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2. P Score: A Reference Image-Based Clinical Grading Scale for Vascular Change in Retinopathy of Prematurity

Author

Chiang, Michael F., Quinn, Graham E., Fielder, Alistair R., Ostmo, Susan R., Chan, R. V. Paul, Berrocal, Audina, Binenbaum, Gil, Blair, Michael, Campbell, J. Peter, Capone, Antonio, Jr., Chen, Yi, Dai, Shuan, Ells, Anna, Fleck, Brian W., Good, William V., Hartnett, M. Elizabeth, Holmstrom, Gerd, Kusaka, Shunji, Kychenthal, Andrés, Lepore, Domenico, Lorenz, Birgit, Martinez-Castellanos, Maria Ana, O¨zdek, Şengu¨l, Ademola-Popoola, Dupe, Reynolds, James D., Shah, Parag K., Shapiro, Michael, Stahl, Andreas, Toth, Cynthia, Vinekar, Anand, Visser, Linda, Wallace, David K., Wu, Wei-Chi, Zhao, Peiquan, Zin, Andrea, Baran, Francine, Barry, Gerard, Bhatt, Amit, Davitt, Bradley, de Alba Campomanes, Alejandra, Eldib, Amgad, Geddie, Brooke E., Haider, Kathryn, Jensen, Anne, Khitri, Monica, Pihlblad, Matthew, Repka, Michael, Robbins, Shira, Rodriguez, Sarah, Coyner, Aaron S., He, Jocelyn, Ying, Gui-shuang, and Ostmo, Susan

Published
2024
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7. UK screening and treatment of retinopathy of prematurity Updated 2022 Guidelines

Author

Wilkinson, A.R., primary, Adams, G.G.W., additional, Fleck, B.W., additional, Nieto-Hernandez, R., additional, Adams, Gillian, additional, Anderson, Josie, additional, Allen, Louise, additional, Bezalel, Debbie, additional, Biswas, Susmito, additional, Fielder, Alistair, additional, Flanagan, Julie, additional, Fleck, Brian W., additional, Foot, Barny, additional, Husain, Shahid, additional, Jackson, Charlotte, additional, Lahorgue, Eleanor, additional, Mactier, Helen, additional, McElroy, Helen, additional, Narayanan, Sankara, additional, Nieto-Hernandez, Rosa, additional, Oddie, Sam, additional, Parsi, Catherine, additional, Patel, C.K., additional, Pilling, Rachel, additional, Ray, Sagarika, additional, Shafiq, Ayad, additional, Soe, Aung, additional, Da Camara, Nishanthi Talawila, additional, and Wilkinson, Andrew R., additional

Published
2023
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10. International Classification of Retinopathy of Prematurity, Third Edition

Author

Chiang, Michael F., primary, Quinn, Graham E., additional, Fielder, Alistair R., additional, Ostmo, Susan R., additional, Paul Chan, R.V., additional, Berrocal, Audina, additional, Binenbaum, Gil, additional, Blair, Michael, additional, Peter Campbell, J., additional, Capone, Antonio, additional, Chen, Yi, additional, Dai, Shuan, additional, Ells, Anna, additional, Fleck, Brian W., additional, Good, William V., additional, Hartnett, M. Elizabeth, additional, Holmstrom, Gerd, additional, Kusaka, Shunji, additional, Kychenthal, Andrés, additional, Lepore, Domenico, additional, Lorenz, Birgit, additional, Martinez-Castellanos, Maria Ana, additional, Özdek, Şengül, additional, Ademola-Popoola, Dupe, additional, Reynolds, James D., additional, Shah, Parag K., additional, Shapiro, Michael, additional, Stahl, Andreas, additional, Toth, Cynthia, additional, Vinekar, Anand, additional, Visser, Linda, additional, Wallace, David K., additional, Wu, Wei-Chi, additional, Zhao, Peiquan, additional, and Zin, Andrea, additional

Published
2021
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13. Large scale international replication and meta-analysis study confirms association of the 15q14 locus with myopia. The CREAM consortium

Author

Verhoeven, Virginie J. M., Hysi, Pirro G., Saw, Seang-Mei, Vitart, Veronique, Mirshahi, Alireza, Guggenheim, Jeremy A., Cotch, Mary Frances, Yamashiro, Kenji, Baird, Paul N., Mackey, David A., Wojciechowski, Robert, Ikram, M. Kamran, Hewitt, Alex W., Duggal, Priya, Janmahasatian, Sarayut, Khor, Chiea-Chuen, Fan, Qiao, Zhou, Xin, Young, Terri L., Tai, E-Shyong, Goh, Liang-Kee, Li, Yi-Ju, Aung, Tin, Vithana, Eranga, Teo, Yik-Ying, Tay, Wanting, Sim, Xueling, Rudan, Igor, Hayward, Caroline, Wright, Alan F., Polasek, Ozren, Campbell, Harry, Wilson, James F., Fleck, Brian W., Nakata, Isao, Yoshimura, Nagahisa, Yamada, Ryo, Matsuda, Fumihiko, Ohno-Matsui, Kyoko, Nag, Abhishek, McMahon, George, Pourcain, Beate St., Lu, Yi, Rahi, Jugnoo S., Cumberland, Phillippa M., Bhattacharya, Shomi, Simpson, Claire L., Atwood, Larry D., Li, Xiaohui, Raffel, Leslie J., Murgia, Federico, Portas, Laura, Despriet, Dominiek D. G., van Koolwijk, Leonieke M. E., Wolfram, Christian, Lackner, Karl J., Tönjes, Anke, Mägi, Reedik, Lehtimäki, Terho, Kähönen, Mika, Esko, Tõnu, Metspalu, Andres, Rantanen, Taina, Pärssinen, Olavi, Klein, Barbara E., Meitinger, Thomas, Spector, Timothy D., Oostra, Ben A., Smith, Albert V., de Jong, Paulus T. V. M., Hofman, Albert, Amin, Najaf, Karssen, Lennart C., Rivadeneira, Fernando, Vingerling, Johannes R., Eiríksdóttir, Guðný, Gudnason, Vilmundur, Döring, Angela, Bettecken, Thomas, Uitterlinden, André G., Williams, Cathy, Zeller, Tanja, Castagné, Raphaële, Oexle, Konrad, van Duijn, Cornelia M., Iyengar, Sudha K., Mitchell, Paul, Wang, Jie Jin, Höhn, René, Pfeiffer, Norbert, Bailey-Wilson, Joan E., Stambolian, Dwight, Wong, Tien-Yin, Hammond, Christopher J., and Klaver, Caroline C. W.

Published
2012
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17. Genome-wide association study identifies genetic risk underlying primary rhegmatogenous retinal detachment

Author

Kirin, Mirna, Chandra, Aman, Charteris, David G., Hayward, Caroline, Campbell, Susan, Celap, Ivana, Bencic, Goran, Vatavuk, Zoran, Kirac, Iva, Richards, Allan J., Tenesa, Albert, Snead, Martin P., Fleck, Brian W., Singh, Jaswinder, Harsum, Steven, MacLaren, Robert E., den Hollander, Anneke I., Dunlop, Malcolm G., Hoyng, Carel B., Wright, Alan F., Campbell, Harry, Vitart, Veronique, and Mitry, Danny

Published
2013
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19. Retinal Haemorrhages in Childhood Encephalopathies: Review of a Prospective Research Programme.

Author

Minns, Robert A., Jones, Patricia A., Fleck, Brian W., and Mulvihill, Alan O.

Subjects
HEAD injury complications, INTENSIVE care units, STATISTICS, SCIENTIFIC observation, CHILD abuse, EYE hemorrhage, PATIENTS, CEREBRAL anoxia-ischemia, PEDIATRICS, MANN Whitney U Test, HOSPITAL admission & discharge, INTRACRANIAL pressure, DOCUMENTATION, T-test (Statistics), SYMPTOMS, KAPLAN-Meier estimator, DATA analysis software, DATA analysis, LOGISTIC regression analysis, LONGITUDINAL method, CHILDREN
Abstract

One important cause of retinal haemorrhages (RHs) in children is abusive head trauma (AHT). Our programme of research was conducted on children admitted to hospital over a seven‐year period who had RHs as part of their clinical presentation. This paper summarises important findings from previous publications. As a prerequisite, two basic studies were necessary: (i) a method of reporting the precise location of the RH in the retina; and (ii) defining a simple clinical classification of RHs based on the appearance of the retinal layer involved. Because raised intracranial pressure (RICP) is a frequent secondary brain insult following serious adult head injury, causing hypoxic‐ischaemic injury with a resultant poor outcome, it was considered whether such RICP might also cause RHs in children. Detailed, state‐of‐the‐art monitoring methods were used to investigate this relationship along with retinal imaging. Methodical documentation of the type, area and lifespan of RHs meant that it was possible to address the question of predicting AHT from RH numbers and characteristics, and to describe not only the duration of different layer haemorrhages, but also a previously unreported observation that some RHs transiently enlarge over two to three days before resolving normally. 'One important cause of retinal haemorrhages (RHs) in children is abusive head trauma' Key Practitioner Messages: A new retinal zone classification for research and legal purposes has been developed, as well as a simplified five‐point working classification of RHs, based on existing fundoscopic descriptions.In this cohort study, a young age and a high 'dot‐blot' count (>25 intraretinal haemorrhages) are strong predictors of AHT.There is a complex association between the burden of intracranial pressure insult and RHs.Time to resolution of different RHs has been calculated using two‐dimensional RH area pixel counts from sequential retinal imaging. Two patterns of resolution are reported. [ABSTRACT FROM AUTHOR]

Published
2022
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27. Detection and characterisation of visual field defects using Saccadic Vector Optokinetic Perimetry in children with brain tumours

Author

Murray, Ian C, Schmoll, Conrad, Perperidis, Antonios, Brash, Harry M, McTrusty, Alice D, Cameron, Lorraine A, Wilkinson, Alastair G, Mulvihill, Alan O, Fleck, Brian W, and Minns, Robert A

Subjects
Male, Adolescent, genetic structures, Brain Neoplasms, Vision Disorders, Sensitivity and Specificity, Article, Child, Preschool, Saccades, Journal Article, Humans, Visual Field Tests, Female, Visual Fields, Child
Abstract

PURPOSE: To determine the ability of Saccadic Vector Optokinetic Perimetry (SVOP) to detect and characterise visual field defects in children with brain tumours using eye-tracking technology, as current techniques for assessment of visual fields in young children can be subjective and lack useful detail.METHODS: Case-series study of children receiving treatment and follow-up for brain tumours at the Royal Hospital for Sick Children in Edinburgh from April 2008 to August 2013. Patients underwent SVOP testing and the results were compared with clinically expected visual field patterns determined by a consensus panel after review of clinical findings, neuroimaging, and where possible other forms of visual field assessment.RESULTS: Sixteen patients participated in this study (mean age of 7.2 years; range 2.9-15 years; 7 male, 9 female). Twelve children (75%) successfully performed SVOP testing. SVOP had a sensitivity of 100% and a specificity of 50% (positive predictive value of 80% and negative predictive value of 100%). In the true positive and true negative SVOP results, the characteristics of the SVOP plots showed agreement with the expected visual field. Six patients were able to perform both SVOP and Goldmann perimetry, these demonstrated similar visual fields in every case.CONCLUSION: SVOP is a highly sensitive test that may prove to be extremely useful for assessing the visual field in young children with brain tumours, as it is able to characterise the central 30° of visual field in greater detail than previously possible with older techniques.

Published
2018

28. Rhegmatogenous retinal detachment in Scotland: research design and methodology

Author

Fleck Brian W, Yorston David, Charteris David G, Mitry Danny, Wright Alan, Campbell Harry, and Singh Jaswinder

Subjects
Ophthalmology, RE1-994
Abstract

Abstract Background Rhegmatogenous retinal detachment (RRD) is a potentially blinding condition and a common cause of ocular morbidity. Establishing an accurate estimate of disease incidence and distribution is an important first step in assessing the healthcare burden related to this condition and in subsequent planning and provision of treatment strategies. The aim of this study is to obtain a first estimate incidence of RRD in Scotland, to estimate the incidence of familial RRD and to describe the known associations of RRD within the study population. Methods/Design We have established a national prospective observational study seeking to identify and recruit all incident cases of RRD in the Scottish population over a 2 year period. After fully informed consent, all participants will have a blood sample taken and a full medical history and clinical examination performed including visual acuity, refraction, slit-lamp examination, intra-ocular pressure measurement and detailed fundal examination. We describe the study design and protocol. Conclusion This study will provide the first estimate of the annual incidence of RRD in Scotland. The findings of this study will be important in estimating the burden of disease and in the planning of future health care policy related to this condition. This study will also establish a genetic resource for a genome wide association study to investigate if certain genetic variants predispose to RRD.

Published
2009
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30. Genetic Analysis of 'PAX6-Negative' Individuals with Aniridia or Gillespie Syndrome

Author

Ansari, Morad, Rainger, Jacqueline, Hanson, Isabel M, Williamson, Kathleen A, Sharkey, Freddie, Harewood, Louise, Sandilands, Angela, Clayton-Smith, Jill, Dollfus, Helene, Bitoun, Pierre, Meire, Francoise, Fantes, Judy, Franco, Brunella, Lorenz, Birgit, Taylor, David S, Stewart, Fiona, Willoughby, Colin E, McEntagart, Meriel, Khaw, Peng Tee, Clericuzio, Carol, Van Maldergem, Lionel, Williams, Denise, Newbury-Ecob, Ruth, Traboulsi, Elias I, Silva, Eduardo D, Madlom, Mukhlis M, Goudie, David R, Fleck, Brian W, Wieczorek, Dagmar, Kohlhase, Juergen, McTrusty, Alice D, Gardiner, Carol, Yale, Christopher, Moore, Anthony T, Russell-Eggitt, Isabelle, Islam, Lily, Lees, Melissa, Beales, Philip L, Tuft, Stephen J, Solano, Juan B, Splitt, Miranda, Hertz, Jens Michael, Prescott, Trine E, Shears, Deborah J, Nischal, Ken K, Doco-Fenzy, Martine, Prieur, Fabienne, Temple, I Karen, Lachlan, Katherine L, Damante, Giuseppe, Morrison, Danny A, van Heyningen, Veronica, FitzPatrick, David R, Ansari, Morad, Rainger, Jacqueline, Hanson, Isabel M., Williamson, Kathleen A., Sharkey, Freddie, Harewood, Louise, Sandilands, Angela, Clayton Smith, Jill, Dollfus, Helene, Bitoun, Pierre, Meire, Francoise, Fantes, Judy, Franco, Brunella, Lorenz, Birgit, Taylor, David S., Stewart, Fiona, Willoughby, Colin E., Mcentagart, Meriel, Khaw, Peng Tee, Clericuzio, Carol, Van Maldergem, Lionel, Williams, Denise, Newbury Ecob, Ruth, Traboulsi, Elias I., Silva, Eduardo D., Madlom, Mukhlis M., Goudie, David R., Fleck, Brian W., Wieczorek, Dagmar, Kohlhase, Juergen, Mctrusty, Alice D., Gardiner, Carol, Yale, Christopher, Moore, Anthony T., Russell Eggitt, Isabelle, Islam, Lily, Lees, Melissa, Beales, Philip L., Tuft, Stephen J., Solano, Juan B., Splitt, Miranda, Hertz, Jens Michael, Prescott, Trine E., Shears, Deborah J., Nischal, Ken K., Doco Fenzy, Martine, Prieur, Fabienne, Temple, I. Karen, Lachlan, Katherine L., Damante, Giuseppe, Morrison, Danny A., Van Heyningen, Veronica, and Fitzpatrick, David R.

Subjects
Male, Genetics and Molecular Biology (all), Eye Diseases, PAX6 Transcription Factor, Mutagenesis and Gene Deletion Techniques, Gene Identification and Analysis, Iris, lcsh:Medicine, Artificial Gene Amplification and Extension, Polymerase Chain Reaction, Biochemistry, axenfeld-rieger syndrome gtpase-activating protein linear skin defects cerebellar-ataxia mental-retardation pax6 gene missense mutations impaired accommodation pitx2 mutations phenotype Science & Technology - Other Topics, Medicine and Health Sciences, Pair 11, lcsh:Science, Aniridia, Comparative Genomic Hybridization, Medicine (all), GTPase-Activating Proteins, Forkhead Transcription Factors, Genomics, Deletion Mutation, Female, Anatomy, Research Article, Human, congenital, hereditary, and neonatal diseases and abnormalities, Cerebellar Ataxia, Ocular Anatomy, Research and Analysis Methods, Human Genomics, Chromosomes, Histone Deacetylases, Ocular System, Intellectual Disability, Genetics, Humans, Genetic Testing, Molecular Biology Techniques, Molecular Biology, Mutation Detection, Homeodomain Proteins, Chromosomes, Human, X, Biochemistry, Genetics and Molecular Biology (all), Chromosomes, Human, Pair 11, lcsh:R, Biology and Life Sciences, Glaucoma, Mutation, Transcription Factors, Agricultural and Biological Sciences (all), eye diseases, Ophthalmology, Mutational Analysis, Genetic Loci, lcsh:Q, sense organs
Abstract

We report molecular genetic analysis of 42 affected individuals referred with a diagnosis of aniridia who previously screened as negative for intragenic PAX6 mutations. Of these 42, the diagnoses were 31 individuals with aniridia and 11 individuals referred with a diagnosis of Gillespie syndrome (iris hypoplasia, ataxia and mild to moderate developmental delay). Array-based comparative genomic hybridization identified six whole gene deletions: four encompassing PAX6 and two encompassing FOXC1. Six deletions with plausible cis-regulatory effects were identified: five that were 3′ (telomeric) to PAX6 and one within a gene desert 5′ (telomeric) to PITX2. Sequence analysis of the FOXC1 and PITX2 coding regions identified two plausibly pathogenic de novo FOXC1 missense mutations (p.Pro79Thr and p. Leu101Pro). No intragenic mutations were detected in PITX2. FISH mapping in an individual with Gillespie-like syndrome with an apparently balanced X;11 reciprocal translocation revealed disruption of a gene at each breakpoint: ARHGAP6 on the X chromosome and PHF21A on chromosome 11. In the other individuals with Gillespie syndrome no mutations were identified in either of these genes, or in HCCS which lies close to the Xp breakpoint. Disruption of PHF21A has previously been implicated in the causation of intellectual disability (but not aniridia). Plausibly causative mutations were identified in 15 out of 42 individuals (12/32 aniridia; 3/11 Gillespie syndrome). Fourteen of these mutations presented in the known aniridia genes; PAX6, FOXC1 and PITX2. The large number of individuals in the cohort with no mutation identified suggests greater locus heterogeneity may exist in both isolated and syndromic aniridia than was previously appreciated.

Published
2016

33. Feasibility, Accuracy, and Repeatability of Suprathreshold Saccadic Vector Optokinetic Perimetry

Author

Murray, Ian C., Cameron, Lorraine A., McTrusty, Alice D., Perperidis, Antonios, Brash, Harry M., Fleck, Brian W., and Minns, Robert A.

Subjects
perimetry, SVOP, saccadic eye movements, visual fields, Articles
Abstract

Purpose To evaluate feasibility, accuracy, and repeatability of suprathreshold Saccadic Vector Optokinetic Perimetry (SVOP) by comparison with Humphrey Field Analyzer (HFA) perimetry. Methods The subjects included children with suspected field defects (n = 10, age 5–15 years), adults with field defects (n = 33, age 39–78 years), healthy children (n = 12, age 6–14 years), and healthy adults (n = 30, age 16–61 years). The test protocol comprised repeat suprathreshold SVOP and HFA testing with the C-40 test pattern. Feasibility was assessed by protocol completeness. Sensitivity, specificity, and accuracy of SVOP was established by comparison with reliable HFA tests in two ways: (1) visual field pattern results (normal/abnormal), and (2) individual test point outcomes (seen/unseen). Repeatability of each test type was assessed using Cohen's kappa coefficient. Results Of subjects, 82% completed a full protocol. Poor reliability of HFA testing in child patients limited the robustness of comparisons in this group. Sensitivity, specificity, and accuracy across all groups when analyzing the visual field pattern results was 90.9%, 88.5%, and 89.0%, respectively, and was 69.1%, 96.9%, and 95.0%, respectively, when analyzing the individual test points. Cohen's kappa coefficient for repeatability of SVOP and HFA was excellent (0.87 and 0.88, respectively) when assessing visual field pattern results, and substantial (0.62 and 0.74, respectively) when assessing test point outcomes. Conclusions SVOP was accurate in this group of adults. Further studies are required to assess SVOP in child patient groups. Translational Relevance SVOP technology is still in its infancy but is used in a number of centers. It will undergo iterative improvements and this study provides a benchmark for future iterations.

Published
2016

34. Case of penetrating orbitocranial injury caused by wood

Author

Mutlukan, Erkan, Fleck, Brian W., Cullen, James F., and Whittle, Ian R.

Subjects
Wood -- Identification and classification, Wounds and injuries -- Case studies, Brain, Skull -- Injuries, Eye-sockets -- Injuries, Health
Abstract

An apparently trivial injury of the eyelid may be associated with injury in the orbit (bony cavity containing the eye) and possibly penetrating injury to the brain. A case is presented of a 41-year-old man who fell from a fence into some wooden foliage. Two small wood splinters were removed from his lower right eyelid. Additionally he suffered cuts on his skin and conjunctiva (mucous membrane lining the eyelids and anterior surface of the eyeball), and had downward displacement of the eyeball, with limited eye movements. His cuts were stitched up and he was admitted to the eye unit of the hospital. Six hours later he developed a fever and his consciousness deteriorated. A hematoma (blood blister) of the outer covering of the brain was suspected. Computed tomographic scan revealed bleeding within the brain. A hole made in the skull revealed bruised brain cortex with hemorrhage. The man improved with antibiotic treatment, but then vision in his right eye deteriorated. Emergency surgery was performed, which revealed an abscess cavity containing wood fragments within the right frontal lobe of the brain, as well as in portions of the orbit. At most recent follow-up that patient had full eye movements but no vision in the right eye; there were no other neurological problems. In this case failure to recognize the extent of the injury resulted in abscess formation within the brain and blindness in one eye. Brain penetration by wood is unusual. Wood is not detected by X-ray, and is difficult to identify on computed tomography. Recently magnetic resonance imaging has been reported helpful in identifying intraorbital wood. (Consumer Summary produced by Reliance Medical Information, Inc.)

Published
1991

35. Comparison of Threshold Saccadic Vector Optokinetic Perimetry (SVOP) and Standard Automated Perimetry (SAP) in Glaucoma. Part II: Patterns of Visual Field Loss and Acceptability

Author

McTrusty, Alice D., primary, Cameron, Lorraine A., additional, Perperidis, Antonios, additional, Brash, Harry M., additional, Tatham, Andrew J., additional, Agarwal, Pankaj K., additional, Murray, Ian C., additional, Fleck, Brian W., additional, and Minns, Robert A., additional

Published
2017
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44. Reply

Author

Mitry, Danny, primary, Fleck, Brian W., additional, Wright, Alan, additional, Campbell, Harry, additional, and Charteris, David, additional

Published
2012
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