Table of Contents - WOC 2012

PO-PED-26
Prevalence of RDS peripherin mutations in Tunisian families with
retinal dystrophies
Largueche Leila (1) , Ouechtati Farah (1) , Chebil Ahmed (1) , Kort Fedra (1) , El
Matri Liela (1)
1. Department B of Ophthalmology, Hedi Rais Institute of Ophthalmology
Purpose: To evaluate the relevance of RDS gene in Tunisian families displaying
an inter- and intra- familial clinical heterogeneity in retinal dystrophies.
Methods: Blood samples were obtained from four families including 12
available patients presenting with 6 retinal dystrophies, and 3 healthy relatives.
Each patient underwent a detailed clinical examination. Genomic DNA
was extracted from the blood samples and screened for mutations in RDS
peripherin gene.
Results: Sequence analysis of the human RDS/peripherin gene led to the
identification of five non disease-causing changes Vall06Val, Glu304Gln,
Lys310Arg, Gly338Asp and IVS3+15 C>T. None of them could explain the
significant phenotypic differences between retinitis pigmentosa, fundus
flavimaculatus, bull›s eye maculopathy, related Stargardt disease retinopathies
and retinitis punctata albescens.
Conclusions: This study showed that RDS mutations have a low prevalence in
retinal dystrophies. The frequency of peripherin mutations appears to be similar
to Italian (0-1.4%), Indonesian and Japenese populations (0–1.9%). To our
knowledge, this is the first report to identify frequencies of RDS mutations in
retinal dystrophies patients in Tunisia.
PO-PED-27
Congenital fibrosis of extraocular muscles
Al-Hosni Amna (1) , Ganesh Anuradha (1) , Alzuhaibi Sana (1) , Cooymans Pas-
(1) (1) cale
1. Ophthalmology Residency Program -Oman Medical Speciality Board
Purpose: Report four patients presented to Pediatric Ophthalmology at Sultan
Qaboos University Hospital between 2005 - 2009 and diagnosed with congenital
fibrosis of extraocular muscles (CFEOM) based on clinical examination and
radiological work-up .Delineate clinical and neuroradiological aspects of
CFEOM and discuss management . Design: Retrospective case series
Methods: The database of a diagnosed patients with CFEOM was reviewed.
Their clinical records with detailed history ,ophthalmic examination, systemic
evaluation and the results of the radiological studies were extracted.
Results: Four patients (2 males and 2 females) aged 8month-9 years were
identified. All cases presented with bilateral severe congenital ptosis and
abnormal head posture. All showed moderate to large angle exotropia with
variable limitation in horizontal & vertical gaze. Two patients showed a Marcus-
Gunn jaw winking phenomenon. Developmental delay was noted in two
patients. MRI brain and orbit showed abnormalities of the extraocular muscles
in two patients and brain malformation in two patients.
Conclusions: CFEOM is a rare congenital, incomitant strabismus ,believed to
be a primary neurogenic disorder with secondary myopathy . It has different
sub-types with characteristic clinical features.The options for treatment are
limited and difficult, and correction of the strabismus and ptosis are challenging.
WOC2012 Abstract Book
PO-PED-28
OPA1 GENE MUTATIONS: GENOTYPE / PHENOTYPE CORRELATION
IN 21 SPANISH PATIENTS
Martin Elvira (1) , Villaverde Cristina (2) , Blanco-Kelly F (2) , Ayuso Carmen (2) ,
Bonneau Patrizia (3)
1. Spanish National Organisation for Blind People
2. Genetics Fundacion Jimenez Diaz
3. Laboratoire de Biochimie et Biologie Moléculaire, CHU Angers
AUTOSOMAL DOMINANT OPTIC ATROPHY (OPA1), IS THE MOST
COMMON INHERITED FORM OF OPTIC NEUROPATHY. IT IS A
PROGRESSIVE DISORDER WHOSE TYPICAL PHENOTYPE CONSIST OF
LOSS OF VISUAL ACUITY, CENTRAL OR PARA-CENTRAL SCOTOMAE,
CHROMATIC VISUAL ALTERATIONS AND BILATERAL OPTIC NERVE
ATROPHY. IT IS CAUSED BY MUTATIONS IN OPA1 (3q28-q29) , ABOUT 120
MUTATIONS HAVE BEEN DESCRIBED, BUT NO DEFINED PHENOTYPE/
GENOTYPE CORRELATION HAS BEEN MADE YET. METHODS 21
OPA1 MUTATED PATIENTS, BELONGING TO 14 UNRELATED FAMILIES
FROM 107 MOLECULARLY SCREENED WERE STUDIED. MOLECULAR
ANALYSES INCLUDED ADOA COMMERCIAL ARRAY (ASPERBIO)
AND DIRECT SEQUENCING. COMPLETE OPHTHALMOLOGICAL AND
CLINICAL STUDIES WERE PERFORMED IN ALL THE CASES. RESULTS 14
DIFFERENT MUTATIONS WERE FOUND (6 NONSENSE, 3 FRAMESHIFT,
2 SPLICING AND 3 MISSENSE) AGE OF ONSET (10+-6.42 YRS), AGE
AT DIAGNOSIS (29+-16.9 YEARS) AND VISUAL ACUITY AT DIAGNOSIS
(0.32+-0,26 RE) ; (0,31+-0,27 LE) AT DIAGNOSIS, 19% CASES PRESENTED
VISUAL CHROMATIC ALTERATIONS AND 48% ATROPHIC OPTIC
DISC (COMPLETE DISC PALLOR) AND 19% OPA PLUS PHENOTYPE.
THE ASSOCIATED SYMPTOMS WERE SPASTIC TETRAPARESIA ,
HYPOACUSIA AND ATAXIA CONCLUSIONS OUR PATIENTS PRESENTED
THE OPA TYPICAL PHENOTYPE. 3 MUTATIONS PREVIOUSLY REPORTED
AS ASSOCIATED TO OPAPLUS PHENOTYPE IN THE LITERATURE, WERE
ALSO ASSOCIATED TO THIS PHENOTYPE IN OUR CASES
PO-PED-29
Higher order aberrations and amblyopia : Comparison of higher
order aberration profiles of normal and amblyopic eyes in children
with idiopathic amblyopia
Prakash Gaurav (1,2) , Sharma Namrata (1) , Saxena Rohit (1)
1. All India Institute of Medical Sciences
2. Dr Agarwal Eye Hospital Ltd
Objective : To evaluate the higher order aberrations as a possible cause for
idiopathic amblyopia.
Methods: In this cross sectional observational trial, 17 patients of previously
diagnosed idiopathic amblyopia underwent wavefront analysis on Zyoptix
platform (Bausch and Lomb).
Results: The mean age was 9.2±2.8 years. The higher order aberrations
(HOA) were analyzed using stepwise regression analysis to find out the
predictive value for each HOA term by all other HOA terms .Maximum difference
in the R-squared values between amblyopic and fellow eyes was seen with
coma-like and trefoil-like aberrations (third order and fifth order terms). Third
order : horizontal coma (R2=0.3 for fellow versus 0.0 amblyopic), vertical trefoil
(R2 = 0.8 for fellow versus 0.4 for amblyopic), horizontal trefoil (R2=0.3 for
fellow versus 0.8 for amblyopic); Fifth order : secondary vertical coma (R2=0.9
for fellow versus 0.8 for amblyopic), secondary horizontal coma (R2=0.4 for
fellow versus 0.5 for amblyopic), and secondary vertical trefoil (R2=0.4 for
fellow versus 0.7 for amblyopic), secondary horizontal trefoil (R2=0.6 for fellow
versus 0.9 for amblyopic).
Conclusion: It seems a strong possibility that a subset of ‹idiopathic› amblyopia
may be associated with loss of symmetry in wavefront patterns of the two eyes.
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