Dr Gail Maconachie

Ophthalmology and Orthoptics, School of Allied Health Professions, Nursing and Midwifery

University Lecturer

g.d.maconachie@sheffield.ac.uk
+44 114 225 9034

E100f, The Medical School

Full contact details

Dr Gail Maconachie
Ophthalmology and Orthoptics, School of Allied Health Professions, Nursing and Midwifery
E100f
The Medical School
Beech Hill Road
Sheffield
S10 2RX

Profile

I graduated from the University of Sheffield as an undergraduate with a BMedSci (Orthoptics) in 2009. Following my degree, I took up a post as a research orthoptist at the University of Leicester with an honorary clinical orthoptic contract with the Leicester Royal Infirmary. Alongside this role I under-took a part-time PhD with Professor Irene Gottlob and Dr Frank Proudlock looking at adherence in amblyopia treatment and the development of strabismus. I completed my PhD in 2015 and continued to work as a research orthoptist working within the department with a focus on amblyopia clinical trials and genetics in nystagmus.

In October 2018, I gained a lecturer post at the University of Sheffield. In 2020 I became module lead for our second year undergraduate orthoptic modules and module lead for eye to vision on our distance learning MMedSci Course. I also continue to collaborate with the University of Leicester as an honorary research fellow.

Research interests: My two main research interest areas are ocular genetics and amblyopia treatment.

Publications

Journal articles

Roychaudhury A, Lee Y, Choi T, Thomas MG, Khan TN, Yousaf H, Skinner C, Maconachie G, Crosier M, Horak H , Constantinescu CS et al (2024) SRPK3 Is essential for cognitive and ocular development in humans and zebrafish, explaining X-linked intellectual disability. Annals of Neurology. View this article in WRRO
Proudlock FA, Hisaund M, Maconachie G, Papageorgiou E, Manouchehrinia A, Dahlmann-Noor A, Khandelwal P, Self J, Beisse C, Gottlob I , Mellors A et al (2024) Extended optical treatment versus early patching with an intensive patching regimen in children with amblyopia in Europe (EuPatch): a multicentre, randomised controlled trial. The Lancet, 403(10438), 1766-1778.
Lee H, Purohit R, Sheth V, Maconachie G, Tu Z, Thomas MG, Pilat A, McLean RJ, Proudlock FA & Gottlob I (2023) Retinal Development in Infants and Young Children With Albinism: Evidence for Plasticity in Early Childhood. American Journal of Ophthalmology, 245, 202-211.
Kuht HJ, McLean RJ, Aamir A, Maconachie GDE, Gottlob I & Thomas MG (2023) Albinism Associated With Torsional Nystagmus Masquerading as Spasmus Nutans. Journal of Neuro-Ophthalmology, 43(4), e313-e315.
Kuht HJ, Maconachie GDE, Han J, Kessel L, van Genderen MM, McLean RJ, Hisaund M, Tu Z, Hertle RW, Gronskov K , Bai D et al (2022) Genotypic and phenotypic spectrum of foveal hypoplasia : a multicenter study. Ophthalmology, 129(6), 708-718.
Thomas MG, Maconachie GDE, Kuht HJ, Chan W-M, Sheth V, Hisaund M, McLean RJ, Barry B, Al-Diri B, Proudlock FA , Tu Z et al (2021) Optic nerve head and retinal abnormalities associated with congenital fibrosis of the extraocular muscles. International Journal of Molecular Sciences, 22(5).
Dawar B, Kuht HJ, Han J, Maconachie GDE & Thomas MG (2021) Clinical utility gene card for FRMD7-related infantile nystagmus. European Journal of Human Genetics, 29(10), 1584-1588.
Liu S, Kuht HJ, Moon EH, Maconachie GDE & Thomas MG (2021) Current and emerging treatments for albinism. Survey of Ophthalmology, 66(2), 362-377.
Kuht HJ, Thomas KA, Hisaund M, Maconachie GDE & Thomas MG (2021) Ocular Manifestations of PNPT1-Related Neuropathy. Journal of Neuro-Ophthalmology, 41(3), e293-e296.
Kuht HJ, Han J, Maconachie GDE, Park SE, Lee S-T, McLean R, Sheth V, Hisaund M, Dawar B, Sylvius N , Mahmood U et al (2020) SLC38A8 mutations result in arrested retinal development with loss of cone photoreceptor specialization. Human Molecular Genetics, 29(18), 2989-3002.
Whitman MC, Di Gioia SA, Chan W-M, Gelber A, Pratt BM, Bell JL, Collins TE, Knowles JA, Armoskus C, Pato M , Pato C et al (2020) Recurrent Rare Copy Number Variants Increase Risk for Esotropia. Investigative Opthalmology & Visual Science, 61(10), 22-22.
Ansell K, Maconachie G & Bjerre A (2020) Does the EyeChart App for iPhones Give Comparable Measurements to Traditional Visual Acuity Charts?. British and Irish Orthoptic Journal, 16(1), 19-24.
Thomas MG, Maconachie GDE, Constantinescu CS, Chan W-M, Barry B, Hisaund M, Sheth V, Kuht HJ, Dineen RA, Harieaswar S , Engle EC et al (2020) Congenital monocular elevation deficiency associated with a novelTUBB3gene variant. British Journal of Ophthalmology, 104(4), 547-550.
Mayer AK, Mahajnah M, Thomas MG, Cohen Y, Habib A, Schulze M, Maconachie GDE, AlMoallem B, De Baere E, Lorenz B , Traboulsi EI et al (2019) Homozygous stop mutation in AHR causes autosomal recessive foveal hypoplasia and infantile nystagmus. Brain, 142(6), 1528-1534.
Papageorgiou E, Asproudis I, Maconachie G, Tsironi EE & Gottlob I (2019) The treatment of amblyopia: current practice and emerging trends. Graefe's Archive for Clinical and Experimental Ophthalmology, 257(6), 1061-1078.
Shaaban S, MacKinnon S, Andrews C, Staffieri SE, Maconachie GDE, Chan W-M, Whitman MC, Morton SU, Yazar S, MacGregor S , Elder JE et al (2018) Genome-Wide Association Study Identifies a Susceptibility Locus for Comitant Esotropia and Suggests a Parent-of-Origin Effect. Investigative Opthalmology & Visual Science, 59(10), 4054-4054.
Seewoodharry MD, Maconachie GDE, Gillies CL, Gottlob I & McLean RJ (2017) The Effects of Feedback on Adherence to Treatment: A Systematic Review and Meta-analysis of RCTs. American Journal of Preventive Medicine, 53(2), 232-240.
Thomas MG, Maconachie GDE, Sheth V, McLean RJ & Gottlob I (2017) Development and clinical utility of a novel diagnostic nystagmus gene panel using targeted next-generation sequencing. European Journal of Human Genetics, 25(6), 725-734.
Maconachie GDE, Farooq S, Bush G, Kempton J, Proudlock FA & Gottlob I (2016) Association Between Adherence to Glasses Wearing During Amblyopia Treatment and Improvement in Visual Acuity. JAMA Ophthalmology, 134(12), 1347-1347.
Pilat A, McLean RJ, Proudlock FA, Maconachie GDE, Sheth V, Rajabally YA & Gottlob I (2016) In Vivo Morphology of the Optic Nerve and Retina in Patients With Parkinson's Disease. Investigative Opthalmology & Visual Science, 57(10), 4420-4420.
Patel A, Purohit R, Lee H, Sheth V, Maconachie G, Papageorgiou E, McLean RJ, Gottlob I & Proudlock FA (2016) Optic Nerve Head Development in Healthy Infants and Children Using Handheld Spectral-Domain Optical Coherence Tomography. Ophthalmology, 123(10), 2147-2157.
McLean RJ, Maconachie GDE, Gottlob I & Maltby J (2016) The Development of a Nystagmus-Specific Quality-of-Life Questionnaire. Ophthalmology, 123(9), 2023-2027.
Park JG, Tischfield MA, Nugent AA, Cheng L, Di Gioia SA, Chan W-M, Maconachie G, Bosley TM, Summers CG, Hunter DG , Robson CD et al (2016) Loss of MAFB Function in Humans and Mice Causes Duane Syndrome, Aberrant Extraocular Muscle Innervation, and Inner-Ear Defects. The American Journal of Human Genetics, 98(6), 1220-1227.
Maconachie GDE & Gottlob I (2015) The challenges of amblyopia treatment. Biomedical Journal, 38(6), 510-516. View this article in WRRO
Lee H, Purohit R, Patel A, Papageorgiou E, Sheth V, Maconachie G, Pilat A, McLean RJ, Proudlock FA & Gottlob I (2015) In Vivo Foveal Development Using Optical Coherence Tomography. Investigative Opthalmology & Visual Science, 56(8), 4537-4537.
Lee H, Purohit R, Sheth V, Papageorgiou E, Maconachie G, McLean RJ, Patel A, Pilat A, Anwar S, Sarvanathan N , Proudlock FA et al (2015) Retinal development in albinism: a prospective study using optical coherence tomography in infants and young children. The Lancet, 385, S14-S14.
Gottlob I, Pilat A, McLean R, Maconachie G, Sheth V, Rajabally Y & Proudlock F (2014) High Resolution Optical Coherence Tomography of the Retina Demonstrates Selective Changes in Individual Retinal Layers in Parkinson’s Disease (P2.279). Neurology, 82(10_supplement).
Thomas MG, Crosier M, Lindsay S, Kumar A, Araki M, Leroy BP, McLean RJ, Sheth V, Maconachie G, Thomas S , Moore AT et al (2014) Abnormal retinal development associated with FRMD7 mutations. Human Molecular Genetics, 23(15), 4086-4093.
Lee H, Sheth V, Bibi M, Maconachie G, Patel A, McLean RJ, Michaelides M, Thomas MG, Proudlock FA & Gottlob I (2013) Potential of Handheld Optical Coherence Tomography to Determine Cause of Infantile Nystagmus in Children by Using Foveal Morphology. Ophthalmology, 120(12), 2714-2724.
Gottlob I, Pilat A, McLean R, Sheth V, Maconachie G, Rajabally Y & Proudlock FA (2013) High resolution optical coherence tomography of the retina demonstrates selective thinning in individual retinal layers in Parkinson's disease. Journal of the Neurological Sciences, 333, e134-e135.
Maconachie GDE, Gottlob I & McLean RJ (2013) Risk Factors and Genetics in Common Comitant Strabismus. JAMA Ophthalmology, 131(9), 1179-1179.
Sheth V, Gottlob I, Mohammad S, McLean RJ, Maconachie GDE, Kumar A, Degg C & Proudlock FA (2013) Diagnostic Potential of Iris Cross-sectional Imaging in Albinism Using Optical Coherence Tomography. Ophthalmology, 120(10), 2082-2090.
Thomas MG, Gottlob I, McLean RJ, Maconachie G, Kumar A & Proudlock FA (2011) Reading Strategies in Infantile Nystagmus Syndrome. Investigative Opthalmology & Visual Science, 52(11), 8156-8156.
Griffiths HJ, Maconachie G & Buckley D (2010) The effect of Fresnel prisms on dynamic visual acuity.. British and Irish Orthoptic Journal, 7, 49-53. View this article in WRRO
Thomas MG, Maconachie G, Hisaund M & Gottlob I (1993) FRMD7-Related Infantile Nystagmus.
Aamir A, Kuht HJ, McLean RJ, Maconachie GDE, Sheth V, Dawar B, Purohit R, Sylvius N, Hisaund M, Zubcov-Iwantscheff A , Proudlock FA et al () Discordant phenotypes in twins with infantile nystagmus. Scientific Reports, 11(1).

Preprints

Kim C-H, Lee Y-R, Thomas M, Roychaudhury A, Skinner C, Maconachie G, Crosier M, Horak H, Constantinescu C, Choi T-I , Kyung J-J et al (2023) Eye movement defects in KO zebrafish reveals SRPK3 as a causative gene for an X-linked intellectual disability, Research Square Platform LLC.

Grants

“Improving the genetic diagnosis in infantile nystagmus” - Fight for Sight 2017 – co applicant
“Can feedback increase adherence to patching and spectacle wear in amblyopia” - National Eye Research Centre 2013 – co-applicant

Teaching interests

Module Lead:

ORT210 clinical orthoptics
ORT212 Strabismus and Ocular Motility
ORT6003 Eye to Vision

Teaching activities: Undergraduate Admission Tutor

Professional activities and memberships

Member of the British and Irish Orthoptic Society
Registered with the Health Profession Council
Honorary Research Fellow at the University of Leicester
Co-Lead for the British & Irish Orthoptic Society Early Career Research Orthoptists network