Martin McKibbin

Leeds Teaching Hospitals NHS Trust, Leeds, England, United Kingdom

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Publications (63)358.48 Total impact

  • Luke Thomas Sansom · Carlo A Suter · Martin McKibbin
    Acta ophthalmologica 07/2015; DOI:10.1111/aos.12794 · 2.84 Impact Factor
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    ABSTRACT: Defects in primary cilium biogenesis underlie the ciliopathies, a growing group of genetic disorders. We describe a whole-genome siRNA-based reverse genetics screen for defects in biogenesis and/or maintenance of the primary cilium, obtaining a global resource. We identify 112 candidate ciliogenesis and ciliopathy genes, including 44 components of the ubiquitin-proteasome system, 12 G-protein-coupled receptors, and 3 pre-mRNA processing factors (PRPF6, PRPF8 and PRPF31) mutated in autosomal dominant retinitis pigmentosa. The PRPFs localize to the connecting cilium, and PRPF8- and PRPF31-mutated cells have ciliary defects. Combining the screen with exome sequencing data identified recessive mutations in PIBF1, also known as CEP90, and C21orf2, also known as LRRC76, as causes of the ciliopathies Joubert and Jeune syndromes. Biochemical approaches place C21orf2 within key ciliopathy-associated protein modules, offering an explanation for the skeletal and retinal involvement observed in individuals with C21orf2 variants. Our global, unbiased approaches provide insights into ciliogenesis complexity and identify roles for unanticipated pathways in human genetic disease.
    Nature Cell Biology 07/2015; 17(8). DOI:10.1038/ncb3201 · 19.68 Impact Factor
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    ABSTRACT: This paper provides expert recommendations on administration of aflibercept in wet age-related macular degeneration (AMD) after Year 1 (Y1), based on a roundtable discussion held in London, UK in November 2014. The goals of treatment after Y1 are to maintain visual and anatomical gains whilst minimising treatment burden and using resources effectively. The treatment decision should be made at the seventh injection visit (assuming the label has been followed) in Y1, and three approaches are proposed: (a) eyes with active disease on imaging/examination but with stable visual acuity (VA) at the end of Y1 should continue with fixed 8-weekly dosing; (b) eyes with inactive disease on imaging/examination and stable VA should be managed using a 'treat and extend' (T&E) regimen. T&E involves treating and then extending the interval until the next treatment, by 2-week intervals, to a maximum of 12 weeks, provided the disease remains inactive. If there is new evidence of disease activity, treatment is administered and the interval to the next treatment shortened; and (c) if there has been no disease activity for ≥3 consecutive visits, a trial of monitoring without treatment may be appropriate, initiated at the end of Y1 or at any time during Y2. Where possible, VA testing, OCT imaging and injection should be performed at the same visit. The second eye should be monitored to detect fellow eye involvement. In bilateral disease, the re-treatment interval should be driven by the better-seeing eye or, if the VA is similar, the eye with the more active disease.
    Eye (London, England) 07/2015; 29 Suppl 1:S1-S11. DOI:10.1038/eye.2015.77 · 2.08 Impact Factor
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    ABSTRACT: To explore factors that influence decision-making in relation to prenatal diagnostic testing (PDT) for inherited retinal disease (IRD). Semi-structured interviews were conducted with 50 adults with IRD, selected from a larger sample to provide a diversity of backgrounds and opinions on genetic testing. Interviews were transcribed verbatim and analysed using thematic analysis. Mostly participants supported PDT, believing that it would provide information to help them prepare for and plan the future care of the child and the potential for early access to emerging therapies. Opposition to PDT stemmed from its use to justify termination of pregnancy, with participants feeling that it was not justified as they retained a good quality of life despite their visual impairment. Participants raised concerns about the risk of PDT and the accuracy of the results. However, most suggested that it should be available as an option for others, but for specific reasons and not as a part of routine care. The variation in attitudes towards PDT and uncertainty about the risk and accuracy of results suggest that individuals at risk of having a child with IRD should have access to genetic counselling to support decision making. This article is protected by copyright. All rights reserved.
    Prenatal Diagnosis 06/2015; 35(9). DOI:10.1002/pd.4644 · 3.27 Impact Factor
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    ABSTRACT: Retinal dystrophies are an overlapping group of genetically heterogeneous conditions resulting from mutations in more than 250 genes. Here we describe five families affected by an adult-onset retinal dystrophy with early macular involvement and associated central visual loss in the third or fourth decade of life. Affected individuals were found to harbor disease-causing variants in DRAM2 (DNA-damage regulated autophagy modulator protein 2). Homozygosity mapping and exome sequencing in a large, consanguineous British family of Pakistani origin revealed a homozygous frameshift variant (c.140delG [p.Gly47Valfs(∗)3]) in nine affected family members. Sanger sequencing of DRAM2 in 322 unrelated probands with retinal dystrophy revealed one European subject with compound heterozygous DRAM2 changes (c.494G>A [p.Trp165(∗)] and c.131G>A [p.Ser44Asn]). Inspection of previously generated exome sequencing data in unsolved retinal dystrophy cases identified a homozygous variant in an individual of Indian origin (c.64_66del [p.Ala22del]). Independently, a gene-based case-control association study was conducted via an exome sequencing dataset of 18 phenotypically similar case subjects and 1,917 control subjects. Using a recessive model and a binomial test for rare, presumed biallelic, variants, we found DRAM2 to be the most statistically enriched gene; one subject was a homozygote (c.362A>T [p.His121Leu]) and another a compound heterozygote (c.79T>C [p.Tyr27His] and c.217_225del [p.Val73_Tyr75del]). DRAM2 encodes a transmembrane lysosomal protein thought to play a role in the initiation of autophagy. Immunohistochemical analysis showed DRAM2 localization to photoreceptor inner segments and to the apical surface of retinal pigment epithelial cells where it might be involved in the process of photoreceptor renewal and recycling to preserve visual function. Copyright © 2015 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.
    The American Journal of Human Genetics 05/2015; 96(6). DOI:10.1016/j.ajhg.2015.04.006 · 10.93 Impact Factor
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    ABSTRACT: Purpose: To identify the genetic basis of macular dystrophy in three affected siblings of a non-consanguineous Caucasian family living in the UK. Methods: Whole-exome sequencing (WES) was performed using SureSelectXT Human V4 target enrichment reagent followed by paired-end sequencing on a HiSeq2500.The data files were processed on the Galaxy platform, aligned to the human reference genome (hg19/GRCh37) and the reported variants annotated using Annovar. Variants were excluded if they were outside the exon and flanking splice recognition sites, were synonymous or had a minor allele frequency >1% in the exome variant server database. Variants were confirmed by PCR and Sanger sequencing. Results: Genomic DNA from an affected family member was analysed by WES and the list filtered for prioritization of variants that are in the known RetNet genes. We identified 5 heterozygous and 1 homozygous variant though none segregated with the disease phenotype in the family. WES analysis of a second affected siblingand comparison of the full lists for common variantsidentified 15 homozygous and 4 genes with compound heterozygous variants. It was noted that mutations in one of these candidates MFSD8 (major facilitator superfamily domain-containing protein 8) had recently been reported in 2 families to cause nonsyndromic recessive macular dystrophy (Roosing et al., Ophthalmology, 2014). Sanger sequencing of the MFSD8 variants, c.1006G>C, p.E336Q and c.1394G>A, p.R465Q, in the UK family confirmed that all the affected members were indeed compound heterozygous for the mutations. These results are surprising since all publications to date on mutations in this gene except the one above showed that recessive MFSD8 mutations cause a severe multisystem lysosomal storage disorder, neuronal ceroidlipofuscinosis. Conclusions: This is the second study and only the third family describing biallelic MFSD8 mutations causing a nonsyndromic eye phenotype, and independently confirms the findings of the recent report.It is worth highlighting that one of these mutations, p.E336Q, exists in a heterozygous state in all three families and may act as a modifier of disease symptoms resulting in the less severe phenotype. Commercial Relationships: Mohammed E. Elasrag, None; Martin McKibbin, None; James Poulter, None; Chris Inglehearn, None; Carmel Toomes, None; Manir Ali, None Support: This research was supported by Egyptian government scholarship for Mr Mohammed Elasrag
    The Annual Meeting of the Association for Research in Vision and Ophthalmology (ARVO), Denver, Colorado, U.S.A; 05/2015
  • Martin A McKibbin · Carlo A Suter · Tom A Willis
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    ABSTRACT: To evaluate the influence of vitreomacular attachment on outcomes after intravitreal aflibercept for neovascular age-related macular degeneration. In a prospective case series, eyes with neovascular age-related macular degeneration were treated with intravitreal aflibercept, given as 3 consecutive monthly injections, followed by further injection every 2 months. Spectral domain optical coherence tomography images were reviewed at each visit to determine the attachment of the posterior hyaloid. Best-corrected visual acuity and retinal thickness were also recorded. Outcomes at Months 2 and 6 were compared between the eyes with persistent vitreomacular attachment (Stage 1) and those with posterior vitreous detachment (Stages 2 or 3 PVD) at baseline. At baseline, 30 eyes had Stage 1 PVD and 63 eyes had either Stage 2 or 3 PVD. Although there was a trend for both greater visual acuity gains and reductions in retinal thickness for the eyes with Stages 2 or 3 PVD, this failed to reach significance. Baseline visual acuity and age were negatively associated with visual acuity change, and baseline retinal thickness alone was associated with retinal thickness change. Visual acuity, retinal thickness, and age at the baseline examination, but not PVD status, are associated with functional and anatomical outcomes after intravitreal aflibercept for neovascular age-related macular degeneration.
    Retina (Philadelphia, Pa.) 04/2015; Publish Ahead of Print. DOI:10.1097/IAE.0000000000000587 · 3.24 Impact Factor
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    ABSTRACT: Age-related macular degeneration (AMD) and Alzheimer’s disease (AD) are degenerative, multifactorial diseases involving age-related accumulation of extracellular deposits linked to dysregulation of protein homeostasis. Here, we strengthen the evidence that an nsSNP (p.Ala25Thr) in the cysteine proteinase inhibitor cystatin C gene CST3, previously confirmed by meta-analysis to be associated with AD, is associated with exudative AMD. To our knowledge, this is the first report highlighting a genetic variant that increases the risk of developing both AD and AMD. Furthermore, we demonstrate that the risk associated with the mutant allele follows a recessive model for both diseases. We perform an AMD-CST3 case–control study genotyping 350 exudative AMD Caucasian individuals. Bringing together our data with the previously reported AMD-CST3 association study, the evidence of a recessive effect on AMD risk is strengthened (OR = 1.89, P = 0.005). This effect closely resembles the AD-CST3 recessive effect (OR = 1.73, P = 0.005) previously established by meta-analysis. This resemblance is substantiated by the high correlation between CST3 genotype and effect size across the two diseases (R2 = 0.978). A recessive effect is in line with the known function of cystatin C, a potent enzyme inhibitor. Its potency means that, in heterozygous individuals, a single functional allele is sufficient to maintain its inhibitory function; only homozygous individuals will lack this form of proteolytic regulation. Our findings support the hypothesis that recessively acting variants account for some of the missing heritability of multifactorial diseases. Replacement therapy represents a translational opportunity for individuals homozygous for the mutant allele. Electronic supplementary material The online version of this article (doi:10.1007/s00439-015-1552-7) contains supplementary material, which is available to authorized users.
    Human Genetics 04/2015; 134(7). DOI:10.1007/s00439-015-1552-7 · 4.82 Impact Factor
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    ABSTRACT: Purpose: To investigate the molecular basis of retinitis pigmentosa in two consanguineous families of Pakistani origin with multiple affected members. Methods: Homozygosity mapping and Sanger sequencing of candidate genes were performed in one family while the other was analyzed with whole exome next-generation sequencing. A minigene splicing assay was used to confirm the splicing defects. Results: In family MA48, a novel homozygous nucleotide substitution in C8orf37, c.244–2A>C, that disrupted the consensus splice acceptor site of exon 3 was found. The minigene splicing assay revealed that this mutation activated a cryptic splice site within exon 3, causing a 22 bp deletion in the transcript that is predicted to lead to a frameshift followed by premature protein truncation. In family MA13, a novel homozygous null mutation in C8orf37, c.555G>A, p.W185*, was identified. Both mutations segregated with the disease phenotype as expected in a recessive manner and were absent in 8,244 unrelated individuals of South Asian origin. Conclusions: In this report, we describe C8orf37 mutations that cause retinal dystrophy in two families of Pakistani origin, contributing further data on the phenotype and the spectrum of mutations in this form of retinitis pigmentosa.
    Molecular vision 03/2015; 21:236-243. · 1.99 Impact Factor
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    ABSTRACT: To study the effectiveness and clinical relevance of eyes treated with good (better than 6/12 or >70 Early Treatment Diabetic Retinopathy Study letters) visual acuity (VA) when initiating treatment with ranibizumab for neovascular age-related macular degeneration (nAMD) in the UK National Health Service. Currently eyes with VA better than (>) 6/12 are not routinely funded for therapy. Multicentre national nAMD database study on patients treated 3-5 years prior to the analysis. Anonymised structured data were collected from 14 centres. The primary outcome was the mean VA at year 1, 2 and 3. Secondary measures included the number of clinic visits and injections. The study included 12 951 treatment-naive eyes of 11 135 patients receiving 92 976 ranibizumab treatment episodes. A total of 754 patients had baseline VA better than 6/12 and at least 1-year of follow up. Mean VA of first treated eyes with baseline VA>6/12 at year 1, 2, 3 were 6/10, 6/12, 6/15, respectively and those with baseline VA 6/12 to >6/24 were 6/15, 6/17, 6/20, respectively (p values <0.001 for comparing differences between 6/12 and 6/12-6/24 groups). For the second eyes with baseline VA>6/12, mean VA at year 1, 2, 3 were 6/9, 6/9, 6/10 and those with baseline VA 6/12 to >6/24 were 6/15, 6/15, 6/27, respectively (p values <0.001-0.005). There was no significant difference in the average number of clinic visits or injections between those with VA better and worse than 6/12. All eyes with baseline VA>6/12 maintained better mean VA than the eyes with baseline VA 6/12 to >6/24 at all time points for at least 2 years. The significantly better visual outcome in patients who were treated with good baseline VA has implications on future policy regarding the treatment criteria for nAMD patients' funding. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to
    British Journal of Ophthalmology 02/2015; 99(8). DOI:10.1136/bjophthalmol-2014-306229 · 2.98 Impact Factor
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    ABSTRACT: A large number of genes can cause inherited retinal degenerations when mutated. It is important to identify the cause of disease for a better disease prognosis and a possible gene-specific therapeutic intervention. To identify the cause of disease in families with nonsyndromic retinitis pigmentosa. Patients and family members were recruited for the study and underwent clinical evaluation and genetic analyses. Identification of sequence variants in genes using next-generation sequencing. We performed exome sequencing for 4 families, which was followed by Sanger sequencing of the identified mutations in 120 ethnicity-matched patients. In total, we identified 4 BBS2 missense mutations that cause nonsyndromic retinitis pigmentosa. Three siblings of Moroccan Jewish ancestry were compound heterozygotes for p.A33D and p.P134R, and 6 patients belonging to 4 families of Ashkenazi Jewish ancestry were homozygous for either p.D104A or p.R632P, or compound heterozygous for these 2 mutations. The mutations cosegregated with retinitis pigmentosa in the studied families, and the affected amino acid residues are evolutionarily conserved. Our study shows that BBS2 mutations can cause nonsyndromic retinitis pigmentosa and highlights yet another candidate for this genetically heterogeneous condition.
    Jama Ophthalmology 12/2014; 133(3). DOI:10.1001/jamaophthalmol.2014.5251 · 3.32 Impact Factor
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    ABSTRACT: Purpose: To report the reproducibility, sensitivity, specificity, and predictive value of home monitoring for disease activity in neovascular age-related macular degeneration (ARMD). Methods: Participants were trained to complete three separate home monitoring tasks, designed to identify subtle changes in visual function that may indicate increasing neovascular ARMD disease activity. These included measurement of near acuity and assessments of environmental distortion and overall visual function. The need for repeat intra-vitreal injection, as predicted by home monitoring, was compared to standard clinical assessment involving ETDRS distance acuity, slit lamp examination, and spectral domain ocular coherence tomography. Results: Although all participants were able to complete the home monitoring tasks, the reproducibility of each of the three tasks was modest. Cohen's kappa was 0.118 (p = 0.54) for the comparison of the outcome of the home monitoring exercise with the gold standard of hospital assessment to determine disease activity. The sensitivity of the home monitoring exercise was 33.3 % (95 % CI 15.2-51.4) and the specificity was 77.8 % (95 % CI 61.8-93.8). Conclusions: This study suggests that current tests of visual function, which are readily completed at home, cannot replace traditional clinic-based assessments for neovascular ARMD disease activity. Instead, such tests are likely to remain complementary to standard assessment in clinic.
    Albrecht von Graæes Archiv für Ophthalmologie 11/2014; 253(9). DOI:10.1007/s00417-014-2839-4 · 1.91 Impact Factor
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    ABSTRACT: Purpose To study the characteristics of second treated eyes in patients with neovascular age-related macular degeneration (nAMD) treated with ranibizumab in the United Kingdom National Health Service. Design Multicenter national nAMD database study. Participants Twelve thousand nine hundred fifty-one treatment-naïve eyes of 11 135 patients receiving 92 976 ranibizumab injections. Methods Up to 5 years of routinely collected, anonymized data within electronic medical record systems were extracted remotely from 14 centers. Participating centers exclusively used ranibizumab to treat nAMD (loading phase of 3 monthly injections followed by monthly visits and pro re nata re-treatment). The minimum data set included: age, logarithm of the minimum angle of resolution (logMAR) visual acuity (VA) at baseline and at all subsequent visits, and injection episodes. Main Outcome Measures Baseline, change and actual VA over 3 years, and number of treatments and clinic visits. Results During the study, 1816 (16.3%) of the 11 135 patients received treatment to the fellow eye. Mean baseline and final VA were 0.66 (standard deviation, 0.32) and 0.65 (0.40) for first treated eyes and 0.41 (0.34) and 0.56 (0.40) for second treated eyes. The rate of VA loss after the loading phase was similar in first and second treated eyes (0.03 and 0.05 logMAR units/year). When fellow eyes with baseline VA worse than 20/200 were excluded to restrict analyses to eyes at risk of nAMD, the rate of second-eye involvement was 14.0% per year (42%/3 years). Mean number of injections/visits in years 1, 2, and 3 were similar for first and second treated eyes (5.6/8.2, 3.9/8.0, 3.8/8.2 and 5.5/8.7, 3.6/9.4, and 3.8/9.1, respectively). Conclusions Second treated eyes with nAMD commence treatment with better baseline VA, do not show significant vision gain but maintain better VA than first treated eyes at all time points for at least 3 years, making them the more important eye functionally. These data highlight the high burden of second eye involvement, with almost half of all eyes at risk requiring bilateral treatment by 3 years, and the need for regular monitoring of fellow eyes for best visual outcomes which theoretically may reduce the benefits of extended monitoring regimens.
    Ophthalmology 10/2014; 121(10). DOI:10.1016/j.ophtha.2014.04.026 · 6.14 Impact Factor
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    ABSTRACT: Purpose Retinal dystrophies are genetically heterogeneous, resulting from mutations in over 200 genes. Prior to the development of massively parallel sequencing, comprehensive genetic screening was unobtainable for most patients. Identifying the causative genetic mutation facilitates genetic counselling, carrier testing and prenatal/pre-implantation diagnosis, and often leads to a clearer prognosis. In addition, in a proportion of cases, when the mutation is known treatment can be optimised and patients are eligible for enrolment into clinical trials for gene-specific therapies. Methods Patient genomic DNA was sheared, tagged and pooled in batches of four samples, prior to targeted capture and next generation sequencing. The enrichment reagent was designed against genes listed on the RetNet database (July 2010). Sequence data were aligned to the human genome and variants were filtered to identify potential pathogenic mutations. These were confirmed by Sanger sequencing. Results Molecular analysis of 20 DNAs from retinal dystrophy patients identified likely pathogenic mutations in 12 cases, many of them known and/or confirmed by segregation. These included previously described mutations in ABCA4 (c.6088C>T,p.R2030*; c.5882G>A,p.G1961E), BBS2 (c.1895G>C,p.R632P), GUCY2D (c.2512C>T,p.R838C), PROM1 (c.1117C>T,p.R373C), RDH12 (c.601T>C,p.C201R; c.506G>A,p.R169Q), RPGRIP1 (c.3565C>T,p.R1189*) and SPATA7 (c.253C>T,p.R85*) and new mutations in ABCA4 (c.3328+1G>C), CRB1 (c.2832_2842+23del), RP2 (c.884-1G>T) and USH2A (c.12874A>G,p.N4292D). Conclusions Tagging and pooling DNA prior to targeted capture of known retinal dystrophy genes identified mutations in 60% of cases. This relatively high success rate may reflect enrichment for consanguineous cases in the local Yorkshire population, and the use of multiplex families. Nevertheless this is a promising high throughput approach to retinal dystrophy diagnostics.
    PLoS ONE 08/2014; 9(8):e104281. DOI:10.1371/journal.pone.0104281 · 3.23 Impact Factor
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    ABSTRACT: This paper investigates the willingness of adults with inherited retinal disease to undergo and pay for diagnostic genetic testing in three hypothetical scenarios and to explore the factors that influence decision making. Fifty patients were presented with three scenarios whereby genetic testing provided increasing information: confirming the diagnosis and inheritance pattern alone, providing additional information on future visual function, and identifying in addition a new treatment which could stabilise their condition. Willingness to pay (WTP) was elicited using an iterative bidding game. Regression analysis was used to investigate the probability of agreeing to and paying for testing. Qualitative data were also reviewed to provide a comprehensive understanding of WTP and decision making. The majority of participants agreed to undergo genetic testing in each of the three scenarios. Scenario 2 was the least acceptable with 78% of participants agreeing to genetic testing. The probability of agreeing to genetic testing decreased with age. Between 72 and 96% of participants reported a WTP for genetic testing. Average WTP was £539, £1516, and £6895 for scenarios 1, 2, and 3 respectively. Older participants and participants with higher incomes were willing to pay more for testing. Qualitative data provided additional detail about the rationale behind participants' decisions. The study suggests that patients with inherited retinal disease were willing to undergo and to pay for diagnostic genetic testing, suggesting that they valued the information it may provide. However, several patients preferred not to receive prognostic information and were less willing to pay for genetic testing that yielded such detail.European Journal of Human Genetics advance online publication, 11 June 2014; doi:10.1038/ejhg.2014.111.
    European journal of human genetics: EJHG 06/2014; 23(3). DOI:10.1038/ejhg.2014.111 · 4.35 Impact Factor
  • L Sullivan · S P Kelly · A Glenn · C P R Williams · M McKibbin
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    ABSTRACT: PurposeThe use of intravitreal vascular endothelial growth factor (VEGF) inhibitor medications has widened considerably to include indications affecting females of reproductive age.Patients and methodsWe present our experiences following intravitreal injection of bevacizumab during the first trimester of unrecognised pregnancies in four women.ResultsAll our patients were inadvertently exposed to bevacizumab within the first trimester when placental growth and fetal organogenesis take place. There were three cases of pregnancy without complication and one case of complicated pregnancy in which there was a significant past obstetric history.Conclusion This case series provides further insights into intravitreal injection of bevacizumab in early pregnancy. There is insufficient information to suggest that such use is safe, nor is there definitive evidence to suggest that it causes harm. We advise that ophthalmologists discuss pregnancy with women of childbearing age undergoing intraocular anti-VEGF injections. Should a woman become pregnant, counselling is needed to explain the potential risks and benefits, and the limited available data relating to the use of these agents in early pregnancy.Eye advance online publication, 17 January 2014; doi:10.1038/eye.2013.311.
    Eye (London, England) 01/2014; 28(4). DOI:10.1038/eye.2013.311 · 2.08 Impact Factor
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    ABSTRACT: Advances in sequencing technology and the movement of genetic testing into all areas of medicine will increase opportunities for molecular confirmation of a clinical diagnosis. For health-care professionals without formal genetics training, there is a need to know what patients understand about genetics and genetic testing and their information needs and preferences for the disclosure of genetic testing results. These topics were explored during face-to-face interviews with 50 adults with inherited retinal disease, selected in order to provide a diversity of opinions. Participants had variable understanding of genetics and genetic testing, including basic concepts such as inheritance patterns and the risk to dependents, and many did not understand the term 'genetic counselling'. Most were keen for extra information on the risk to others, the process for genetic testing and how to share the information with other family members. Participants were divided as to whether genetic testing should be offered at the time of the initial diagnosis or later. Many would prefer the results to be given by face-to-face consultation, supplemented by further information in a format accessible to those with visual impairment. Health-care professionals and either leaflets or websites of trusted agencies were the preferred sources of information. Permission should be sought for disclosure of genetic information to other family members. The information needs of many patients with inherited retinal disease appear to be unmet. An understanding of their information needs and preferences is required to help health-care professionals provide optimal services that meet patient expectations.European Journal of Human Genetics advance online publication, 8 January 2014; doi:10.1038/ejhg.2013.296.
    European journal of human genetics: EJHG 01/2014; 22(9). DOI:10.1038/ejhg.2013.296 · 4.35 Impact Factor
  • Barbara Potrata · Martin McKibbin · Jennifer Nw Lim · Jenny Hewison
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    ABSTRACT: Availability and accuracy of genetic testing in ophthalmology has increased yet the benefits are unclear especially for those conditions where cure or treatments are limited. To explore attitudes to and patients' understanding of possible advantages and disadvantages of genetic testing for inherited retinal disease, we undertook focus groups in three West Yorkshire towns in the UK. Most of our participants had retinitis pigmentosa and one of the focus groups consisted of participants from (British) Asian ethnic background. Here, we report only those attitudes which were common in all three focus groups. Some of the attitudes have already been reported in the literature. Novel findings include attitudes held towards informed choice and life planning, particularly among more severely affected participants. For example, participants appreciated that genetic testing increases informed choice and enables life planning, but these understandings tended to be in a specific sense: informed choice whether to have children and family planning in order to prevent illness recurrence. We conclude that even though these patients are not a homogeneous group, their attitudes tend to be underpinned by deep anxiety of passing their visual impairment onto their children. In this respect, they differ importantly from a small minority of the deaf who would prefer to have children with hearing loss, and from the more general population who do not believe that blindness is a "severe" enough disability to warrant avoiding having children.
    Journal of community genetics 12/2013; 5(3). DOI:10.1007/s12687-013-0176-7
  • BMJ (online) 11/2013; 347:f6610. DOI:10.1136/bmj.f6610 · 17.45 Impact Factor
  • Eye (London, England) 10/2013; 27(12). DOI:10.1038/eye.2013.220 · 2.08 Impact Factor

Publication Stats

814 Citations
358.48 Total Impact Points


  • 2015
    • Leeds Teaching Hospitals NHS Trust
      Leeds, England, United Kingdom
  • 2006–2015
    • University of Leeds
      • • Leeds Institute of Health Sciences (LIHS)
      • • School of Medicine
      • • Section of Ophthalmology and Neurosciences
      Leeds, England, United Kingdom
  • 2000–2015
    • St. James University
      Сент-Джеймс, New York, United States
  • 2014
    • IBMS
      Londinium, England, United Kingdom
    • Moorfields Eye Hospital NHS Foundation Trust
      Londinium, England, United Kingdom
  • 2011
    • Institute of Genetics and Molecular Medicine
      Edinburgh, Scotland, United Kingdom
  • 2009
    • Aga Khan University Hospital, Karachi
      • Department of Medicine
      Karachi, Sindh, Pakistan
  • 2008
    • Leeds Beckett University
      Leeds, England, United Kingdom
    • Saint James School Of Medicine
      Παρκ Ριτζ, Illinois, United States
  • 2007
    • WWF United Kingdom
      Londinium, England, United Kingdom