Prof. Mariya Moosajee

Professor Mariya Moosajee is an academic ophthalmologist specialising in genetic eye diseases that spans the front to the back of the eye. She undertakes research into the genes that cause eye diseases and develops novel therapies. Mariya has a research lab at University College London Institute of Ophthalmology and the Francis Crick Institute in London.

She also undertakes studies looking at high resolution clinical signs in the eyes of patients using imaging tests to map disease progression and identify outcome measures for clinical trials.


Professor Moosajee has an expertise in genetic eye disease.

Qualifications and training

Professor Moosajee graduated with First Class Honours in Biochemistry and Molecular Genetics in 2000, Medicine (MBBS) in 2003, and was awarded her PhD in Molecular Ophthalmology in 2009 all from Imperial College London. Her current clinical focus is providing a genomic service for children affected with all forms of non-syndromic and syndromic genetic eye disease at GOSH. She sees children and adults making it easy for teenagers to transition to adult services but also for the whole family to be considered together.

Research interests

Professor Moosajee undertakes detailed clinical studies using state-of-the-art imaging tools to further our understanding of the natural history of patients with genetic eye disease, this helps to identify outcome measures to apply to clinical trials to monitor responses to treatments. Professor Moosajee also leads her own research group at the UCL Institute of Ophthalmology and the Francis Crick Institute, and her specialist interest is understanding the genetic basis of inherited eye diseases that can affect children from birth or in early childhood. This permits the identification of potential therapeutic targets, for which she then develops novel treatment strategies for a wide range of genetic eye disorders.

Publications (genetic eye disease)

  1. Balogh E, Chandler JC, Varga M, Tahoun M, Menyhárd DK, Schay G, Goncalves T, Hamar R, Légrádi R, Szekeres Á, Gribouval O, Kleta R, Stanescu H, Bockenhauer D, Kerti A, Williams H, Kinsler V, Di WL, Curtis D, Kolatsi-Joannou M, Hammid H, Szőcs A, Perczel K, Maka E, Toldi G, Sava F, Arrondel C, Kardos M, Fintha A, Hossain A, D'Arco F, Kaliakatsos M, Koeglmeier J, Mifsud W, Moosajee M, Faro A, Jávorszky E, Rudas G, Saied MH, Marzouk S, Kelen K, Götze J, Reusz G, Tulassay T, Dragon F, Mollet G, Motameny S, Thiele H, Dorval G, Nürnberg P, Perczel A, Szabó AJ, Long DA, Tomita K, Antignac C, Waters AM, Tory K. Pseudouridylation Defect Due to DKC1 and NOP10Mutations Causes Nephrotic Syndrome With Cataracts, Hearing Impairment, and Enterocolitis. Proc Natl Acad Sci U S A. 2020 Jun 17:202002328. doi: 10.1073/pnas.2002328117.

  2. Way CM, Cunha DL, Moosajee M. Translational readthrough inducing drugs for the treatment of inherited retinal dystrophies, Expert Rev Ophthalmol. 2020 DOI: 10.1080/17469899.2020.1762489

  3. Hay E, Henderson RH, Mansour S, Deshpande C, Jones R, Nutan S, Mankad K, Young RM, Moosajee M; Genomics UK Research Consortium, Arno G. Expanding the phenotypic spectrum consequent upon de novo WDR37 missense variants. Clin Genet. 2020 Jun 12. doi: 10.1111/cge.13795

  4. Hagag AM, Mitsios A, Narayan A, Abbouda A, Webster AR, Dubis AM, Moosajee M. Prospective Deep Phenotyping of Choroideremia Patients Using Multimodal Structure-Function Approaches. Eye (Lond). 2020 May 28. doi: 10.1038/s41433-020-0974-1.

  5. Pontikos N, Arno G, Jurkute N, Schiff E, Ba-Abbad R, Malka S, Gimenez A, Georgiou M, Wright G, Armengol M, Knight H, Katz M, Moosajee M, Yu-Wai-Man P, Moore AT, Michaelides M, Webster AR, Mahroo OA. Genetic Basis of Inherited Retinal Disease in a Molecularly Characterized Cohort of More Than 3000 Families From the United Kingdom. Ophthalmology. 2020 Apr 16:S0161-6420(20)30332-8. doi: 10.1016/j.ophtha.2020.04.008. 

  6. Sarkar H, Dubis AM, Downes S, Moosajee M. Novel Heterozygous Deletion in Retinol Dehydrogenase 12 (RDH12) Causes Familial Autosomal Dominant Retinitis Pigmentosa. Front Genet. 2020 Apr 8;11:335. doi: 10.3389/fgene.2020.00335

  7. Toms M, Dubis AM, de Vrieze E, Tracey-White D, Mitsios A, Hayes M, Broekman S, Baxendale S, Utoomprurkporn N, Bamiou D, Bitner-Glindzicz M, Webster AR, Van Wijk E, Moosajee M. Clinical and preclinical therapeutic outcome metrics for USH2A-related disease. Hum Mol Genet. 2020 Jan 30. pii: ddaa004. doi: 10.1093/hmg/ddaa004

  8. Best J, Liu PY, Ffytche D, Potts J, Moosajee M. Think sight loss, think Charles Bonnet syndrome. Ther Adv Ophthalmol. 2019 Dec 20;11:2515841419895909. doi: 10.1177/2515841419895909.

  9. Eintracht J, Corton M, FitzPatrick D, Moosajee M. CUGC for syndromic microphthalmia including next-generation sequencing-based approaches. Eur J Hum Genet. 2020 Jan 2. doi: 10.1038/s41431-019-0565-4.

  10. Lima Cunha D, Arno G, Corton M, Moosajee M. The Spectrum of PAX6 Mutations and Genotype-Phenotype Correlations in the Eye. Genes (Basel). 2019 Dec 17;10(12). pii: E1050. doi: 10.3390/genes10121050. 

  11. Harding P, Moosajee M. Isolated microphthalmia-anophthalmia-coloboma. Orphanet Encyclopaedia, November, 2019, URL address:

  12. Toms M, Dubis AM, Lim WS, Webster AR, Gorin MB, Moosajee M. Missense variants in the conserved transmembrane M2 protein domain of KCNJ13 associated with retinovascular changes in humans and zebrafish. Exp Eye Res. 2019 Oct 21:107852. doi: 10.1016/j.exer.2019.107852

  13. Narayan A, Moosajee M. Sparse scalp hair and vision loss: think hypotrichosis with juvenile macular dystrophy. BMJ Case Rep. 2019 Oct 23;12(10). pii: e232342. doi: 10.1136/bcr-2019-232342.

  14. Sarkar H, Moosajee M. Retinol dehydrogenase 12 (RDH12): Role in vision, retinal disease and future perspectives. Exp Eye Res. 2019 Nov;188:107793. doi: 10.1016/j.exer.2019.107793. 

  15. Harding P, Moosajee M. The Molecular Basis of Human Anophthalmia and Microphthalmia. J Dev Biol. 2019 Aug 14;7(3). pii: E16. doi: 10.3390/jdb7030016.

  16. Harding P, Brooks BP, FitzPatrick D, Moosajee M. Anophthalmia including next-generation sequencing-based approaches. Eur J Hum Genet. 2019 Jul 29. doi: 10.1038/s41431-019-0479-1.

  17. Brejchova K, Dudakova L, Skalicka P, Dobrovolny R, Masek P, Putzova M, Moosajee M, Tuft SJ, Davidson AE, Liskova P. IPSC-Derived Corneal Endothelial-like Cells Act as an Appropriate Model System to Assess the Impact of SLC4A11 Variants on Pre-mRNA Splicing. Invest Ophthalmol Vis Sci. 2019 Jul 1;60(8):3084-3090

  18. Hagag AM, Mitsios A, Gill JS, Nunez Do Rio JM, Theofylaktopoulos V, Houston S, Webster AR, Dubis AM, Moosajee M. Characterisation of microvascular abnormalities using OCT angiography in patients with biallelic variants in USH2A and MYO7A. Br J Ophthalmol. 2019 Jul 2. pii: bjophthalmol-2019-314243. doi: 10.1136/bjophthalmol-2019-314243.

  19. Gill JS, Moosajee M, Dubis AM. Cellular imaging of inherited retinal diseases using adaptive optics. Eye (Lond). 2019 Jun 4. doi: 10.1038/s41433-019-0474-3.

  20. Owen N, Moosajee M. RNA-sequencing in ophthalmology research: considerations for experimental design and analysis. Ther Adv Ophthalmol. 2019 Mar 15;11:2515841419835460. doi: 10.1177/2515841419835460. 

  21. Toms M, Burgoyne T, Tracey-White D, Richardson R, Dubis AM, Webster AR, Futter C, Moosajee M. Phagosomal and mitochondrial alterations in RPE may contribute to KCNJ13 retinopathy. Sci Rep. 2019 Mar. doi:10.1038/s41598-019-40507-8

  22. Ali Z, Cui D, Yang Y, Tracey-White D, Vazquez-Rodriguez G, Moosajee M, Ju R, Li X, Cao Y, Jensen LD. Synchronized tissue-scale vasculogenesis and ubiquitous lateral sprouting underlie the unique architecture of the choriocapillaris. Dev Biol. 2019 Feb 20. pii: S0012-1606(18)30621-3. doi: 10.1016/j.ydbio.2019.02.002

  23. Richardson R, Tracey-White D, Toms M, Young RM, Owen N, Moosajee M. Transcriptomic profiling of zebrafish optic fissure fusion. Sci Rep. 2019 Feb 7;9(1):1541. doi: 10.1038/s41598-018-38379-5.

  24. Sarkar H, Mitsios A, Smart M, Skinner J, Welch A, Kalatzis V, Coffey P, Dubis AM, Webster A, Moosajee M. Nonsense-mediated mRNA decay efficiency varies in choroideremia providing a target to boost small molecule therapeutics. Hum Mol Genet. 2019 Jan 23. doi: 10.1093/hmg/ddz028.

  25. Patel A, Hayward JD, Tailor V, Nyanhete R, Ahlfors H, Gabriel C, Jannini TB, Abbou-Rayyah Y, Henderson R, Nischal KK, Islam L, Bitner-Glindzicz M, Hurst J, Valdivia LE, Zanolli M, Moosajee M, Brookes J, Papadopoulos M, Khaw PT, Cullup T, Jenkins L, Dahlmann-Noor A, Sowden JC. The Oculome panel test: next-generation sequencing to diagnose a diverse range of genetic developmental eye disorders. Ophthalmology. 2019 Jan 14. pii: S0161-6420(18)31858-X. doi: 10.1016/j.ophtha.2018.12.050

  26. Mitsios A, Dubis AM, Moosajee M. Choroideremia: from genetic and clinical phenotyping to gene therapy and future treatments Ther Adv Ophthalmol. 2019.

  27. Moosajee M, Ali MA, Wong SC. Retinal Angiography Findings in Male Infant With Incontinentia Pigmenti and Sickle Cell Trait. JAMA Ophthalmol. 2018;136(11):e183140. doi:10.1001/jamaophthalmol.2018.3140

  28. Skilton A, Boswell E, Prince K, Francome-Wood P, Moosajee M. Overcoming barriers to the involvement of deafblind people in conversations about research: recommendations from individuals with Usher syndrome. Res Involv Engagem. 2018 Oct 26;4:40. doi: 10.1186/s40900-018-0124-0

  29. Moosajee M, Hingorani M, Moore AT. PAX6-related aniridia. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018. 2003 May 20 [updated 2018 Oct 18].

  30. 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. Clinical utility gene card for: inherited optic neuropathies including next-generation sequencing-based approaches. Eur J Hum Genet. 2018 Aug 24. doi: 10.1038/s41431-018-0235-y.

  31. Yu-Wai-Man C, Arno G, Brookes J, Garcia-Feijoo J, Khaw PT, Moosajee M. Primary congenital glaucoma including next-generation sequencing-based approaches: clinical utility gene card. Eur J Hum Genet. 2018 Aug 8. doi: 10.1038/s41431-018-0227-y.

  32. Torriano S, Erkilic N, Baux D, Cereso N, De Luca V, Meunier I, Moosajee M, Roux AF, Hamel CP, Kalatzis V. The effect of PTC124 on choroideremia fibroblasts and iPSC-derived RPE raises considerations for therapy. Sci Rep. 2018 May 29;8(1):8234. doi: 10.1038/s41598-018-26481-7.

  33. Sarkar H, Moore W, Leroy BP, Moosajee M. CUGC for congenital primary aphakia. Eur J Hum Genet. 2018 May 16. doi: 10.1038/s41431-018-0171-x. 

  34. Bladen JC, Wang J, Sangaralingam A, Moosajee M, Fitchett C, Chelala C, Beaconsfield M, O'Toole EA, Philpott MP, Ezra DG. MicroRNA and transcriptome analysis in periocular Sebaceous Gland Carcinoma. Sci Rep. 2018 May 14;8(1):7531. doi: 10.1038/s41598-018-25900-z.

  35. Bladen JC, Moosajee M, Tracey-White D, Beaconsfield M, O'Toole EA, Philpott MP. Analysis of hedgehog signaling in periocular sebaceous carcinoma. Graefes Arch Clin Exp Ophthalmol. 2018 Feb 8. doi: 10.1007/s00417-018-3900-5.

  36. Moosajee M, Abbouda A, Foot B, Bunce C, Moore AT, Acheson J. Active surveillance of choroidal neovascularisation in children; Incidence, aetiology and management findings from a national study in the United Kingdom. Br J Ophthal. 2017 Aug 26. doi: 10.1136/bjophthalmol-2017-310445

  37. Abbouda A, Dubis A, Webster AR, Moosajee M. Identifying characteristic features of the retinal and choroidal vasculature in Choroideremia using optical coherence tomography angiography. Eye (Lond). 2017 Nov 17. doi: 10.1038/eye.2017.242

  38. Abbouda A, Lim W, Sporogyte L, Webster AR, Moosajee M. Quantitative and qualitative features of spectral domain optical coherence tomography provide prognostic indicators for visual acuity in choroideremia patients. Ophthalmic Surg Lasers Imaging Retina 2017 Sep 1;48(9):711-716. 

  39. Moosajee M, Ferguson V. Response to Aslankurt et al. re: "Safety Profile of Stromal Hydration of Clear Corneal Incisions with Cefuroxime in the Mouse Model". J Ocul Pharmacol Ther. 2017 Jun;33(5):338-339. 

  40. Eastlake K, Heywood WE, Tracey-White D, Aquino E, Bliss E, Vasta GR, Mills K, Khaw PT, Moosajee M, Limb GA. Comparison of proteomic profiles in the zebrafish retina during experimental degeneration and regeneration. Sci Rep. 2017 Mar 16;7:44601. doi: 10.1038/srep44601.

  41. Richardson R, Sowden J, Gerth-Kahlert C, Moore AT, Moosajee M. Clinical utility gene card for: Non-Syndromic Microphthalmia Including Next-Generation Sequencing-Based Approaches. Eur J Hum Genet. 2017 Jan 18. doi: 10.1038/ejhg.2016.201.

  42. Richardson R, Smart M, Tracey-White D, Webster AR, Moosajee M. Mechanism and evidence of nonsense suppression therapy for genetic eye disorders. Exp Eye Res. 2017 Jan 6;155:24-37.

  43. Toms M, Tracey-White D, Muhundhakumar D, Sprogyte L, Dubis AM, Moosajee M. Spectral Domain Optical Coherence Tomography: An In Vivo Imaging Protocol for Assessing Retinal Morphology in Adult Zebrafish. Zebrafish. 2017 Jan. doi: 10.1089/zeb.2016.1376

  44. Richardson R, Tracey-White D, Webster A, Moosajee M. The zebrafish eye – a paradigm for investigating human ocular genetics. Eye (Lond). 2017 Jan;31(1):68-86.

  45. Moosajee M, Tracey-White D, Smart M, Weetall M, Torriano S, Kalatzis V, da Cruz L, Coffey P, Webster AR, Welch E. Functional rescue of REP1 following treatment with PTC124 and novel derivative PTC-414 in human choroideremia fibroblasts and the nonsense-mediated zebrafish model. Hum Mol Genet. 2016 Aug 15;25(16):3416-3431.

  46. Hossain IT, Moosajee M, Abou-Rayyah Y, Pavasovic V. Orbital mass secondary to infantile acute lymphoblastic leukaemia. BMJ Case Rep. 2016 May 3;2016. pii: bcr2016214872. doi: 10.1136/bcr-2016-214872.

  47. Moosajee M, Yu-Wai-Man P, Rouzier C, Bitner-Glindzicz M, Bowman R. Clinical utility gene card for: Wolfram syndrome. Eur J Hum Genet. 2016 Nov;24(11). doi: 10.1038/ejhg.2016.49.

  48. Richardson R, Hingorani M, Van Heyningen V, Gregory-Evans C, Moosajee M. Clinical utility gene card for: Aniridia. Eur J Hum Genet. 2016 Nov;24(11). doi: 10.1038/ejhg.2016.73.

  49. Hull S, Owen N, Islam F, Tracey-White D, Plagnol V, Holder G, Michaelides M, Carss K, Raymond L, Rozet J, Ramsden SC, Black GCM, Perrault I, Moosajee M, Webster AR, Arno G, Moore AT. Non-syndromic retinal dystrophy due to bi-allelic mutations in the ciliary transport gene IFT140. Invest Ophthalmol Vis Sci 2016 Mar 1;57(3):1053-62

  50. Toms M, Bitner-Glindzicz M, Webster A, Moosajee M. Usher syndrome: A review of the clinical phenotype, genes and therapeutic strategies. Expert Rev Ophthalmol. 2015 Apr: 10 (3): 241-256