%0 Journal Article
%~ PubMed
%A Ng, Wy
%A Pasutto, F
%A Bardakjian, Tm
%A Wilson, Mj
%A Watson, G
%A Schneider, A
%A Mackey, DA
%A Grigg, Jr
%A Zenker, M
%A Jamieson, Rv
%T A puzzle over several decades: eye anomalies with FRAS1 and STRA6 mutations in the same family.
%B Clinical Genetics
%D 2013
%C United States
%I Wiley-Blackwell Publishing, Inc.
%V 83
%N 2
%P 162-168
%@ 1399-0004
%X Ng WY, Pasutto F, Bardakjian TM, Wilson MJ, Watson G, Schneider A, Mackey DA, Grigg JR, Zenker M, Jamieson RV. A puzzle over several decades: eye anomalies with FRAS1 and STRA6 mutations in the same family. Fraser syndrome (FS) and microphthalmia syndromic 9 (MCOPS9) are autosomal recessive conditions with distinct, and some overlapping features affecting the ocular, respiratory and cardiac systems. Mutations in FRAS1 and FREM2 occur in FS, and mutations in STRA6 occur in MCOPS9. We report two sibships, in the same family, where four deceased offspring had ocular, respiratory and cardiac abnormalities. Two sibs with microphthalmia had syndactyly and laryngeal stenosis, suggesting a clinical diagnosis of FS. Our results indicate that they were compound heterozygotes for novel FRAS1 mutations, p.Cys729Phe and p.Leu3813Pro. The other two sibs, first cousins to the first sib pair, had anophthalmia, lung hypoplasia and cardiac anomalies, suggesting a retrospective diagnosis of MCOPS9. Our results indicate compound heterozygous STRA6 mutations, a novel frameshift leading to p.Tyr18* and a p.Thr644Met mutation. The one surviving individual from these sibships is heterozygous for the p.Tyr18*STRA6 mutation and has bilateral ocular colobomata and microphthalmia. This work emphasises the need for careful phenotypic characterisation to determine genes for assessment in ocular syndromic conditions. It also indicates that heterozygous STRA6 mutations may rarely contribute to microphthalmia and coloboma.
%Z FOR Codes: 111303 60412


%0 Book Section
%A Jamieson, Robyn
%A Grigg, John
%T Clinical embryology and development of the eye
%B Pediatric Ophthalmology and Strabismus 4th Ed
%D 2013
%C United Kingdom, USA
%I Elsevier Ltd
%V 
%N 
%P 6-15
%@ 9780702046919
%X 
%Z FOR Codes: 111301 111401


%0 Book Section
%A Grigg, John
%A Jamieson, Robyn
%T Phakomatoses
%B Pediatric Ophthalmology and Strabismus 4th Ed
%D 2013
%C United Kingdom, USA
%I Elsevier Ltd
%V 
%N 
%P 675-690
%@ 9780702046919
%X 
%Z FOR Codes: 111301 111403


%0 Journal Article
%~ PubMed
%A Souzeau, Emmanuelle
%A Goldberg, Ivan
%A Healey, Paul R
%A Mills, Richard Ad
%A Landers, John
%A Graham, Stuart L
%A Grigg, John Rb
%A Usher, Bronwyn
%A Straga, Tania
%A Crawford, April
%A Casson, Robert J
%A Morgan, William H
%A Ruddle, Jonathan B
%A Coote, Michael A
%A White, Andrew
%A Stewart, James
%A Hewitt, Alex W
%A Mackey, David A
%A Burdon, Kathryn P
%A Craig, Jamie E
%T Australian and New Zealand Registry of Advanced Glaucoma: methodology and recruitment.
%B Clinical and Experimental Ophthalmology
%D 2012
%C Australia
%I Wiley-Blackwell Publishing Asia
%V 40
%N 6
%P 569-575
%@ 1442-9071
%X Background:??? Glaucoma is a sight threatening disease affecting 2-3% of the population over the age of 40. Glaucoma is treatable, and severe vision loss can usually be prevented if diagnosis is made at an early stage. Genetic factors play a major role in the pathogenesis of the condition, and therefore genetic testing to identify asymptomatic at risk individuals is a promising strategy to reduce the prevalence of glaucoma blindness. Furthermore, unravelling genetic risk factors for glaucoma would also allow a better understanding of the pathogenesis of the condition, and the development of new treatments. Design:??? The Australian and New Zealand Registry of Advanced Glaucoma is a prospective study which aims to develop a large cohort of glaucoma cases with severe visual field loss to identify novel genetic risk factors for glaucoma blindness. Methods:??? Clinical information and blood are collected from participants after referral by eye practitioners. Samples are collected across Australia and New Zealand using postage kits. Participants:??? Our registry has recruited just over 2000 participants with advanced glaucoma, as well as secondary and developmental glaucomas. Results:??? A positive family history of glaucoma is present in more than half of the advanced glaucoma cases and the age at diagnosis is significantly younger for participants with affected relatives, which reinforces the involvement of genetic factors in glaucoma. Conclusions:??? With the collection of glaucoma cases recruited so far, our registry aims to identify novel glaucoma genetic risk factors to establish risk profiling of the population and protocols for genetic testing.
%Z FOR Codes: 60411 110399


%0 Journal Article
%~ PubMed
%A Dubey, Rahul
%A Birchall, Wayne
%A Grigg, John
%T Improved Refractive Outcome for Ciliary Sulcus-Implanted Intraocular Lenses.
%B Ophthalmology
%D 2012
%C United States
%I Elsevier Inc.
%V 119
%N 2
%P 261-265
%@ 0161-6420
%X To investigate the ideal correction of intraocular lens (IOL) power for sulcus implantation.
%Z FOR Codes: 111301


%0 Journal Article
%A Chang, John H
%A Jang, John D
%A Jamieson, Robyn
%A Grigg, John
%T Long-Term Follow-Up Study of Autosomal Dominant Optic Atrophy in an Australian Population
%B Asia-Pacific Journal of Ophthalmology
%D 2012
%C United States
%I Lippincott Williams & Wilkins
%V 1
%N 2
%P 88-90
%@ 2162-0989
%X 
%Z FOR Codes: 111301


%0 Journal Article
%A Dubey, Rahul
%A Chan, Kenny
%A Lertsumitkul, Somsak
%A Grigg, John
%A McCluskey, Peter
%T Cataract Surgery Outcomes in New South Wales, Australia
%B Asian Journal of Ophthalmology
%D 2011
%C Netherlands
%I Kugler Publications
%V 12
%N 
%P 124-129
%@ 1560-2133
%X 
%Z FOR Codes: 111301


%0 Journal Article
%~ PubMed
%A Chen, Celia S
%A Lee, Andrew W
%A Campbell, Bruce
%A Lee, Tien
%A Paine, Mark
%A Fraser, Clare
%A Grigg, John
%A Markus, Romesh
%T Efficacy of Intravenous Tissue-Type Plasminogen Activator in Central Retinal Artery Occlusion: Report From a Randomized, Controlled Trial.
%B Stroke; a journal of cerebral circulation
%D 2011
%C United States
%I Lippincott Williams & Wilkins
%V 42
%N 8
%P 2229-34
%@ 1524-4628
%X Central retinal artery occlusion is caused by a platelet-fibrin thrombus or embolic occlusion and is a stroke of the eye. Observational studies suggest that thrombolytics may restore ocular perfusion and visual function. We hypothesized that intravenous tissue-type plasminogen activator (tPA) administered within 24 hours of symptom onset might restore ocular perfusion and visual function.
%Z FOR Codes: 111301


%0 Journal Article
%~ PubMed
%A Arvind, Hemamalini
%A Klistorner, Alexander
%A Grigg, John
%A Graham, Stuart L
%T Low Luminance Contrast Stimulation is Optimal for Early Detection of Glaucoma Using Multifocal Visual Evoked Potentials.
%B Investigative ophthalmology & visual science
%D 2011
%C United States
%I Association for Research in Vision and Ophthalmology
%V 52
%N 6
%P 3744-50
%@ 0146-0404
%X The blue-on-yellow multifocal visual evoked potential (BonY mfVEP) stimulus is more sensitive than the conventional black-and-white pattern-reversal stimulus in identifying early glaucoma. BonY employs pattern-onset stimulation and lower luminance contrast (40%) in addition to color. This study was conducted to elucidate the mechanism responsible for the enhanced performance of the BonY stimulus.
%Z FOR Codes: 111301 110903


%0 Journal Article
%A Fung, Adrian Tien - Chin
%A Azar, Domit
%A Fraser-Bell, Samantha
%A McCluskey, Peter
%A Grigg, John
%T Ockham's razor revisited: decreased visual acuity secondary to keratoconus in a patient with intracranial hypertension
%B BMJ Case Reports
%D 2011
%C United Kingdom
%I BMJ Group
%V 2011
%N 
%P 0
%@ 1757-790X
%X 
%Z FOR Codes: 111301


%0 Journal Article
%~ PubMed
%A Fung, Adrian T
%A Azar, Domit
%A Fraser-Bell, Samantha
%A McCluskey, Peter
%A Grigg, John
%T Ockham's razor revisited: decreased visual acuity secondary to keratoconus in a patient with intracranial hypertension.
%B BMJ Case Reports
%D 2011
%C United Kingdom
%I BMJ Group
%V 2011
%N 
%P bcr0520103030
%@ 1757-790X
%X 
%Z FOR Codes: 111301


%0 Journal Article
%~ PubMed
%A Chen, Celia S
%A Lee, Andrew W
%A Campbell, Bruce
%A Paine, Mark
%A Lee, Tien
%A Fraser, Clare
%A Grigg, John
%A Markus, Romesh
%A Williams, Keryn
%A Coster, Doug J
%T Study of the efficacy of intravenous tissue plasminogen activator in central retinal artery occlusion.
%B International Journal of Stroke
%D 2011
%C Australia
%I Wiley-Blackwell Publishing Asia
%V 6
%N 1
%P 87-89
%@ 1747-4949
%X RATIONALE: Central retinal artery occlusion is a stroke of the eye caused by a blockage of its main blood supply by platelet-fibrin clot. Systemic thrombolysis has been successful in restoring perfusion to ischaemic tissue by fibrin-platelet clot lysis in ischaemic stroke and myocardial infarction. Several open-label studies have demonstrated efficacy of thrombolysis in the treatment of central retinal artery occlusion, with up to 60-70% of treated subjects experiencing an improvement in visual acuity. Most of these are given intraarterially, which is an invasive procedure and not widely applicable to all treatment centres. An alternative is the intravenous infusion of tissue plasminogen activator using existing stroke thrombolysis protocols. A systematic review of all observational studies of intravenous tissue plasminogen activator in acute central retinal artery occlusion showed that 48·5% of subjects had a four line or more visual acuity improvement with an acceptable rate of haemorrhagic complications, creating the equipoise necessary to conduct a randomised controlled trial. AIM: To determine the efficacy of intravenous thrombolysis in acute treatment of central retinal artery occlusion. DESIGN: A phase II, placebo-controlled, double-blind, randomised controlled trial comparing intravenous tissue plasminogen activator at 0·9 mg/kg to placebo (normal saline) 100 ml in a 1:1 block randomisation. STUDY OUTCOME: The primary outcome measure is an improvement of three lines or more on the Snellen visual acuity chart, which signifies a doubling of the visual angle.
%Z FOR Codes: 110202 110905


%0 Journal Article
%~ PubMed
%A Grigg, John
%A Jang, John D W
%A Fung, Adrian T
%A Hunyor, Alex P
%A Wilson, Trevor
%T Trypan Blue to Assess Baerveldt Tube Patency After Repair of Its Obstruction.
%B Journal of Glaucoma
%D 2011
%C United States
%I Lippincott Williams & Wilkins
%V 20
%N 9
%P 571-572
%@ 1057-0829
%X Tubal obstruction is a recognized complication of glaucoma drainage implants. In correcting a blocked tube, the surgeon may be uncertain about shunt competence even after removing the suspected cause of obstruction. We report the use of trypan blue dye to show tubal patency directly after the repair of a blocked Baerveldt tube.
%Z FOR Codes: 1103 1113


%0 Journal Article
%~ PubMed
%A Hackett, Anna
%A Tarpey, Patrick S
%A Licata, Andrea
%A Cox, James
%A Whibley, Annabel
%A Boyle, Jackie
%A Rogers, Carolyn
%A Grigg, John
%A Partington, Michael
%A Stevenson, Roger E
%A Tolmie, John
%A Yates, John Rw
%A Turner, Gillian
%A Wilson, Meredith
%A Futreal, Andrew P
%A Corbett, Mark
%A Shaw, Marie
%A Gecz, Jozef
%A Raymond, F Lucy
%A Stratton, Michael R
%A Schwartz, Charles E
%A Abidi, Fatima E
%T CASK mutations are frequent in males and cause X-linked nystagmus and variable XLMR phenotypes.
%B European journal of human genetics : EJHG
%D 2010
%C United Kingdom
%I Nature Publishing Group
%V 18
%N 5
%P 544-52
%@ 1476-5438
%X Mutations of the calcium/calmodulin-dependent serine protein kinase (CASK) gene have recently been associated with X-linked mental retardation (XLMR) with microcephaly, optic atrophy and brainstem and cerebellar hypoplasia, as well as with an X-linked syndrome having some FG-like features. Our group has recently identified four male probands from 358 probable XLMR families with missense mutations (p.Y268H, p.P396S, p.D710G and p.W919R) in the CASK gene. Congenital nystagmus, a rare and striking feature, was present in two of these families. We screened a further 45 probands with either nystagmus or microcephaly and mental retardation (MR), and identified two further mutations, a missense mutation (p.Y728C) and a splice mutation (c.2521-2A>T) in two small families with nystagmus and MR. Detailed clinical examinations of all six families, including an ophthalmological review in four families, were undertaken to further characterise the phenotype. We report on the clinical features of 24 individuals, mostly male, from six families with CASK mutations. The phenotype was variable, ranging from non-syndromic mild MR to severe MR associated with microcephaly and dysmorphic facial features. Carrier females were variably affected. Congenital nystagmus was found in members of four of the families. Our findings reinforce the CASK gene as a relatively frequent cause of XLMR in females and males. We further define the phenotypic spectrum and demonstrate that affected males with missense mutations or in-frame deletions in CASK are frequently associated with congenital nystagmus and XLMR, a striking feature not previously reported.
%Z FOR Codes: 60410 110906


%0 Journal Article
%~ PubMed
%A Curtin, Jeremy
%A Moloney, Greg
%A Grigg, John
%A Sharota Franzco, Dorian
%T Clinical Characterization and Proposed Mechanism of Juvenile Glaucoma-A Patient with a Chromosome 4p Deletion, Wolf-Hirschhorn Syndrome.
%B Ophthalmic genetics
%D 2010
%C United Kingdom, Cana
%I Informa Healthcare
%V 31
%N 3
%P 135-8
%@ 1744-5094
%X The case presented is that of a 22-year-old male with Wolf-Hirschhorn syndrome who was referred with glaucoma refractory to medical treatment. Six other patients have been described with Wolf-Hirschhorn syndrome (WHS) and glaucoma, most being congenital glaucoma with diagnosis in infancy. We describe the first case of juvenile onset glaucoma in this syndrome. Our patient had narrow angles on gonioscopy, with ultrasound biomicroscopy revealing ciliary body cysts. We alert others to the possibility of this mechanism of secondary narrow angle glaucoma associated with this chromosomal deletion syndrome.
%Z FOR Codes: 111301


%0 Journal Article
%~ PubMed
%A Habot-Wilner, Zohar
%A Sallam, Ahmed
%A Roufas, Athena
%A Kabasele, Paul Mb
%A Grigg, John R
%A McCluskey, Peter
%A Lightman, Sue
%T Periocular corticosteroid injection in the management of uveitis in children.
%B Acta ophthalmologica
%D 2010
%C United States, Unite
%I Wiley-Blackwell Publishing, Inc.
%V 88
%N 8
%P e299-304
%@ 1755-3768
%X Acta Ophthalmol. 2010: 88: e299-e304 ABSTRACT.: Purpose:??? To report the outcome of orbital floor corticosteroid injection (OFCI) in the management of uveitis in children. Methods:??? A retrospective noncomparative interventional case series. The medical records of 15 consecutive children (19 eyes) with various forms of uveitis treated with OFCI of 40???mg/ml methylprednisolone acetate or a combination of 20???mg/0.5???ml Triamcinolone and 2???mg/0.5???ml dexamethasone were reviewed. Data were collected 6???months postinjection and included details of uveitis, best corrected visual acuity (BCVA), ocular inflammation, systemic therapy required and potential complications of OFCI. Results:??? The mean BCVA improvement was 0.18 logarithm of the minimum angle of resolution (p???<???0.001), at a mean of 6???weeks (range, 4-20). Fourteen eyes (74%) had significant improvement in inflammation, 4-7???weeks post-OFCI, with a median of 4???weeks. Anterior uveitis was treated effectively in all eyes, vitritis resolved in all but one case and resolution of cystoid macular oedema was achieved in six eyes (55%). Uveitis relapsed in seven eyes (50%) after a median time of 4???months (range, 2-5???months). Four eyes (21%) underwent more than one injection. The dosage of immunosuppressive systemic therapy was reduced or able to be stopped in three patients (50%). Steroid-induced cataract was observed in four eyes (21%), 5???months post-OFCI. One patient developed cushingoid features 6???weeks post his second OFCI. Conclusion:??? Corticosteroid orbital floor injections resulted in control of active uveitis and visual acuity improvement in most children. However, the effect might be transient and induce cataract formation.
%Z FOR Codes: 111301


%0 Journal Article
%~ PubMed
%A Weaving, Linda
%A Mihelec, Marija
%A Storen, Rebecca
%A Sosic, Drazen
%A Grigg, John R
%A Tam, Patrick P
%A Jamieson, Robyn V
%T Twist2: Role in Corneal Stromal Keratocyte Proliferation and Corneal Thickness.
%B Investigative ophthalmology & visual science
%D 2010
%C United States
%I Association for Research in Vision and Ophthalmology
%V 51
%N 11
%P 5561-70
%@ 0146-0404
%X Twist2 is a member of a family of bHLH transcription factors critical for normal mesenchymal proliferation and differentiation. In this study, the authors analyzed the role of Twist2 in the eye and cornea through examination of a Twist2 loss-of-function mouse mutant.
%Z FOR Codes: 60403 110311 111303


%0 Journal Article
%~ Isi
%A Casson, R. J.
%A Liu, L.
%A Graham, S. L.
%A Morgan, W. H.
%A Grigg, J. R.
%A Galanopoulos, A.
%A Crawford, A.
%A House, P. H.
%T Efficacy and Safety of Bimatoprost as Replacement for Latanoprost in Patients With Glaucoma or Ocular Hypertension A Uniocular Switch Study
%B Journal of Glaucoma
%D 2009
%C United States
%I Lippincott Williams & Wilkins
%V 18
%N 
%P 582-588
%@ 1057-0829
%X 
%Z FOR Codes: 111301


%0 Journal Article
%~ PubMed
%A Arvind, Hemamalini
%A Graham, Stuart
%A Leaney, John
%A Grigg, John
%A Goldberg, Ivan
%A Billson, Frank
%A Klistorner, Alexander
%T Identifying preperimetric functional loss in glaucoma: a blue-on-yellow multifocal visual evoked potentials study.
%B Ophthalmology
%D 2009
%C United States
%I Elsevier Inc.
%V 116
%N 6
%P 1134-1141
%@ 0161-6420
%X PURPOSE: To determine the ability of blue-on-yellow multifocal visual evoked potentials (BonY mfVEP) to identify functional loss in preperimetric glaucoma. DESIGN: Prospective case series. PARTICIPANTS: Thirty patients with glaucomatous optic discs and normal standard visual fields. METHODS: All patients underwent BonY mfVEP, dilated optic disc stereophotography, and optical coherence tomography (Fast RNFL protocol). Optic disc photographs were assessed by 2 independent examiners in a masked fashion. MAIN OUTCOME MEASURES: The mfVEP amplitude asymmetry and latency values were analyzed and compared topographically with findings of disc assessment. Average retinal nerve fiber layer (RNFL) thickness, RNFL asymmetry, and sectors with RNFL thinning were compared between patients with and without mfVEP defects. RESULTS: Fourteen (46.7%) patients demonstrated significant abnormality on amplitude asymmetry deviation plots of BonY mfVEP. In all 14 cases, the defect was monocular and corresponded to the eye with the worse disc. In 13 of 14 patients, the defect also corresponded to the location of the worst affected rim. Average RNFL thickness of eyes with mfVEP defects was 81.2+/-9.9 microm, significantly lower than that of patients without defects (90+/-10.5 microm; P = 0.035). Mean asymmetry of RNFL (better minus worse eye) also was significantly higher for patients with mfVEP defects compared with those without such defects (9.0+/-6.4 microm vs. 3.0+/-7 microm; P = 0.03). Average latency of both eyes of glaucomatous patients was delayed compared with that of controls, with no difference in latency between worse and better eyes of glaucoma patients. There was no association of latency delay with either the location of disc changes or mfVEP amplitude defects. CONCLUSIONS: Amplitude asymmetry of the BonY mfVEP seems to be a promising tool to identify functional loss in preperimetric glaucoma. FINANCIAL DISCLOSURE(S): Proprietary or commercial disclosure may be found after the references.
%Z FOR Codes: 1103 1113 1109


%0 Journal Article
%~ PubMed
%A Mihelec, Marija
%A Abraham, Peter
%A Gibson, Kate
%A Krowka, Renata
%A Susman, Rachel
%A Storen, Rebecca
%A Chen, Yongjuan
%A Donald, Jenny
%A Tam, Patrick Pl
%A Grigg, John R
%A Flaherty, Maree
%A Gole, Glen A
%A Jamieson, Robyn V
%T Novel SOX2 partner-factor domain mutation in a four-generation family.
%B European journal of human genetics : EJHG
%D 2009
%C United Kingdom
%I Nature Publishing Group
%V 17
%N 11
%P 1417-22
%@ 1476-5438
%X Anophthalmia (no eye), microphthalmia (small eye) and associated ocular developmental anomalies cause significant visual handicap. In most cases the underlying genetic cause is unknown, but mutations in some genes, such as SOX2, cause ocular developmental defects, particularly anophthalmia, in a subset of patients. Here, we describe a four-generation family with a p.Asp123Gly mutation in the highly conserved partner-factor interaction region of the SOX2 protein, which is important for cell-specific actions of SOX2. The proband in this family has bilateral anophthalmia and several other family members have milder ocular phenotypes, including typical optic fissure coloboma. Expression studies indicate that Sox2 is expressed in the eye at the site of closure of the optic fissure during development. The SOX2 mutation in this family implicates the partner-factor interaction region of SOX2 in contributing to the specificity of SOX2 action in optic fissure closure. Our findings indicate that investigation of SOX2 in a broad range of eye anomaly patients aids in the determination of particular functions of SOX2 in development.
%Z FOR Codes: 104


%0 Journal Article
%~ Isi
%A Sharan, S.
%A Swamy, B.
%A Taranath, D. A.
%A Jamieson, R.
%A Yu, T.
%A Wargon, O.
%A Grigg, J. R.
%T Port-wine vascular malformations and glaucoma risk in Sturge-Weber syndrome
%B Journal of American Association for Pediatric Ophthalmology and Strabismus
%D 2009
%C United States
%I Mosby, Inc.
%V 13
%N 
%P 374-378
%@ 1091-8531
%X 
%Z FOR Codes: 111301


%0 Journal Article
%~ PubMed
%A Sharan, Sapna
%A Swamy, Brighu
%A Taranath, Deepa Ajay
%A Jamieson, Robyn
%A Yu, Tao
%A Wargon, Orli
%A Grigg, John R
%T Port-wine vascular malformations and glaucoma risk in Sturge-Weber syndrome.
%B Journal of the American Association for Pediatric Ophthalmology and Strabismus
%D 2009
%C United States
%I Mosby, Inc.
%V 13
%N 4
%P 374-378
%@ 1528-3933
%X 
%Z FOR Codes: 1113


%0 Journal Article
%~ PubMed
%A Nemet, Arie Y
%A Danks, Jenny
%A Grigg, John
%T A 7th nerve palsy in a child with Langerhans histiocytosis.
%B Orbit (Amsterdam, Netherlands)
%D 2008
%C United Kingdom
%I Informa Healthcare
%V 27
%N 2
%P 123-5
%@ 1744-5108
%X A 7-year-old girl developed an osteolytic soft tissue mass extending into the right orbital floor and maxillary sinus which was confirmed to be Langerhans cell histiocytosis. Partial lower motor 7th nerve palsy had developed, likely due-to a combination of local swelling from the tumour and the steroids.
%Z FOR Codes: 111301 110906


%0 Journal Article
%~ PubMed
%A Klistorner, Alexander
%A Arvind, Hemamalini
%A Nguyen, Than
%A Garrick, Raymond
%A Paine, Mark
%A Graham, Stuart
%A O'Day, Justin
%A Grigg, John
%A Billson, Francis
%A Yiannikas, Con
%T Axonal loss and myelin in early ON loss in postacute optic neuritis.
%B Annals of neurology
%D 2008
%C United States
%I Wiley-Blackwell
%V 64
%N 3
%P 325-31
%@ 0364-5134
%X To investigate the relation between retinal nerve fiber layer (RNFL) thickness and latency and amplitude of multifocal visual-evoked potentials (mfVEPs) in the postacute stage of optic neuritis in patients with early or possible multiple sclerosis.
%Z FOR Codes: 111301 110906


%0 Journal Article
%~ PubMed
%A Mihelec, Marija
%A St Heaps, Luke
%A Flaherty, Maree
%A Billson, Frank
%A Rudduck, Christina
%A Tam, Patrick P L
%A Grigg, John R
%A Peters, Greg B
%A Jamieson, Robyn V
%T Chromosomal rearrangements and novel genes in disorders of eye development, cataract and glaucoma.
%B Twin Research and Human Genetics
%D 2008
%C Australia
%I Australian Academic Press
%V 11
%N 4
%P 412-421
%@ 1832-4274
%X Abstract Disorders of eye development such as microphthalmia and anophthalmia (small and absent eyes respectively), anterior segment dysgenesis where there may be pupillary and iris anomalies, and associated cataract and glaucoma, often lead to visual impairment or blindness. Currently treatment options are limited, as much is unknown about the molecular pathways that control normal eye development and induce the aberrant processes that lead to ocular defects. Mutation detection rates in most of the known genes are generally low, emphasizing the genetic heterogeneity of developmental ocular defects. Identification of the disease genes in these conditions improves the clinical information available for affected individuals and families, and provides new insights into the underlying biological processes for facilitation of better treatment options. Investigation of chromosomal rearrangements associated with an ocular phenotype has been especially powerful for disease gene identification. Molecular characterization of such rearrangements, which pinpoints the region by physically disrupting the causative gene or its regulatory sequences, allows for rapid elucidation of underlying genetic factors that contribute to the phenotype. Genes including PAX6, PITX2, FOXC1, MAF, TMEM114, SOX2, OTX2 and BMP4 have been identified in this way to be associated with developmental eye disorders. More recently, new methods in chromosomal analysis such as comparative genomic hybridization (CGH) microarray, have also enhanced our ability in disease gene identification.
%Z FOR Codes: 111301


%0 Journal Article
%~ PubMed
%A Do, Helen H-J
%A Mohamed, Armin
%A Klistorner, Alexander
%A Grigg, John
%T Ophthalmic manifestations of demyelination secondary to etanercept.
%B Clinical & experimental ophthalmology
%D 2008
%C Australia
%I Blackwell Science Asia
%V 36
%N 4
%P 392-394
%@ 1442-9071
%X 
%Z FOR Codes: 111301


%0 Journal Article
%~ PubMed
%A Kanthan, Gowri L
%A Grigg, John
%A Billson, Frank
%A Kourt, Gina
%A Conway, R Max
%T Paediatric uveal melanoma.
%B Clinical & Experimental Ophthalmology
%D 2008
%C Australia
%I Blackwell Science Asia
%V 36
%N 4
%P 374-376
%@ 1442-9071
%X Uveal melanoma is extremely rare in the paediatric population and can be associated with various pre-existing conditions. We report the case of a 9-year-old girl with no predisposing factor who presented with choroidal melanoma. A review of the literature is presented and various clinical, histopathological and prognostic features of paediatric uveal melanoma are discussed.
%Z FOR Codes: 111301


%0 Journal Article
%~ PubMed
%A Chilov, Michael N
%A Grigg, John R
%A Playfair, T Justin
%T Bevacizumab (Avastin) for the treatment of neovascular glaucoma.
%B Clinical & experimental ophthalmology
%D 2007
%C Australia
%I Blackwell Publishing Asia
%V 35
%N 5
%P 494-496
%@ 1442-9071
%X Herein three cases of angle closure secondary to neovascularization (elevated intraocular pressure in two of the cases) treated with the anti-vascular endothelial growth factor (VEGF) monoclonal antibody bevacizumab (Avastin) are reported. In all three cases there was rapid resolution of neovascularization and control of intraocular pressure. One patient with corneal anaesthesia from diabetes developed infectious keratitis, potentially as a consequence of inhibition of VEGF wound healing and neurotrophic functions. Avastin appears to have a promising role in the treatment of neovascular glaucoma but is not without potential local and systemic side-effects.
%Z FOR Codes:


%0 Journal Article
%~ PubMed
%A Jamieson, Robyn V
%A Farrar, Nicola
%A Stewart, Katrina
%A Perveen, Rahat
%A Mihelec, Marija
%A Carette, Martin
%A Grigg, John R
%A McAvoy, John W
%A Lovicu, Frank J
%A Tam, Patrick P L
%A Scambler, Peter
%A Lloyd, I Christopher
%A Donnai, Dian
%A Black, Graeme C M
%T Characterization of a familial t(16;22) balanced translocation associated with congenital cataract leads to identification of a novel gene, TMEM114, expressed in the lens and disrupted by the translocation.
%B Human mutation
%D 2007
%C DIV JOHN WILEY & SON
%I Wiley-Liss
%V 28
%N 10
%P 968-977
%@ 1098-1004
%X Molecular characterization of chromosomal rearrangements is a powerful resource in identification of genes associated with monogenic disorders. We describe the molecular characterization of a balanced familial chromosomal translocation, t(16;22)(p13.3;q11.2), segregating with congenital lamellar cataract. This led to the discovery of a cluster of lens-derived expressed sequence tags (ESTs) close to the 16p13.3 breakpoint. This region harbors a locus associated with cataract and microphthalmia. Long-range PCR and 16p13.3 breakpoint sequencing identified genomic sequence in a human genome sequence gap, and allowed identification of a novel four-exon gene, designated TMEM114, which encodes a predicted protein of 223 amino acids. The breakpoint lies in the promoter region of TMEM114 and separates the gene from predicted eye-specific upstream transcription factor binding sites. There is sequence conservation among orthologs down to zebrafish. The protein is predicted to contain four transmembrane domains with homology to the lens intrinsic membrane protein, LIM2 (also known as MP20), in the PMP-22/EMP/MP20 family. TMEM114 mutation screening in 130 congenital cataract patients revealed missense mutations leading to the exchange of highly-conserved amino acids in the first extracellular domain of the protein (p.I35T, p.F106L) in two separate patients and their reportedly healthy sibling and mother, respectively. In the lens, Tmem114 shows expression in the lens epithelial cells extending into the transitional zone where early fiber differentiation occurs. Our findings implicate dysregulation of expression of this novel human gene, TMEM114, in mammalian cataract formation.
%Z FOR Codes: 111301


%0 Journal Article
%~ PubMed
%A Arvind, Hemamalini
%A Klistorner, Alexander
%A Graham, Stuart
%A Grigg, John
%A Goldberg, Ivan
%A Klistorner, Asya
%A Billson, Frank A
%T Dichoptic stimulation improves detection of glaucoma with multifocal visual evoked potentials.
%B Investigative ophthalmology & visual science
%D 2007
%C US
%I Association for Research in Vision and Ophthalmolo
%V 48
%N 10
%P 4590-4596
%@ 0146-0404
%X PURPOSE: To determine whether simultaneous binocular (dichoptic) stimulation for multifocal visual evoked potentials (mfVEP) detects glaucomatous defects and decreases intereye variability. METHODS: Twenty-eight patients with glaucoma and 30 healthy subjects underwent mfVEP on monocular and dichoptic stimulation. Dichoptic stimulation was presented with the use of virtual reality goggles (recording time, 7 minutes). Monocular mfVEPs were recorded sequentially for each eye (recording time, 10 minutes). RESULTS: Comparison of mean relative asymmetry coefficient (RAC; calculated as difference in amplitudes between eyes/sum of amplitudes of both eyes at each segment) on monocular and dichoptic mfVEP revealed significantly lower RAC on dichoptic (0.003 +/- 0.03) compared with monocular testing (-0.02 +/- 0.04; P = 0.002). In all 28 patients, dichoptic mfVEP identified defects with excellent topographic correspondence. Of 56 hemifields (28 eyes), 33 had Humphrey visual field (HFA) scotomas, all of which were detected by dichoptic mfVEP. Among 23 hemifields with normal HFA, two were abnormal on monocular and dichoptic mfVEP. Five hemifields (five patients) normal on HFA and monocular mfVEP were abnormal on dichoptic mfVEP. In all five patients, corresponding rim changes were observed on disc photographs. Mean RAC of glaucomatous eyes was significantly higher on dichoptic (0.283 +/- 0.18) compared with monocular (0.199 +/- 0.12) tests (P = 0.0006). CONCLUSIONS: Dichoptic mfVEP not only detects HFA losses, it may identify early defects in areas unaffected on HFA and monocular mfVEP while reducing testing time by 30%. Asymmetry was tighter among healthy subjects but wider in patients with glaucoma on simultaneous binocular stimulation, which is potentially a new tool in the early detection of glaucoma.
%Z FOR Codes:


%0 Journal Article
%~ PubMed
%A Kumar, Rajesh S
%A Grigg, John
%A Farinelli, Adrian C
%T Ecstasy induced acute bilateral angle closure and transient myopia.
%B The British Journal of Ophthalmology
%D 2007
%C United Kingdom
%I BMJ Group
%V 91
%N 5
%P 693-695
%@ 0007-1161
%X 
%Z FOR Codes: 111301


%0 Journal Article
%~ PubMed
%A Klistorner, Alexander
%A Graham, Stuart
%A Fraser, Clare
%A Garrick, Raymond
%A Nguyen, Tan
%A Paine, Michael
%A O'day, Justin
%A Grigg, John
%A Arvind, Hemamalini
%A Billson, Frank A
%T Electrophysiological evidence for heterogeneity of lesions in optic neuritis.
%B Investigative ophthalmology & visual science
%D 2007
%C US
%I Association for Research in Vision and Ophthalmolo
%V 48
%N 10
%P 4549-4556
%@ 0146-0404
%X PURPOSE: To examine the natural history of multifocal visual evoked potentials (mfVEPs) within 12 months of the first episode of optic neuritis (ON) in patients with possible multiple sclerosis (MS). METHODS: Twenty-seven patients with a first episode of ON, no previous demyelinating events, and MRI lesions consistent with demyelination were examined with mfVEP. Changes in amplitude and latency of mfVEP were analyzed at 1, 3, 6, and 12 months after an acute attack. RESULTS: Five of 27 patients had persistent loss of amplitude after 12 months of follow-up. This loss was most marked centrally. Amplitude recovered in the remaining 22 patients at 1 month, but delayed latency, which was also most marked centrally, persisted. Of these, two distinct subgroups were identified: six patients with no improvement in latency and 16 patients with significant latency recovery over the 12 months of follow-up, suggesting remyelination. Conversion to MS was highest in the group with severe amplitude loss, followed by the group with no latency recovery. The conversion rate was lowest in the group of patients with latency improvement. CONCLUSIONS: Distinct patterns of disease evolution were identified using mfVEP in patients with first episode of optic neuritis and at high risk for MS, supporting the concept of heterogeneity of early lesions in MS.
%Z FOR Codes:


%0 Journal Article
%~ PubMed
%A Arvind, Hemamalini
%A Hunyor, Alex
%A McClellan, Kathy
%A Billson, Francis
%A Grigg, John
%A Jamieson, Robyn
%T Management of intraoperative tilting of the scleral-fixated intraocular lens in classical aniridia.
%B The British Journal of Ophthalmology
%D 2007
%C United Kingdom
%I BMJ Group
%V 91
%N 9
%P 1247-1248
%@ 0007-1161
%X 
%Z FOR Codes: 111301


%0 Journal Article
%~ PubMed
%A Klistorner, Alexander
%A Graham, Stuart L
%A Martins, Alessandra
%A Grigg, John R
%A Arvind, Hemamalini
%A Kumar, Rajesh S
%A James, Andrew C
%A Billson, Francis A
%T Multifocal blue-on-yellow visual evoked potentials in early glaucoma.
%B Ophthalmology
%D 2007
%C United States
%I Elsevier
%V 114
%N 9
%P 1613-1621
%@ 0161-6420
%X OBJECTIVE: To determine the sensitivity and specificity of blue-on-yellow multifocal visual evoked potentials (mfVEPs) in early glaucoma. DESIGN: Cross-sectional study. PARTICIPANTS: Fifty patients with a confirmed diagnosis of early glaucoma and 60 normal participants. METHODS: Black-and-white mfVEPs and blue-on-yellow mfVEPs were recorded using the Accumap version 2.0 (ObjectiVision Pty. Ltd., Sydney, Australia). All patients also underwent achromatic standard automated perimetry (SAP). MAIN OUTCOME MEASURES: Multifocal VEP amplitude and latency values in glaucoma patients were analyzed and compared with those of the normal controls. RESULTS: Based on the definition of visual field defect, in the group of glaucomatous eyes with SAP defects, amplitude of blue-on-yellow mfVEP was abnormal in all 64 cases (100% sensitivity), whereas black-and-white mfVEP missed 5 cases (92.2% sensitivity). Generally, larger scotomata were noted on blue-on-yellow mfVEP compared with black-and-white mfVEP for the same eyes. There was high topographic correspondence between SAP and amplitude of blue-on-yellow mfVEP and significant (P<0.0001) correlation between them (correlation coefficient, 0.73). Abnormal amplitude was detected in 3 of 60 eyes of control subjects (95% specificity). There was, however, no correlation between visual field defect and latency delay in glaucoma patients. Although there was a significant difference between averaged latency of control and glaucoma eyes, values considerably overlapped. CONCLUSIONS: The blue-on-yellow mfVEP is a sensitive and specific tool for detecting early glaucoma based on amplitude analysis.
%Z FOR Codes:


%0 Journal Article
%~ PubMed
%A Halpagi, P
%A Grigg, J
%A Klistorner, A
%A Damian, D L
%T Night blindness following low-dose isotretinoin.
%B Journal of the European Academy of Dermatology and Venereology : JEADV
%D 2007
%C United Kingdom
%I Blackwell Publishing Ltd.
%V 22
%N 0
%P 893-4
%@ 0926-9959
%X 
%Z FOR Codes:


%0 Journal Article
%~ PubMed
%A Swamy, Brighu Narayan
%A Billson, Frank
%A Martin, Frank
%A Donaldson, Craig
%A Hing, Stephen
%A Smith, James Eh
%A Jamieson, Robyn
%A Grigg, John
%T Secondary glaucoma after paediatric cataract surgery.
%B The British journal of ophthalmology
%D 2007
%C United Kingdom
%I BMJ Publishing Group
%V 91
%N 12
%P 1627-30
%@ 1468-2079
%X To determine the prevalence and risk factors associated with secondary glaucoma postcongenital cataract surgery.
%Z FOR Codes: 110906