Anthony T Moore

University of California, San Francisco, San Francisco, California, United States

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Publications (212)1278.13 Total impact

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    ABSTRACT: Background Hermansky–Pudlak syndrome (HPS) may present to the ophthalmologist with signs suggestive of oculocutaneous albinism. Consideration of HPS as a differential diagnosis is important due to its potential systemic complications. HPS6 is a rarely reported subtype. Methods Three patients from two families underwent clinical examination, imaging and targeted systemic investigations. Electrophysiology with visual-evoked potentials (VEPs) was performed in both children of family 1. Whole exome sequencing (WES) was performed on the proband of family 1. Bidirectional Sanger sequencing of the single exon and intron–exon boundaries of HPS6 was performed on all affected patients and segregation confirmed in available relatives. Results Two siblings presented in infancy with nystagmus and reduced vision. They were initially diagnosed with isolated foveal hypoplasia with no aberrant chiasmal misrouting on VEPs. WES performed in the proband when 10 years of age identified a novel homozygous missense variant in HPS6 and further questioning elicited a history of nose bleeds and mild bruising. Segregation supported causality of this variant in the affected younger sibling. In the third unrelated patient, an initial diagnosis of ocular albinism was made at 3 months with HPS only diagnosed at 26 years. Biallelic, truncating mutations in HPS6 were identified by candidate Sanger sequencing and included a novel variant. Abnormal platelet function consistent with HPS was confirmed in all patients. Conclusions The diagnosis of HPS in all patients was delayed due to a mild systemic phenotype. Next-generation sequencing can aid diagnosis of syndromic conditions with important consequences for preventing morbidity.
    No preview · Article · Jan 2016 · British Journal of Ophthalmology
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    ABSTRACT: Advanced age-related macular degeneration (AMD) is the leading cause of blindness in the elderly, with limited therapeutic options. Here we report on a study of >12 million variants, including 163,714 directly genotyped, mostly rare, protein-altering variants. Analyzing 16,144 patients and 17,832 controls, we identify 52 independently associated common and rare variants (P < 5 [times] 10-8) distributed across 34 loci. Although wet and dry AMD subtypes exhibit predominantly shared genetics, we identify the first genetic association signal specific to wet AMD, near MMP9 (difference P value = 4.1 [times] 10-10). Very rare coding variants (frequency <0.1%) in CFH, CFI and TIMP3 suggest causal roles for these genes, as does a splice variant in SLC16A8. Our results support the hypothesis that rare coding variants can pinpoint causal genes within known genetic loci and illustrate that applying the approach systematically to detect new loci requires extremely large sample sizes.
    Full-text · Article · Dec 2015 · Nature Genetics
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    ABSTRACT: Restoring vision in inherited retinal degenerations remains an unmet medical need. In mice exhibiting a genetically engineered block of the visual cycle, vision was recently successfully restored by oral administration of 9-cis-retinyl acetate (QLT091001). Safety and visual outcomes of a once-daily oral dose of 40 mg/m2/day QLT091001 for 7 consecutive days was investigated in an international, multi-center, open-label, proof-of-concept study in 18 patients with RPE65- or LRAT-related retinitis pigmentosa. Eight of 18 patients (44%) showed a ≥20% increase and 4 of 18 (22%) showed a ≥40% increase in functional retinal area determined from Goldmann visual fields; 12 (67%) and 5 (28%) of 18 patients showed a ≥5 and ≥10 ETDRS letter score increase of visual acuity, respectively, in one or both eyes at two or more visits within 2 months of treatment. In two patients who underwent fMRI, a significant positive response was measured to stimuli of medium contrast, moving, pattern targets in both left and right hemispheres of the occipital cortex. There were no serious adverse events. Treatment-related adverse events were transient and the most common included headache, photophobia, nausea, vomiting, and minor biochemical abnormalities. Measuring the outer segment length of the photoreceptor layer with high-definition optical coherence tomography was highly predictive of treatment responses with responders having a significantly larger baseline outer segment thickness (11.7 ± 4.8 μm, mean ± 95% CI) than non-responders (3.5 ± 1.2 μm). This structure-function relationship suggests that treatment with QLT091001 is more likely to be efficacious if there is sufficient photoreceptor integrity.
    Full-text · Article · Dec 2015 · PLoS ONE
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    ABSTRACT: Restored rod visual function after gene therapy can be established unequivocally by demonstrating that, after dark adaptation, spectral sensitivity has the shape characteristic of rods and that this shape collapses to a cone-like shape before rods have recovered after an intense bleach. We used these tests to assess retinal function in eight young adults and children with early-onset severe retinal dystrophy from Phase II of a clinical gene-therapy trial for RPE65 deficiency that involved the subretinal delivery of a recombinant adeno-associated viral vector carrying RPE65. We found substantial improvements in rod sensitivity in two participants: dark-adapted spectral sensitivity was rod-like after treatment and was cone-like before rods had recovered after a bleach. After 40 min of dark adaptation, one participant showed up to 1,000-fold sensitivity improvements 4 months after treatment and the second up to 100-fold improvements 6 months after treatment. The dark-adapted spectral sensitivities of the other six participants remained cone-like and showed little improvement in sensitivity.
    Full-text · Article · Nov 2015 · Journal of Vision

  • No preview · Article · Nov 2015 · Ophthalmology
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    ABSTRACT: To characterize photoreceptor structure and mosaic integrity in subjects with R9AP- and RGS9-associated retinal dysfunction (Bradyopsia) and compare to previous observations in other cone dysfunction disorders such as Oligocone Trichromacy. Observational case series METHODS: Setting: Moorfields Eye Hospital (United Kingdom) and Medical College Wisconsin (USA). Six eyes of three subjects with disease-causing variants in R9AP or RGS9. Detailed retinal imaging using spectral-domain optical coherence tomography and confocal adaptive-optics scanning light ophthalmoscopy. Cone density at 100 μm from foveal center ranged from 123,132 cones/mm(2) to 140,013 cones/mm(2). Cone density ranged from 30,573 to 34,876 cones/mm(2) by 600 μm from center and 15,987 to 16,253 by 1400 μm from center, in keeping with data from normal subjects. Adaptive-optics imaging identified a small, focal hypo-reflective lesion at the foveal center in both eyes of the subject with RGS9-associated disease, corresponding to a discrete outer retinal defect also observed on spectral-domain optical coherence tomography; however the photoreceptor mosaic remained intact at all other observed eccentricities. Bradyopsia and Oligocone Trichromacy share common clinical symptomatology and cannot be discerned on standard clinical findings alone. Adaptive-optics imaging previously demonstrated a sparse mosaic of normal wave-guiding cones remaining at the fovea, with no visible structure outside the central fovea in Oligocone Trichromacy. In contrast, the subjects presented in this study with molecularly confirmed Bradyopsia had a relatively intact and structurally normal photoreceptor mosaic, allowing the distinction between these disorders based on the cellular phenotype and suggesting different pathomechanisms. Copyright © 2015 Elsevier Inc. All rights reserved.
    Full-text · Article · Sep 2015 · American Journal of Ophthalmology
  • Anthony T Moore

    No preview · Article · Jul 2015 · Investigative ophthalmology & visual science
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    ABSTRACT: Multiple isoforms of dystrophin (Dp427, Dp260, Dp140, Dp71) are expressed differentially in the central nervous system (CNS) including the retinal layers. Disruption of these protein products is responsible for cognitive dysfunction, electroretinogram (ERG) abnormalities and behavioural disorders in Duchenne muscular dystrophy (DMD). We studied the ocular characteristics and neuropsychiatric profile of 16 DMD boys. The ISCEV standard, full-field flash ERGs were assessed. Intellectual ability and behavioural disturbances were measured. All genotypes were associated with mildly abnormal photopic ERG a:b-wave amplitude ratios. In addition, we identified the following genotype/phenotype correlations: boys with mutations upstream of exon 30 (ie, isolated Dp427 altered expression) showed normal scotopic a:b ratios, abnormal photopic oscillatory potential OP2 and normal scotopic OP2. Conversely, all boys with DMD mutations downstream of exon 30 showed profoundly 'negative' scotopic ERGs (a:b ratios >1). In these patients, the involvement of Dp260 isoform resulted in the absence of slow rod pathway signalling in15 Hz scotopic flicker ERGs. These boys had abnormal scotopic OP2 and normal photopic OP2. Finally, children with mutations also affecting Dp71 were associated with more pronounced electronegative ERGs. When correlating ERGs to neurodevelopmental outcome, we found a positive correlation between negative scotopic ERGs and neurodevelopmental disturbances, and the most severe findings were in boys with Dp71 disruption. These findings suggest a strong association between DMD mutations affecting different DMD isoforms with characteristically abnormal scotopic ERGs and severe neurodevelopmental problems. The role of the ERG as a potential biomarker for dystrophin function in the CNS and response to novel genetic therapies warrants further exploration.European Journal of Human Genetics advance online publication, 17 June 2015; doi:10.1038/ejhg.2015.135.
    No preview · Article · Jun 2015 · European journal of human genetics: EJHG
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    ABSTRACT: Achromatopsia (ACHM) is an autosomal recessive disorder characterized by color blindness, photophobia, nystagmus and severely reduced visual acuity. Using homozygosity mapping and whole-exome and candidate gene sequencing, we identified ten families carrying six homozygous and two compound-heterozygous mutations in the ATF6 gene (encoding activating transcription factor 6A), a key regulator of the unfolded protein response (UPR) and cellular endoplasmic reticulum (ER) homeostasis. Patients had evidence of foveal hypoplasia and disruption of the cone photoreceptor layer. The ACHM-associated ATF6 mutations attenuate ATF6 transcriptional activity in response to ER stress. Atf6(-/-) mice have normal retinal morphology and function at a young age but develop rod and cone dysfunction with increasing age. This new ACHM-related gene suggests a crucial and unexpected role for ATF6A in human foveal development and cone function and adds to the list of genes that, despite ubiquitous expression, when mutated can result in an isolated retinal photoreceptor phenotype.
    Full-text · Article · Jun 2015 · Nature Genetics
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    ABSTRACT: Incontinentia pigmenti (IP) is an X-linked, dominant genodermatosis usually fatal in utero in males. In rare circumstances, survival is possible due to abnormal karyotype or somatic mosaicism. In this report, the mechanism and significance of loss of detectable mutation in peripheral blood leukocytes of a somatic mosaic male is discussed and an alternative approach to achieving molecular diagnosis presented. A male patient is reported, who initially presented at 2 days of age with a rash and seizure. Clinical assessment and histology of a skin biopsy were consistent with a diagnosis of IP. He was subsequently found to have bilateral retinal detachments. Screening for the common deletion in IKBKG was negative. A novel nonsense variant, c.937C>T (p.Gln313*) in IKBKG was identified at an approximate level of 15% in a blood sample taken at 10 days of age, but was undetectable in a sample taken at 3 years most likely due to selective apoptosis of mutant cells. Samples taken from the patient when he was 5-6 years of age identified the mutation at a low level in hair root and urine but not in blood or buccal cells. The detection of the mutation in cells derived from all germ layers indicates a de novo event at an early stage of embryogenesis. This is the first report of a nonsense mutation in a male IP patient. © 2015 Wiley Periodicals, Inc. © 2015 Wiley Periodicals, Inc.
    No preview · Article · May 2015 · American Journal of Medical Genetics Part A
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    ABSTRACT: Background: Mutations in RPE65 cause Leber's congenital amaurosis, a progressive retinal degenerative disease that severely impairs sight in children. Gene therapy can result in modest improvements in night vision, but knowledge of its efficacy in humans is limited. Methods: We performed a phase 1-2 open-label trial involving 12 participants to evaluate the safety and efficacy of gene therapy with a recombinant adeno-associated virus 2/2 (rAAV2/2) vector carrying the RPE65 complementary DNA, and measured visual function over the course of 3 years. Four participants were administered a lower dose of the vector, and 8 were administered a higher dose. In a parallel study in dogs, we investigated the relationship among vector dose, visual function, and electroretinography (ERG) findings. Results: Improvements in retinal sensitivity were evident, to varying extents, in six participants for up to 3 years, peaking at 6 to 12 months after treatment and then declining. No associated improvement in retinal function was detected by means of ERG. Three participants had intraocular inflammation, and two had clinically significant deterioration of visual acuity. The reduction in central retinal thickness varied among participants. In dogs, RPE65 gene therapy with the same vector at lower doses improved vision-guided behavior, but only higher doses resulted in improvements in retinal function that were detectable with the use of ERG. Conclusions: Gene therapy with rAAV2/2 RPE65 vector improved retinal sensitivity, albeit modestly and temporarily. Comparison with the results obtained in the dog model indicates that there is a species difference in the amount of RPE65 required to drive the visual cycle and that the demand for RPE65 in affected persons was not met to the extent required for a durable, robust effect. (Funded by the National Institute for Health Research and others; number, NCT00643747.).
    Full-text · Article · May 2015 · New England Journal of Medicine
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    ABSTRACT: PurposeMicrocephaly with or without chorioretinopathy, lymphedema or intellectual disability (MCLID) is an autosomal dominant condition. Mutations in KIF11 have been found to be causative in approximately 75% of cases. This study describes the ocular phenotype in patients with confirmed KIF11 mutations.Methods Standard ophthalmic examination and investigation including visual acuity, refraction and fundus examination was carried out in all patients. Fundus autofluorescence imaging (FAF) was performed in three patients, and four patients underwent spectral domain optical coherence tomography (OCT). Flash electroretinography (ERG) was performed in seven patients, and five underwent additional pattern electroretinography (PERG).ResultsThe patients ranged in age from 2 to 10 years. Most presented with visual acuity loss. Fundus examination revealed lacunae of chorioretinal atrophy. Pigmentary macular changes and optic disc pallor were present in three of seven patients. Fundus autofluorescence demonstrated hypoautofluorescence at the macula in two of three patients. The lacunae of chorioretinal atrophy were hypoautofluorescent. The OCT showed atrophic maculae in three of four patients. Follow-up in one patient showed no deterioration of the vision over a 9-year period. The lesions appear not to be progressive on the follow-up imaging. Electrophysiology showed generalized rod and cone dysfunction and severe macular dysfunction. Inner retinal dysfunction was evident in three of seven patients.Conclusions Patients with KIF11 mutations show a specific ocular phenotype with variable expressivity and intrafamilial variability. Macular atrophy and dysfunction have not been consistently documented before. The fundus lesions appear non-progressive. The findings assist in providing an accurate diagnosis and thus improving the management and follow-up of patients with this syndrome.
    No preview · Article · May 2015 · Acta ophthalmologica

  • No preview · Article · Apr 2015 · Ophthalmology
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    Full-text · Article · Apr 2015 · Ophthalmology
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    ABSTRACT: We have identified TUBGCP4 variants in individuals with autosomal-recessive microcephaly and chorioretinopathy. Whole-exome sequencing performed on one family with two affected siblings and independently on another family with one affected child revealed compound-heterozygous mutations in TUBGCP4. Subsequent Sanger sequencing was performed on a panel of individuals from 12 French families affected by microcephaly and ophthalmic manifestations, and one other individual was identified with compound-heterozygous mutations in TUBGCP4. One synonymous variant was common to all three families and was shown to induce exon skipping; the other mutations were frameshift mutations and a deletion. TUBGCP4 encodes γ-tubulin complex protein 4, a component belonging to the γ-tubulin ring complex (γ-TuRC) and known to regulate the nucleation and organization of microtubules. Functional analysis of individual fibroblasts disclosed reduced levels of the γ-TuRC, altered nucleation and organization of microtubules, abnormal nuclear shape, and aneuploidy. Moreover, zebrafish treated with morpholinos against tubgcp4 were found to have reduced head volume and eye developmental anomalies with chorioretinal dysplasia. In summary, the identification of TUBGCP4 mutations in individuals with microcephaly and a spectrum of anomalies in eye development, particularly photoreceptor anomalies, provides evidence of an important role for the γ-TuRC in brain and eye development. Copyright © 2015 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.
    Full-text · Article · Mar 2015 · The American Journal of Human Genetics
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    ABSTRACT: To present a detailed clinical and molecular study of four patients from two consanguineous families with a similar childhood-onset retinal dystrophy resulting from novel homozygous nonsense mutations in RBP3. Four children with mutations in RBP3 encoding interphotoreceptor binding protein (IRBP) were ascertained by whole exome sequencing and subsequent direct Sanger sequencing. Detailed phenotyping was performed including full clinical evaluation, electroretinography, fundus photography, fundus autofluorescence (FAF) imaging and spectral domain optical coherence tomography (OCT). Results of ophthalmic examination, whole exome sequence analysis and Sanger sequence analysis. Two novel homozygous nonsense mutations (c.1530T>A ; p.Y510* and c.3454G>T ; p.E1152*) in RBP3 were identified in four patients from two families. All four patients had a similar, unusual retinal dystrophy characterized by childhood onset high myopia, generalized rod and cone dysfunction and an unremarkable fundus appearance. FAF imaging showed multiple paracentral foci of low autofluorescence in one patient and patchy increased FAF in the region of the vascular arcades in another. The OCT showed loss of outer retinal bands over peripheral macular areas in all 4 cases. This report is the first to describe the retinal dystrophy in children caused by homozygous nonsense RBP3 mutations highlighting the requirement for IRBP in normal eye development and visual function. Longitudinal study will reveal if the four children reported here will progress to a more typical retinitis pigmentosa phenotype previously described in adults with RBP3 mutations. RBP3 related disease should be considered in children with high myopia and retinal dystrophy, particularly when there are no significant fundus changes. Copyright © 2015 by Association for Research in Vision and Ophthalmology.
    No preview · Article · Mar 2015 · Investigative Ophthalmology & Visual Science
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    ABSTRACT: Purpose: To determine the efficacy and prognostic factors associated with carbonic anhydrase inhibitors (CAI) in the treatment of cystoid macular edema (CME) in retinitis pigmentosa (RP). Methods: Cohort study of 81 subjects who were assessed before and after treatment. Spectral domain-optical coherence tomography (SD-OCT) was used to quantify CME. A reduction of at least 11% in central subfield (CSF) thickness was defined as objective evidence of response. Results: In the 125 eyes that received topical dorzolamide, 40.0% demonstrated a response to treatment with a mean reduction in OCT CSF thickness of 105 µm (95% confidence interval (CI) 82, 128). Mean starting visual acuity (VA) increased from 6/15 to 6/12 after a median time on treatment of 3.0 months. In patients prescribed oral acetazolamide, 28.1% of eyes (41.2% of patients) showed improvement in mean OCT CSF thickness of 115 µm (95% CI 52, 177) over a median treatment interval of 4.0 months. VA improved from 6/15 to 6/12. Eyes that responded to topical dorzolamide were more likely to have autosomal recessive than autosomal dominant RP (44.6% vs 23.3%, p=0.02), and a higher mean baseline OCT CSF than eyes that did not respond (p=0.02). Conclusions: We report that 40.0% of eyes (53.1% of patients) showed an objective improvement in CME after treatment with topical dorzolamide and 28.1% of eyes (41.2% of patients) after treatment with oral acetazolamide. Autosomal recessive RP and greater initial central retinal thickness predicted response to treatment with topical dorzolamide. Copyright © 2015 by Association for Research in Vision and Ophthalmology.
    Full-text · Article · Feb 2015 · Investigative Ophthalmology & Visual Science
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    ABSTRACT: Defects in USH2A cause both isolated retinal disease and Usher syndrome (ie, retinal disease and deafness). To gain insights into isolated/nonsyndromic USH2A retinopathy, we screened USH2A in 186 probands with recessive retinal disease and no hearing complaint in childhood (discovery cohort) and in 84 probands with recessive retinal disease (replication cohort). Detailed phenotyping, including retinal imaging and audiological assessment, was performed in individuals with two likely disease-causing USH2A variants. Further genetic testing, including screening for a deep-intronic disease-causing variant and large deletions/duplications, was performed in those with one likely disease-causing change. Overall, 23 of 186 probands (discovery cohort) were found to harbour two likely disease-causing variants in USH2A. Some of these variants were predominantly associated with nonsyndromic retinal degeneration (‘retinal disease-specific’); these included the common c.2276 G>T, p.(Cys759Phe) mutation and five additional variants: c.2802 T>G, p.(Cys934Trp); c.10073 G>A, p.(Cys3358Tyr); c.11156 G>A, p.(Arg3719His); c.12295-3 T>A; and c.12575 G>A, p.(Arg4192His). An allelic hierarchy was observed in the discovery cohort and confirmed in the replication cohort. In nonsyndromic USH2A disease, retinopathy was consistent with retinitis pigmentosa and the audiological phenotype was variable. USH2A retinopathy is a common cause of nonsyndromic recessive retinal degeneration and has a different mutational spectrum to that observed in Usher syndrome. The following model is proposed: the presence of at least one ‘retinal disease-specific’ USH2A allele in a patient with USH2A-related disease results in the preservation of normal hearing. Careful genotype-phenotype studies such as this will become increasingly important, especially now that high-throughput sequencing is widely used in the clinical setting.
    Preview · Article · Feb 2015 · European journal of human genetics: EJHG
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    ABSTRACT: Background: Oliver-McFarlane syndrome is characterised by trichomegaly, congenital hypopituitarism and retinal degeneration with choroidal atrophy. Laurence-Moon syndrome presents similarly, though with progressive spinocerebellar ataxia and spastic paraplegia and without trichomegaly. Both recessively inherited disorders have no known genetic cause. Methods: Whole-exome sequencing was performed to identify the genetic causes of these disorders. Mutations were functionally validated in zebrafish pnpla6 morphants. Embryonic expression was evaluated via in situ hybridisation in human embryonic sections. Human neurohistopathology was performed to characterise cerebellar degeneration. Enzymatic activities were measured in patient-derived fibroblast cell lines. Results: Eight mutations in six families with Oliver-McFarlane or Laurence-Moon syndrome were identified in the PNPLA6 gene, which encodes neuropathy target esterase (NTE). PNPLA6 expression was found in the developing human eye, pituitary and brain. In zebrafish, the pnpla6 curly-tailed morphant phenotype was fully rescued by wild-type human PNPLA6 mRNA and not by mutation-harbouring mRNAs. NTE enzymatic activity was significantly reduced in fibroblast cells derived from individuals with Oliver-McFarlane syndrome. Intriguingly, adult brain histology from a patient with highly overlapping features of Oliver-McFarlane and Laurence-Moon syndromes revealed extensive cerebellar degeneration and atrophy. Conclusions: Previously, PNPLA6 mutations have been associated with spastic paraplegia type 39, Gordon-Holmes syndrome and Boucher-Neuhäuser syndromes. Discovery of these additional PNPLA6-opathies further elucidates a spectrum of neurodevelopmental and neurodegenerative disorders associated with NTE impairment and suggests a unifying mechanism with diagnostic and prognostic importance.
    Full-text · Article · Dec 2014 · Journal of Medical Genetics

  • No preview · Article · Dec 2014 · Acta ophthalmologica

Publication Stats

7k Citations
1,278.13 Total Impact Points


  • 2014-2015
    • University of California, San Francisco
      • Department of Ophthalmology
      San Francisco, California, United States
    • UCL Eastman Dental Institute
      Londinium, England, United Kingdom
  • 2006-2015
    • Great Ormond Street Hospital for Children NHS Foundation Trust
      • Clinical and Academic Department of Ophthalmology (CADO)
      Londinium, England, United Kingdom
  • 1998-2015
    • University College London
      • Institute of Ophthalmology
      Londinium, England, United Kingdom
  • 1987-2015
    • Moorfields Eye Hospital NHS Foundation Trust
      • Department of Medical Retina
      Londinium, England, United Kingdom
  • 2013
    • Central Manchester University Hospitals NHS Foundation Trust
      Manchester, England, United Kingdom
    • University of Cambridge
      • Department of Medical Genetics
      Cambridge, England, United Kingdom
  • 2011
    • UK Department of Health
      Londinium, England, United Kingdom
  • 2009
    • Tehran University of Medical Sciences
      Teheran, Tehrān, Iran
    • City University London
      Londinium, England, United Kingdom
  • 2002
    • University of Leeds
      Leeds, England, United Kingdom
  • 1995
    • Ninewells Hospital
      Dundee, Scotland, United Kingdom
  • 1993-1994
    • Institute of Genetics and Molecular Medicine
      Edinburgh, Scotland, United Kingdom
    • Memorial University of Newfoundland
      Saint John's, Newfoundland and Labrador, Canada