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. 


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.


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.

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.

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.


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.

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.


Reference 1

Arora A, Minogue PJ, Liu X, Addison PK, Russel-Eggitt I, Webster AR, Hunt DM, Ebihara L, Beyer EC, Berthoud VM, Moore AT (2008) A novel connexin50 mutation associated with congenital nuclear pulverulent cataracts. J Med Genet 45 (3): 155-60

Reference 2

Audo I, Michaelides M, Robson AG, Hawlina M, Vaclavik V, Sandbach JM, Neveu MM, Hogg CR, Hunt DM, Moore AT, Bird AC, Webster AR, Holder GE (2008) Phenotypic variation in enhanced S-cone syndrome. Invest Ophthalmol Vis Sci 49 (5): 2082-93

Reference 3

Audo I, Robson AG, Holder GE, Moore AT (2008) The negative ERG: clinical phenotypes and disease mechanisms of inner retinal dysfunction. Surv Ophthalmol 53 (1): 16-40

Reference 4

Bainbridge JW, Smith AJ, Barker SS, Robbie S, Henderson R, Balaggan K, Viswanathan A, Holder GE, Stockman A, Tyler N, Petersen-Jones S, Bhattacharya SS, Thrasher AJ, Fitzke FW, Carter BJ, Rubin GS, Moore AT, Ali RR (2008) Effect of gene therapy on visual function in Leber's congenital amaurosis. N Engl J Med 358 (21): 2231-9

Reference 5

Bockenhauer D, Feather S, Stanescu HC, Bandulik S, Zdebik AA, Reichold M, Tobin J, Lieberer E, Sterner C, Landoure G, Arora R, Sirimanna T, Thompson D, Cross JH, van't Hoff W, Al Masri O, Tullus K, Yeung S, Anikster Y, Klootwijk E, Hubank M, Dillon MJ, Heitzmann D, Arcos-Burgos M, Knepper MA, Dobbie A, Gahl WA, Warth R, Sheridan E, Kleta R (2009) Epilepsy, ataxia, sensorineural deafness, tubulopathy, and KCNJ10 mutations. N Engl J Med 360 (19): 1960-70

Reference 6

Bredrup C, Matejas V, Barrow M, Bláhová K, Bockenhauer D, Fowler DJ, Gregson RM, Maruniak-Chudek I, Medeira A, Mendonça EL, Kagan M, Koenig J, Krastel H, Kroes HY, Saggar A, Sawyer T, Schittkowski M, Swietliński J, Thompson D, VanDeVoorde RG, Wittebol-Post D, Woodruff G, Zurowska A, Hennekam RC, Zenker M, Russell-Eggitt I (2008) Ophthalmological aspects of Pierson syndrome. Am J Ophthalmol 146 (4): 602-611

Reference 7

Briggs TA, Abdel-Salam GM, Balicki M, Baxter P, Bertini E, Bishop N, Browne BH, Chitayat D, Chong WK, Eid MM, Halliday W, Hughes I, Klusmann-Koy A, Kurian M, Nischal KK, Rice GI, Stephenson JB, Surtees R, Talbot JF, Tehrani NN, Tolmie JL, Toomes C, van der Knaap MS, Crow YJ (2008) Cerebroretinal microangiopathy with calcifications and cysts (CRMCC). Am J Med Genet A 146A (2): 182-90

Reference 8

Coccia M, Brooks SP, Webb TR, Christodoulou K, Wozniak IO, Murday V, Balicki M, Yee HA, Wangensteen T, Riise R, Saggar AK, Park SM, Kanuga N, Francis PJ, Maher ER, Moore AT, Russell-Eggitt IM, Hardcastle AJ (2009) X-linked cataract and Nance-Horan syndrome are allelic disorders. Hum Mol Genet 18 (14): 2643-55

Reference 9

Flynn M, Liasis A, Gardner M, Boyd S, Towell T (2009) Can illusory deviant stimuli be used as attentional distractors to record vMMN in a passive three stimulus oddball paradigm?. Exp Brain Res 197 (2): 153-61

Reference 10

Gore DM, Thyagarajan S, Liasis A, Nischal KK (2009) Functioning avascular retinae-a report of two siblings. Eye (Lond) 23 (2): 491-3

Reference 11

Goyal R, Thompson D, Timms C, Wilson LC, Russell-Eggitt I (2008) Review of cases presenting with microcephaly and bilateral congenital cataract in a paediatric cataract clinic. Eye (Lond) 22 (2): 273-81

Reference 12

Henderson RH, Williamson KA, Kennedy JS, Webster AR, Holder GE, Robson AG, FitzPatrick DR, van Heyningen V, Moore AT (2009) A rare de novo nonsense mutation in OTX2 causes early onset retinal dystrophy and pituitary dysfunction. Mol Vis 15 (): 2442-7

Reference 13

Khan JC, Shahid H, Thurlby DA, Yates JR, Moore AT (2008) Charles Bonnet syndrome in age-related macular degeneration: the nature and frequency of images in subjects with end-stage disease. Ophthalmic Epidemiol 15 (3): 202-8

Reference 14

Liasis A, Hildebrand D, Clark C, Katz X, Gunny R, Stieltjes B, Taylor D (2009) Sensory function in severe semilobar holoprosencephaly. Neurocase 15 (2): 110-8

Reference 15

Low S, Hamada S, Nischal KK (2008) Antimetabolite and releasable suture augmented filtration surgery in refractory pediatric glaucomas. J AAPOS 12 (2): 166-72

Reference 16

Malik AN, Hildebrand GD, Sekhri R, Russell-Eggitt IM (2008) Bilateral macular scars following intrauterine herpes simplex virus type 2 infection. J AAPOS 12 (3): 305-6

Reference 17

Mehta A, Hindmarsh PC, Mehta H, Turton JP, Russell-Eggitt I, Taylor D, Chong WK, Dattani MT (2009) Congenital hypopituitarism: clinical, molecular and neuroradiological correlates. Clin Endocrinol (Oxf) 71 (3): 376-82

Reference 18

Metlapally R, Michaelides M, Bulusu A, Li YJ, Schwartz M, Rosenberg T, Hunt DM, Moore AT, Züchner S, Rickman CB, Young TL (2009) Evaluation of the X-linked high-grade myopia locus (MYP1) with cone dysfunction and color vision deficiencies. Invest Ophthalmol Vis Sci 50 (4): 1552-8

Reference 19

Minogue PJ, Tong JJ, Arora A, Russell-Eggitt I, Hunt DM, Moore AT, Ebihara L, Beyer EC, Berthoud VM (2009) A mutant connexin50 with enhanced hemichannel function leads to cell death. Invest Ophthalmol Vis Sci 50 (12): 5837-45

Reference 20

Moradi P, Mackay D, Hunt DM, Moore AT (2008) Focus on molecules: retinol dehydrogenase 12 (RDH12). Exp Eye Res 87 (3): 160-1

Reference 21

Nischal KK (2009) Amblyopia: what does the future hold?. Br J Ophthalmol 93 (10): 1271-2

Reference 22

Parry DA, Mighell AJ, El-Sayed W, Shore RC, Jalili IK, Dollfus H, Bloch-Zupan A, Carlos R, Carr IM, Downey LM, Blain KM, Mansfield DC, Shahrabi M, Heidari M, Aref P, Abbasi M, Michaelides M, Moore AT, Kirkham J, Inglehearn CF (2009) Mutations in CNNM4 cause Jalili syndrome, consisting of autosomal-recessive cone-rod dystrophy and amelogenesis imperfecta. Am J Hum Genet 84 (2): 266-73

Reference 23

Robson AG, Michaelides M, Luong VA, Holder GE, Bird AC, Webster AR, Moore AT, Fitzke FW (2008) Functional correlates of fundus autofluorescence abnormalities in patients with RPGR or RIMS1 mutations causing cone or cone rod dystrophy. Br J Ophthalmol 92 (1): 95-102

Reference 24

Robson AG, Michaelides M, Saihan Z, Bird AC, Webster AR, Moore AT, Fitzke FW, Holder GE (2008) Functional characteristics of patients with retinal dystrophy that manifest abnormal parafoveal annuli of high density fundus autofluorescence; a review and update. Doc Ophthalmol 116 (2): 79-89

Reference 25

Sivaprasad S, Moore AT (2008) Choroidal neovascularisation in children. Br J Ophthalmol 92 (4): 451-4

Reference 26

Smith KA, Nischal KK (2009) Consecutive exotropia: does one size fit all?. Br J Ophthalmol 93 (6): 706-7

Reference 27

Smith KA, Jones SM, Nischal KK (2009) Refractive and ocular motility findings in children with epidermolysis bullosa. Am Orthopt J 59 (): 76-83

Reference 28

Solebo AL, Russell-Eggitt I, Nischal KK, Moore AT, Cumberland P, Rahi JS, British Isles Congenital Cataract Interest Group (2009) Cataract surgery and primary intraocular lens implantation in children < or = 2 years old in the UK and Ireland: finding of national surveys. Br J Ophthalmol 93 (11): 1495-8

Reference 29

Sousa SB, Russell-Eggitt I, Hall C, Hall BD, Hennekam RC (2008) Further delineation of spondylometaphyseal dysplasia with cone-rod dystrophy. Am J Med Genet A 146A (24): 3186-94

Reference 30

Witherow H, Dunaway D, Evans R, Nischal KK, Shipster C, Pereira V, Hearst D, White M, Jones BM, Hayward R (2008) Functional outcomes in monobloc advancement by distraction using the rigid external distractor device. Plast Reconstr Surg 121 (4): 1311-22

Reference 31

Wong IB, Sukthankar VD, Cortina-Borja M, Nischal KK (2009) Incidence of early-onset glaucoma after infant cataract extraction with and without intraocular lens implantation. Br J Ophthalmol 93 (9): 1200-3

Reference 32

Wyatt A, Bakrania P, Bunyan DJ, Osborne RJ, Crolla JA, Salt A, Ayuso C, Newbury-Ecob R, Abou-Rayyah Y, Collin JR, Robinson D, Ragge N (2008) Novel heterozygous OTX2 mutations and whole gene deletions in anophthalmia, microphthalmia and coloboma. Hum Mutat 29 (11): E278-83

Reference 33

Yang Z, Chen Y, Lillo C, Chien J, Yu Z, Michaelides M, Klein M, Howes KA, Li Y, Kaminoh Y, Chen H, Zhao C, Chen Y, Al-Sheikh YT, Karan G, Corbeil D, Escher P, Kamaya S, Li C, Johnson S, Frederick JM, Zhao Y, Wang C, Cameron DJ, Huttner WB, Schorderet DF, Munier FL, Moore AT, Birch DG, Baehr W, Hunt DM, Williams DS, Zhang K (2008) Mutant prominin 1 found in patients with macular degeneration disrupts photoreceptor disk morphogenesis in mice. J Clin Invest 118 (8): 2908-16