Research and publications from the Ophthalmology department

Our clinical research programmes benefit from the input of clinicians and scientists across many disciplines.

They reflect the questions and challenges that arise daily from the care of infants and children in varied and specialist eye clinics. 

Anterior segment programme

The window to the eye, the cornea, together with the aqueous chamber, iris and lens are regarded as the anterior segment of the eye. The anterior segment must be clear for vision to develop. 

Cataract/lens

Surgeons at Great Ormond Street Hospital (GOSH) have extensive experience and expertise in the management of paediatric cataracts and dislocated lenses. More importantly, the preoperative evaluation and postoperative visual rehabilitation is organised by an extremely skilled multi-specialty team including; optometrists, orthoptists and visual scientists.

The role of different lens materials and techniques of surgery especially in infants have been examined.

You can hear more about some of our cataract research in this podcast from The Lancet 

Glaucoma

Research into modalities of treatment of paediatric glaucoma has included studies on types of medical therapy; high frequency guided cyclophotocoagulation and augmented filtration procedures.

Collaboration with developmental biologists within the Institute of Child Health (ICH) allows for extensive research.

Cornea/external diseases

Eye surgeons at GOSH are world leaders in corneal grafting infants who have complex metabolic disorders and compromised corneal clarity, and have extensive experience managing infants with dysgenesis of the anterior segment and glaucoma.

The team works closely with scientists studying limbal stem cell research and developmental eye genes, and with clinicians from other disciplines e.g. metabolic medicine, to understand and treat the consequences of these diseases.

Uveitis

GOSH is home to one of Europe's largest groups of children affected by uveitis. The GOSH Uveitis team have several areas of research, which seek to answer questions around how we predict, monitor and treat disease. The team are also members of the Paediatric Ocular Inflammation Group

Studies currently underway include:

OCT imaging for the eyes of children with or without uveitis 

Development of a childhood uveitis patient reported symptom score 

Contact a.solebo@ucl.ac.uk for more information 

Posterior segment study programme

Retinal clinics

A clear focused image needs a functioning retina to send bioelectrical messages along the optic nerve to the brain. Some congenital retinal dystrophies have almost normal retinal cells but lack signalling proteins.

The eye unit is working with colleagues in the Institute of Ophthalmology (IOO), to identify those patients who may be the first potential recipients of gene therapy designed to rescue retinal photoreceptors.

The eye team is also working to combine measures of retinal function with structure to assess treatments for chronic and acute inflammation associated with autoimmune disease.

The eye unit is also involved in a major multi centre and multidisciplinary study of retinal function in deaf children, Ushers syndrome.

We are collaborating with the audiology unit at GOSH, genetics in ICH and Sense and colleagues in IOO.

Studies currently underway include:

JEWELFISH - Mr Henderson is the GOSH Ophthalmology Lead for this phase 3 worldwide study looking at a novel treatment (Risdaplam) for Spino-Muscular Atrophy

PERCEIVE - Mr Henderson is the UK Lead for this phase 4 Post-Authorization, Multicenter, Multinational, Longitudinal, Observational Safety Registry Study for Patients Treated with Voretigene Neparvovec

There are also several internal research projects on:

- Incontinentia Pigmenti. Mr Henderson has an ongoing research interest in the ophthalmic features and treatment of IP

- Norrie disease, Coats disease, FEVR (Familial Exudative Vitreoretinopathy) and ROP (retinopathy of Prematurity). This group of diseases are linked through an underlying molecular cascade known as the Wnt Signalling pathway. GOSH has funded a PhD programme supervised by Prof Sowden and Mr Henderson to gain further insights into these retinovascular diseases, the underlying genetics and plan to develop therapeutic strategies.

- Inherited Eye Disease: Mr Henderson, Dr Moosajee, and Prof Sowden have a number of research collaborations identifying the underlying causes of inherited retinal disease; modelling these diseases in Zebrafish (Dr Moosajee at UCL-Institute of Ophthalmology); developing Induced Pluripotent Stem Cell lines (Prof Sowden at UCL Institute of Child Health).

Visual pathway study programme

The eye unit has a special interest in visual development and the functional consequences of congenital pathway misrouting associated with albinism and achiasmia.

We also have active research interests in monitoring and managing acquired pathway compromise in children with craniosynostosis, glioma, and haemangioma. The role of the eye unit in the multidisciplinary care pathway of children with craniofacial anomalies has received supra regional support.

Albinism

Dedicated clinics for children with albinism have allowed international collaboration, with extensive work on the electrophysiology and eye movements of these children.

Craniofacial anomalies

Special clinics have allowed a systematic study of these childrens' visual pathway function, binocularity, strabismus and eye movements. There is a supraregionally funded ophthalmic craniofacial team.

Homonymous Hemianopia in Childhood (The HHIC Project) 

Homonymous Hemianopia (HH) is the absence of vision on one side due to damage that affects the opposite side of the brain. This is one specific type of cortical visual impairment (CVI) – visual impairment as a result of damage to areas of the brain. CVI is the biggest cause of childhood visual impairment in the UK. HH has been quite extensively researched in adults, but comparatively very little is known about it in children.

We are doing a series of detailed eye tests to look at the characteristics of HH in children. Using specially questionnaires, we are measuring the vision-related quality of life of children with HH and how the HH affects their visual function in life. In a smaller subgroup of children, we are giving them glasses with two types of prisms on to see if they help them with their vision. 
The project has been developed in consultation with children with HH and their parents at Great Ormond Street Hospital (GOSH). This project is funded by the National Institute for Health Research (NIHR). For further information about the project please contact Sian Handley (sian.handley.10@ucl.ac.uk). Follow on twitter @HHICProject to see project updates.

Children's clinical network from GOSH to home

In all this the child's welfare remains paramount and the continued care in the community is ensured through the expanding role of the community link nurse.

The community link nurses are working to develop nationwide pathways and strategies of support and care for the visually impaired.

Publications

A selection of our most recent papers is below:

Craniosynostosis

  1. ERF‐related craniosynostosis: The phenotypic and developmental profile of a new craniosynostosis syndrome. Graeme E. Glass, Justine O'Hara, Natalie Canham, Deirdre Cilliers, David Dunaway, Aimee L. Fenwick, Noor‐Owase Jeelani, David Johnson, Tracy Lester, Helen Lord, Jenny E. V. Morton, Hiroshi Nishikawa, Peter Noons, Kemmy Schwiebert, Caroleen Shipster, Alison Taylor‐Beadling, Stephen R. F. Twigg, Pradeep Vasudevan, Steven A. Wall, Andrew O. M. Wilkie, Louise C. Wilson. Am J Med Genet A. 2019 Apr; 179(4): 615–627. Published online 2019 Feb 13. doi: 10.1002/ajmg.a.61073
  2. Syndromic Craniosynostosis: Complexities of Clinical Care. Justine O'Hara, Federica Ruggiero, Louise Wilson, Greg James, Graeme Glass, Owase Jeelani, Juling Ong, Richard Bowman, Michelle Wyatt, Robert Evans, Martin Samuels, Richard Hayward, David J. Dunaway. Mol Syndromol. 2019 Feb; 10(1-2): 83–97. Published online 2019 Jan 16. doi: 10.1159/000495

Adnexal / Orbital disease

  1. Altered ratios of pro‐ and anti‐angiogenic VEGF‐A variants and pericyte expression of DLL4 disrupt vascular maturation in infantile haemangioma. Xi Ye, Yassir Abou‐Rayyah, Joyce Bischoff, Alison Ritchie, Neil J Sebire, Patrick Watts, Amanda J Churchill, David O Bates. J Pathol. 2016 Jun; 239(2): 139–151. Published online 2016 May 13. doi: 10.1002/path.4715
  2. Orbital mass secondary to infantile acute lymphoblastic leukaemia. Ibtesham Tausif Hossain, Mariya Moosajee, Yassir Abou-Rayyah, Vesna Pavasovic. BMJ Case Rep. 2016; 2016: bcr2016214872. Published online 2016 May 2. doi: 10.1136/bcr-2016-214872

Cataract / lens

  1. Visual Axis Opacity after Intraocular Lens Implantation in Children in the First 2 Years of Life: Findings from the IoLunder2 Cohort Study. Solebo AL, Rahi JS; British Congenital Cataract Interest Group.Solebo AL, et al. Ophthalmology. 2020 Mar 5:S0161-6420(20)30226-8. doi: 10.1016/j.ophtha.2020.02.038.
  2. 5-year outcomes after primary intraocular lens implantation in children aged 2 years or younger with congenital or infantile cataract: findings from the IoLunder2 prospective inception cohort study.  Solebo AL, Cumberland P, Rahi JS; British Isles Congenital Cataract Interest Group. Lancet Child Adolesc Health. 2018 Dec;2(12):863-871. doi: 10.1016/S2352-4642(18)30317-1
  3. Novel PEX11B Mutations Extend the Peroxisome Biogenesis Disorder 14B Phenotypic Spectrum and Underscore Congenital Cataract as an Early Feature. Rachel L. Taylor, Mark T. Handley, Sarah Waller, Christopher Campbell, Jill Urquhart, Alison M. Meynert, Jamie M. Ellingford, Deirdre Donnelly, Gisela Wilcox, I. Chris Lloyd, Helen Mundy, David R. FitzPatrick, Charu Deshpande, Jill Clayton-Smith, Graeme C. Black. Invest Ophthalmol Vis Sci. Author manuscript; available in PMC 2018 Mar 7. Published in final edited form as: Invest Ophthalmol Vis Sci. 2017 Jan 1; 58(1): 594–603. doi: 10.1167/iovs.16-21026
  4. Congenital cataract associated with persistent fetal vasculature: findings from IoLunder2. A L Solebo, I Russell-Eggitt, P Cumberland, J S Rahi. Eye (Lond) 2016 Sep; 30(9): 1204–1209. Published online 2016 Jul 29. doi: 10.1038/eye.2016.159
  5. Congenital cataract associated with persistent fetal vasculature: findings from IoLunder2. Solebo AL, Russell-Eggitt I, Cumberland P, Rahi JS.Solebo AL, et al. Eye (Lond). 2016 Sep;30(9):1204-9. doi: 10.1038/eye.2016.159. Epub 2016 Jul 29

Glaucoma

  1. Glaucoma following cataract surgery in the first 2 years of life: frequency, risk factors and outcomes from IoLunder2. Solebo AL, Rahi JS; British Congenital Cataract Interest Group.Solebo AL, et al. Br J Ophthalmol. 2020 Jul;104(7):967-973. doi: 10.1136/bjophthalmol-2019-314804
  2. Comparison of Quality and Output of Different Optimal Perimetric Testing Approaches in Children With Glaucoma. Dipesh E. Patel, Phillippa M. Cumberland, Bronwen C. Walters, Isabelle Russell-Eggitt, John Brookes, Maria Papadopoulos, Peng Tee Khaw, Ananth C. Viswanathan, David Garway-Heath, Mario Cortina-Borja, Jugnoo S. Rahi. JAMA Ophthalmol. 2018 Feb; 136(2): 155–161. Published online 2017 Dec 28. doi: 10.1001/jamaophthalmol.2017.589

Cornea/external diseases

  1. Direct View of the Angle Structures in Bilateral Congenital Megalocornea. Yeo DCM, Figg S, Moore W.Yeo DCM, et al. Ophthalmology. 2018 May;125(5):700. doi: 10.1016/j.ophtha.2018.01.008
  2. Management of inflammatory corneal melt leading to central perforation in children: a retrospective study and review of literature. A Medsinge, E Gajdosova, W Moore, K K Nischal. Eye (Lond) 2016 Apr; 30(4): 593–601. Published online 2016 Jan 29. doi: 10.1038/eye.2015.
  3. Coenzyme Q10 in the Treatment of Corneal Edema in Kearns-Sayre: Is There an Application in Fuchs Endothelial Corneal Dystrophy? Kim J, Medsinge A, Chauhan B, Wiest C, Scanga H, Monaghan R, Moore WH, Nischal KK.Kim J, et al. Cornea. 2016 Sep;35(9):1250-4. doi: 10.1097/ICO.0000000000000927

Uveitis and inflammatory eye disease

  1. Areas of agreement in the management of childhood non-infectious chronic anterior uveitis in the UK. Solebo AL, Rahi JS, Dick AD, Ramanan AV, Ashworth J, Edelsten C; Members of the POIG Uveitis Delphi Group. Br J Ophthalmol. 2020 Jan;104(1):11-16. doi: 10.1136/bjophthalmol-2018-313789
  2. Proposal for a definition for response to treatment, inactive disease and damage for JIA associated uveitis based on the validation of a uveitis related JIA outcome measures from the Multinational Interdisciplinary Working Group for Uveitis in Childhood (MIWGUC). Ivan Foeldvari, Jens Klotsche, Gabriele Simonini, Clive Edelsten, et al. Pediatr Rheumatol Online J. 2019; 17: 66. Published online 2019 Oct 1. doi: 10.1186/s12969-019-0345-2
  3. Management of paediatric ocular inflammatory disease in the UK: national survey of practice. AL Solebo, JS Rahi, C Edelsten, JL Ashworth, AD Dick. Eye (Lond) Author manuscript; available in PMC 2020 Feb 27.
  4. Under-utilisation of reproducible, child appropriate or patient reported outcome measures in childhood uveitis interventional research. Ameenat L. Solebo, Robert J. Barry, Pearse A. Keane, Jugnoo S. Rahi, Alastair K. Denniston. Orphanet J Rare Dis. 2019; 14: 125. Published online 2019 Jun 6. doi: 10.1186/s13023-019-1108-
  5. Consensus-based recommendations for the management of uveitis associated with juvenile idiopathic arthritis: the SHARE initiative. Tamas Constantin, Ivan Foeldvari, Jordi Anton, Joke de Boer, Severine Czitrom-Guillaume, Clive Edelsten, et al. Ann Rheum Dis. 2018 Aug; 77(8): 1107–1117. Published online 2018 Mar 28. doi: 10.1136/annrheumdis-2018-213131

Retina

  1. Inherited retinal dystrophies. Henderson RH . Paediatrics and Child Health 2020, 30(1):19-27
  2. Clinical and Molecular Characterization of Familial Exudative Vitreoretinopathy Associated With Microcephaly. Hull S, Arno G, Ostergaard P, Pontikos N, Robson AG, Webster AR, Hogg CR, Wright GA, Henderson RHH, Martin CA et al. Am J Ophthalmol 2019, 207:87-98
  3. Longitudinal Examination of Fellow-Eye Vascular Anomalies in Coats’ Disease With Widefield Fluorescein Angiography: A Multicenter Study. Karen W. Jeng-Miller, Taha Soomro, Sui Chien Wong et al. Ophthalmic Surg Lasers Imaging Retina. Author manuscript; available in PMC 2019 Jul 9. Published in final edited form as: Ophthalmic Surg Lasers Imaging Retina. 2019 Apr 1; 50(4): 221–227. doi: 10.3928/23258160-20190401-04
  4. Reduction of severe visual loss and complications following intra-arterial chemotherapy (IAC) for refractory retinoblastoma. Reddy MA, Naeem Z, Duncan C, Robertson F, Herod J, Rennie A, Liasis A, Thompson DA, Sagoo M. Br J Ophthalmol. 2017 Dec;101(12):1704-1708. doi: 10.1136/bjophthalmol-2017-310294
  5. Clinical Characterization of CNGB1-Related Autosomal Recessive Retinitis Pigmentosa. Hull S, Attanasio M, Arno G, Carss K, Robson AG, Thompson DA, Plagnol V, Michaelides M, Holder GE, Henderson RH, Raymond FL, Moore AT, Webster AR. JAMA Ophthalmol. 2017 Feb 1;135(2):137-144. doi: 10.1001/jamaophthalmol.2016.5213.
  6. Unilateral BEST1-Associated Retinopathy. Arora R, Khan K, Kasilian ML, Strauss RW, Holder GE, Robson AG, Thompson DA, Moore AT, Michaelides M. Am J Ophthalmol. 2016 Sep;169:24-32. doi: 10.1016/j.ajo.2016.05.024.

Vitreoretinal

  1. Accuracy of scleral transillumination techniques to identify infant ciliary body for sclerostomy and intravitreal injections. Sharma A, Ali A, Henderson RH, Patel CK, VandenHoven C, Lam WC. Clin Exp Ophthalmol 2019, 47(4):478-483
  2. Immediate Sequential Bilateral Pediatric Vitreoretinal Surgery: An International Multicenter Study. Yoshihiro Yonekawa, Sui Chien Wong, C.K. Patel, , Robert H. Henderson, et al. Ophthalmology. Author manuscript; available in PMC 2017 Jul 23. Published in final edited form at: Ophthalmology. 2016 Aug; 123(8): 1802–1808.

Visual pathways / optic nerve

  1. Microstructural Investigations of the Visual Pathways in Pediatric Epilepsy Neurosurgery: Insights From Multi-Shell Diffusion Magnetic Resonance Imaging. Luís M. Lacerda, Jonathan D. Clayden, Sian E. Handley, Gavin P. Winston, Enrico Kaden, Martin Tisdall, J. Helen Cross, Alki Liasis, Chris A. Clark. Front Neurosci. 2020; 14: 269. Published online 2020 Apr 8
  2. Study of Optimal Perimetric Testing in Children (OPTIC): evaluation of kinetic approaches in childhood neuro-ophthalmic disease. Dipesh E Patel, Phillippa M Cumberland, Bronwen C Walters, Mario Cortina-Borja, Jugnoo S Rahi. Br J Ophthalmol. 2019 Aug; 103(8): 1085–1091. Published online 2018 Sep 19. doi: 10.1136/bjophthalmol-2018-312591
  3. Retinal nerve fibre layer thinning is associated with worse visual outcome after optic neuritis in children with a relapsing demyelinating syndrome. Eyre M, Hameed A, Wright S, Brownlee W, Ciccarelli O, Bowman R, Lim M, Wassmer E, Thompson D, Hemingway C, Hacohen Y. Dev Med Child Neurol. 2018 Dec;60(12):1244-1250. doi: 10.1111/dmcn.13757
  4. Delineation of the visual pathway in paediatric optic pathway glioma patients using probabilistic tractography, and correlations with visual acuity. Patrick W. Hales, Victoria Smith, Deepi Dhanoa-Hayre, Patricia O'Hare, Kshitij Mankad, Felice d'Arco, Jessica Cooper, Ramneek Kaur, Kim Phipps, Richard Bowman, Darren Hargrave, Christopher Clark. Neuroimage Clin. 2018; 17: 541–548. Published online 2017 Oct 11. doi: 10.1016/j.nicl.2017.10.010
  5. Trans-synaptic Retrograde Degeneration Following Hemispherectomy in Childhood. Sian E. Handley, Vasiliki S. Panteli, Alki Liasis. Neuroophthalmology. 2017 Apr; 41(2): 103–107. Published online 2017 Feb 15. doi: 10.1080/01658107.2016.1276935
  6. Childhood-onset Leber hereditary optic neuropathy. Majander A, Bowman R, Poulton J, Antcliff RJ, Reddy MA, Michaelides M, Webster AR, Chinnery PF, Votruba M, Moore AT, Yu-Wai-Man P. Br J Ophthalmol. 2017 Nov;101(11):1505-1509. doi: 10.1136/bjophthalmol-2016-310072.
  7. Ocular and neurodevelopmental features of Duchenne muscular dystrophy: a signature of dystrophin function in the central nervous system. Ricotti V, Jägle H, Theodorou M, Moore AT, Muntoni F, Thompson DA. Eur J Hum Genet. 2016 Apr;24(4):562-8. doi: 10.1038/ejhg.2015.135. Epub 2015 Jun 17

Visual Electrophysiology

  1. VEP estimation of visual acuity: a systematic review. Hamilton R, Bach M, Heinrich SP, Hoffmann MB, Odom JV, McCulloch DL, Thompson DA.Doc Ophthalmol. 2020 Jun 2. doi: 10.1007/s10633-020-09770-3
  2. Light-Adapted Electroretinogram Differences in Autism Spectrum Disorder. Constable PA, Ritvo ER, Ritvo AR, Lee IO, McNair ML, Stahl D, Sowden J, Quinn S, Skuse DH, Thompson DA, McPartland JC. J Autism Dev Disord. 2020 Feb 7. doi: 10.1007/s10803-020-04396-5
  3. Visual electrodiagnostics and eye movement recording - World Society of Pediatric Ophthalmology and Strabismus (WSPOS) consensus statement. Manca Tekavcic Pompe, Alki Liasis, Richard Hertle, in the name of WSPOS Scientific Bureau. Indian J Ophthalmol. 2019 Jan; 67(1): 23–30
  4. ISCEV extended protocol for the dark-adapted red flash ERG. Dorothy A. Thompson, Kaoru Fujinami, Ido Perlman, Ruth Hamilton, Anthony G. Robson. Doc Ophthalmol. 2018; 136(3): 191–197. Published online 2018 Jun 22. doi: 10.1007/s10633-018-9644-z
  5. ERGs on the brain: the benefits of simultaneous flash retinal and cortical responses in paediatric cerebral visual impairment. Sian E. Handley, Dorothy A. Thompson, Katrina L. Prise, Alki Liasis. Doc Ophthalmol. 2018; 136(3): 223–227. Published online 2018 May 3. doi: 10.1007/s10633-018-9631-4
  6. Pattern Onset ERGs and VEPs Produced by Patterns Arising From Light Increment and Decrement. Fritsch DM, Sowden JC, Thompson DA. Invest Ophthalmol Vis Sci. 2018 Jan 1;59(1):94-99. doi: 10.1167/iovs.17-22984
  7. The changing shape of the ISCEV standard pattern onset VEP. Dorothy A. Thompson, Dennis M. Fritsch, Sharon E. Hardy, The POW Study Group. Doc Ophthalmol. 2017; 135(1): 69–76. Published online 2017 Jun 13. doi: 10.1007/s10633-017-9596-8
  8. A meta-analysis of clinical electro-oculography values. Constable PA, Ngo D, Quinn S, Thompson DA. Doc Ophthalmol. 2017 Dec;135(3):219-232. doi: 10.1007/s10633-017-9616-8. Epub 2017 Oct 10
  9. Visual mismatch negativity to masked stimuli presented at very brief presentation rates. Maria Flynn, Alki Liasis, Mark Gardner, Tony Towell. Exp Brain Res. 2017; 235(2): 555–563. Published online 2016 Nov 3. doi: 10.1007/s00221-016-4807-1
  10. Full-field electroretinogram in autism spectrum disorder. Constable PA, Gaigg SB, Bowler DM, Jägle H, Thompson DA. Doc Ophthalmol. 2016 Apr;132(2):83-99. doi: 10.1007/s10633-016-9529-y. Epub 2016 Feb 11.
  11. THE PHYSIOLOGY OF THE RETINAL PIGMENT EPITHELIUM IN DANON DISEASE. Thompson DA, Constable PA, Liasis A, Walters B, Esteban MT. Retina. 2016 Mar;36(3):629-38. doi: 10.1097/IAE.0000000000000736

Genetics of eye and vision disorders

  1. Expanding the phenotypic spectrum consequent upon de novo WDR37 missense variants. Hay E, Henderson RH, Mansour S, Deshpande C, Jones R, Nutan S, Mankad K, Young RM, Moosajee M, Consortium GUR. Clinical Genetics 2020
  2. Clinical utility of genetic testing in 201 preschool children with inherited eye disorders. Eva Lenassi, Jill Clayton-Smith, Sofia Douzgou, Simon C. Ramsden, Stuart Ingram, Georgina Hall, Claire L. Hardcastle, Tracy A. Fletcher, Rachel L. Taylor, Jamie M. Ellingford, William D. Newman, Cecilia Fenerty, Vinod Sharma, I. Chris Lloyd, Susmito Biswas, Jane L. Ashworth, Graeme C. Black, Panagiotis I. Sergouniotis. Genet Med. 2020; 22(4): 745–751. Published online 2019 Dec 18. doi: 10.1038/s41436-019-0722-8
  3. Clinical utility gene card for: inherited optic neuropathies including next-generation sequencing-based approaches. Jurkute N, Majander A, Bowman R, Votruba M, Abbs S, Acheson J, Lenaers G, Amati-Bonneau P, Moosajee M, Arno G, Yu-Wai-Man P. Eur J Hum Genet. 2019 Mar;27(3):494-502. doi: 10.1038/s41431-018-0235-y. Epub 2018 Aug 24.
  4. The Oculome panel test: next-generation sequencing to diagnose a diverse range of genetic developmental eye disorders. Patel A, Hayward JD, Tailor V, Nyanhete R, Ahlfors H, Gabriel C, Jannini TB, Abbou-Rayyah Y, Henderson R, Nischal KK. Ophthalmology 2019, 126(6):888-907
  5. The Spectrum of PAX6 Mutations and Genotype-Phenotype Correlations in the Eye, Dulce Lima Cunha, Gavin Arno, Marta Corton, Mariya Moosajee. Genes (Basel) 2019 Dec; 10(12): 1050. Published online 2019 Dec 17. doi: 10.3390/genes10121050
  6. The Molecular Basis of Human Anophthalmia and Microphthalmia. Philippa Harding, Mariya Moosajee. J Dev Biol. 2019 Sep; 7(3): 16. Published online 2019 Aug 14. doi: 10.3390/jdb7030016
  7. Conditional Dicer1 depletion using Chrnb4-Cre leads to cone cell death and impaired photopic vision. Aldunate EZ, Di Foggia V, Di Marco F, Hervas LA, Ribeiro JC, Holder DL, Patel A, Jannini TB, Thompson DA, Martinez-Barbera JP, Pearson RA, Ali RR, Sowden JC. Sci Rep. 2019 Feb 19;9(1):2314. doi: 10.1038/s41598-018-38294-9
  8. Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease. Carss KJ, Arno G, Erwood, Henderson RHH, Thompson DA, NIHR-BioResource Rare Diseases Consortium, et al.Am J Hum Genet. 2017 Jan 5;100(1):75-90. doi: 10.1016/j.ajhg.2016.12.003. Epub 2016 Dec 29.
  9. Clinical utility gene card for: Wolfram syndrome. Moosajee M, Yu-Wai-Man P, Rouzier C, Bitner-Glindzicz M, Bowman R.Eur J Hum Genet. 2016 Nov;24(11). doi: 10.1038/ejhg.2016.49. Epub 2016 May 25
  10. Genetic Analysis of ‘PAX6-Negative’ Individuals with Aniridia or Gillespie Syndrome. Morad Ansari, Jacqueline Rainger, David S. Taylor, Anthony T. Moore, Isabelle Russell-Eggitt, Lily Islam, et al. PLoS One. 2016; 11(4): e0153757. Published online 2016 Apr 28. i: 10.1371/journal.pone.015375

Visual Impairment and childhood blindness

  1. A patient-reported outcome measure of functional vision for children and young people aged 8 to 18 years with visual impairment. Robertson AO, Tadić V, Cortina-Borja M, Rahi JS; Child Vision PROMs group.Robertson AO, et al. Am J Ophthalmol. 2020 Apr 29:S0002-9394(20)30189-6. doi: 10.1016/j.ajo.2020.04.021. Online ahead of print.Am J Ophthalmol. 2020. PMID: 32360333
  2. An Age- and Stage-Appropriate Patient-Reported Outcome Measure of Vision-Related Quality of Life of Children and Young People with Visual Impairment.  Tadić V, Robertson AO, Cortina-Borja M, Rahi JS; Child Vision Patient-Reported Outcome Measures Group.Tadić V, et al. Among authors: Robertson AO. Ophthalmology. 2020 Feb;127(2):249-260. doi: 10.1016/j.ophtha.2019.08.033. Epub 2019 Sep 10.Ophthalmology. 2020. PMID: 31623869
  3. Overcoming barriers to the involvement of deafblind people in conversations about research: recommendations from individuals with Usher syndrome. Andrew Skilton, Emma Boswell, Kevin Prince, Priya Francome-Wood, Mariya Moosajee. Res Involv Engagem. 2018; 4: 40. Published online 2018 Oct 26. doi: 10.1186/s40900-018-0124-0
  4. Is there consensus in defining childhood cerebral visual impairment? A systematic review of terminology and definitions. Sakki HEA, Dale NJ, Sargent J, Perez-Roche T, Bowman R. Br J Ophthalmol. 2018 Apr;102(4):424-432. doi: 10.1136/bjophthalmol-2017-310694. Epub 2017 Nov 16
  5. Transition from paediatric to adult ophthalmology services: what matters most to young people with visual impairment. A O Robertson, V Tadić, J S Rahi. Eye (Lond) 2018 Feb; 32(2): 406–414. Published online 2017 Sep 22. doi: 10.1038/eye.2017.203
  6. Do visually impaired children and their parents agree on the child's vision-related quality of life and functional vision? Valerija Tadić, Phillippa M Cumberland, Gillian Lewando-Hundt, Jugnoo S Rahi. Br J Ophthalmol. 2017 Mar; 101(3): 244–250. Published online 2016 Jun 7. doi: 10.1136/bjophthalmol-2016-308582
  7. Measuring the Quality of Life of Visually Impaired Children: First Stage Psychometric Evaluation of the Novel VQoL_CYP Instrument. Valerija Tadić, Andrew Cooper, Phillippa Cumberland, Gillian Lewando-Hundt, Jugnoo S. Rahi. PLoS One. 2016; 11(2): e0146225. Published online 2016 Feb 26. doi: 10.1371/journal.pone.

International Ophthalmology

  1. Global Retinoblastoma Presentation and Analysis by National Income Level. Global Retinoblastoma Study Group, Richard Bowman. JAMA Oncol. 2020 May; 6(5): 1–12. Published online 2020 Feb 27. doi: 10.1001/jamaoncol.2019.6716
  2. Clinical features and aetiology of cerebral palsy in children from Cross River State, Nigeria. Duke R, Torty C, Nwachukwu K, Ameh S, Kim M, Eneli N, Onyedikachi A, Aghaji A, Burton K, Dyet L, Bowman R. Arch Dis Child. 2020 Jul;105(7):625-630. doi: 10.1136/archdischild-2019-317932.
  3. Dual sensory impairment in special schools in South-Eastern Nigeria. Aghaji AE, Bowman R, Ofoegbu VC, Smith A. Arch Dis Child. 2017 Feb;102(2):174-177. doi: 10.1136/archdischild-2016-311285
  4. The effect of visual support strategies on the quality of life of children with cerebral palsy and cerebral visual impairment/perceptual visual dysfunction in Nigeria: study protocol for a randomized controlled trial. Duke R, Eyong K, Burton K, MacLeod D, Dutton GN, Gilbert C, Bowman R. Trials. 2019 Jul 10;20(1):417. doi: 10.1186/s13063-019-3527-9
  5. Unmet needs of cataract blind children in special schools in Southeast Nigeria.  Aghaji A, Okoye O, Bowman R. Eye (Lond). 2018 Feb;32(2):469-470. doi: 10.1038/eye.2017.176. Epub 2017 Sep 1