathy related ME.
PO-RET-133
Choroidal Melanoma in association with juxtapapillary
melanocytoma. Case report.
Al Rashaed Saba (1) , Al-Katan Hind (1)
1. King Khaled Eye Specialist Hospital
Purpose: To report a rare example case of choroidal melanoma associated
with juxtapapillary melanocytoma. Method: Clinical data including visual
acuity, color fundus photographs, fluorescein angiography, ultra sonogram and
histopathologic studies of this case were reviewed.
Result: A 68-year-old Saudi man was evaluated for sudden painless loss of
vision in left eye for duration of 4 months. His vision in the affected eye was
counting fingers near the face. Fundus examination showed an elevated
dark brown lesion with jet black color partially overlying the optic disc inferotemporally
with an associated sub-retinal and vitreous hemorrhage. Ultrasound
showed moderate internal reflectivity with moderate sound attenuation of a
vascular mass. The eye was enucleated and histopathological section showed
two types of cells: 1) round to oval with abundant cytoplasm, pigment granules
and small nucleus representing melanocytoma cells and 2) spindle-B cells
representing the developing melanoma with atypical mitotic figures identified,
which invade the adjacent optic nerve. This was further supported by positive
immunostaining with HMB45.
Conclusion: This is one of the few documented cases of choroidal melanoma
that was associated with juxtapapillary melanocytoma. Periodic follow-up of
the patient with optic disc melanocytoma is necessary. Keywords: Choroidal
melanoma, melanocytomas, histopathology, follow-up.