Table of Contents - WOC 2012

FP-STR-MO 412 (3)
A Relationship between Hypermetropia and Exophoria in
Asthenopia: Fact or Fallacy?
Grim Millicent (1) , Samson Joserine (1)
1. Gulf Eye Center
Purpose: Determine the relationship between Hyperopia and Exophoria in
higher intensity headaches and eyestrain when doing prolonged near work.
Method: 100 consecutive new patients were analyzed. Von Graefe Method
with Manifest Refraction (with Fogging technique) in place was done to 97
subjects between 6 to 60 years of age using Phoropter, and biggest letter E
of hand-held Snellen Chart at 16 inches / 40cm from the patient as target.
With measuring prism of 15 prisms diopters base-In over the Right eye and
dissociating vertical prism of 6 prism diopters over the Left eye. The patient was
asked to report the target once vertically aligned upon rotating the measuring
prism counter-clockwise. Endpoint was recorded.
Result: More Hyperopic patients proved to be Exophoric at Near Vision,
compared to Myopic patients. In 49 myopic patients seen, the ratio of Exophoria
to Esophoria was 34:13, with 2 Orthophoric patients; whereas in 51 Hyperopic
patients it was 48:2, with one Orthophoric patient.
Conclusion: Results from these 100 subjects, had us conclude the significant
relationship existing between Hyperopia and Exophoria which increases the
intensity of headaches and eyestrain in a patient for near work needs. Convex
lenses and convergence training will alleviate these asthenopic symptoms.
FP-STR-MO 412 (4)
Common Forms of Strabismus in an Eye Clinic in Southwest Nigeria
Olusanya Bolutife (1) , Ayeni O. (2) , Fawole O. (2) , Baiyeroju A. (1)
1. Department of Ophthalmology, University College Hospital, University of
Ibadan
2. Department of Epidemiology and Medical Statistics, University of Ibadan
Objective: Strabismus occurs worldwide and is a disorder of public health
significance because of its psychosocial impact and negative social prejudice.
However, there is a dearth of information on the different forms of strabismus
in Nigerian patients. The purpose of this study was to determine the common
forms of strabismus among patients of an eye clinic in South Western Nigeria.
Methods: Retrospective review of clinical records of 240 patients with
strabismus seen between January 1999 and December 2008.
Results: Prevalence of strabismus was 1.2%. Esotropia was more common
than exotropia. Sensory strabismus was the commonest form of strabismus,
occurring in 83 (34.5%) patients; while accommodative esotropia was found in
only 5.8% patients.
Conclusion: These results suggest that strabismus prevalence may be lower in
Africans compared with other races, while accommodative esotropia appears
to occur less commonly in Africans when compared to Caucasians.
WOC2012 Abstract Book
FP-STR-MO 412 (5)
Next Generation Sequencing Identifies RYR1 Mutations in a
Consanguineous Pedigree with Complete External Ophthalmoplegia
Shaaban Sherin (1,2) , Andrews Caroline (1,3) , Demer Joseph (4,5) ,
Engle Elizabeth (1,2,3)
1. Neurology and Ophthalmology Departments, Children›s Hospital Boston
2. Harvard Medical School
3. Howard Hughes Medical Institute
4. Ophthalmology, Neurology, Jules Stein Eye Institute, University of California
5. Bioengineering and Neuroscience, Jules Stein Eye Institute, University of
California
Objective: Utilize next-generation sequencing (NGS) to define the genetic
etiology of ocular motility disorders.
Methods: Recessive inheritance was expected in 15 consanguineous
pedigrees segregating Congenital Cranial Dysinnervation Disorders (CCDDs)
including Duane, CFEOM and Moebius. Array-based linkage, homozygosity
analysis, and whole exome sequencing (WES) were performed. WES data
was analyzed using GENOMEQUEST, focusing on regions of linkage or
shared homozygosity. The results from one pedigree are presented as proof
of feasibility.
Results: A consanguineous Mexican pedigree included 3 affected individuals
who presented with complete ophthalmoplegia, ptosis and facial diplegia
in addition to developmental delays and hypotonia was studied. Linkage
and homozygosity analysis highlighted a region on chromosome 19 shared
by the 3 affected individuals. Filtering variants to exclude synonymous
heterozygous changes and those present in dbSNP or 1000 genome projects
revealed 2 homozygous mutations in conserved residues of the RYR1 gene
that segregated with the affection in the pedigree and were predicted to be
pathologic. RYR1 mutations have previously been reported to cause minicore
disease with external ophthalmoplegia, which appears to be the clinical
diagnosis of our patients.
Conclusion: Combining linkage, homozygosity analysis and NGS can delineate
the genetic mutations underlying recessive disorders.
FP-STR-MO 412 (6)
Heredity as a Risk Factor for Comitant Strabismus
Shaaban Sherin (1,2) , Andrews Caroline (1,2,3) , Mackinnon Sarah (1) , Hunter
David (1,2) , Engle Elizabeth (1,2,3)
1. Neurology and Ophthalmology Departments, Children›s Hospital Boston
2. Harvard Medical School
3. Howard Hughes Medical Institute
Objective and Purpose: Investigate heredity as a risk factor for comitant
strabismus.
Methods: A cohort of comitant esotropia (ET) and exotropia (XT) probands was
collected from Children’s Hospital Boston. Affection status of first, second
and third degree relatives was investigated. Relatives were “affected with
strabismus” if they had manifest or intermittent strabismus, latent strabismus
>10?, or history of strabismus surgery; or were “affected with strabismusassociated
condition (SAC)” if they had anisometropia, hyperopia, low-grade
stereopsis or vertical strabismus.
Results: The ET group (756 pedigrees) included probands with infantile,
accommodative, intermittent, or manifest ET. The XT group (311 pedigrees)
included infantile, intermittent, or manifest XT. Preliminary analysis (405
probands (285 ET, 120 XT)) revealed 68% of ET probands (and 84% of XT
probands) had > 1 relative with either strabismus or SAC. Subgroup analysis
revealed the percentages of ET probands with >1 relative with strabismus
were infantile 51%, accommodative 51%, intermittent 71% and manifest 66%.
For XT patients the percentages of affected relatives were infantile 50%,
intermittent 63% and manifest 78%.
Conclusion: The strong family history in our cohort supports the heritability of
comitant strabismus and encourages studies towards undermining its genetic
basis.
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