Naser Ali

Moorfields Eye Hospital

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Michel Michaelides

University College London

Michalis Georgiou

University College London

Omar A. Mahroo

University College London

Thales A. C. de Guimarães

University College London

Anthony G. Robson

University College London

Andrew R. Webster

University College London

Kaoru Fujinami

Moorfields Eye Hospital

Nikolas Pontikos

University College London

Angelos Kalitzeos

University College London

Taylor Blachley

Navitas Systems (United States)

Cooperative Institutions

University College London

Moorfields Eye Hospital

Moorfields Eye Hospital NHS Foundation Trust

Institute of Ophthalmology

National Institute for Health Research

NIHR Moorfields Biomedical Research Centre

National Health Service

Queen Mary University of London

St Thomas' Hospital

University of Cambridge

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Progressive ataxia with oculo-palatal tremor and optic atrophy

Journal of Neurology (2013)

MM Papachatzaki Naser Ali Qadeer Arshad Sarah Cader I. Peppas

Neuroradiology

10.1007/s00415-013-7136-3

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Citations (6)

The effective dose result of¹⁸F-FDG PET-CT paediatric patients

Journal of Physics Conference Series (2017)

Dhalisa Hussin Mohamad Aminudin Said Naser Ali A.A. Tajuddin Rafidah Zainon

Paediatric patient received high exposure from both CT and PET examination. Automatic Exposure Control (AEC) is important in CT dose reduction. This study aimed to compare the effective dose obtained from PET-CT scanner with and without the use of AEC function. In this study, 68 patients underwent PET-CT examination without the use of AEC function, while 25 patients used the AEC function during the examination. Patients involved in this study were between 2 to 15 years old with varies of malignancies and epilepsy diseases. The effective dose obtained from PET and CT examinations was calculated based on recommendation from International Commission on Radiological Protection (ICRP) Publication 106 and ICRP publication 102. The outcome of this study shows that the radiation dose was reduced up to 20% with the use of AEC function. The mean average of effective dose result obtained from PET and CT examinations without the use of AEC and AEC function were found to be as 6.67 mSv, 6.77 mSv, 6.03mSv and 4.96 mSv respectively. Where total effective dose result of PET-CT with non-AEC and AEC were found to be 13.44 mSv and 10.99 mSv respectively. Conclusion of this study is, the installation of AEC function in PET-CT machine does play important role in CT dose reduction especially for paediatric patient.

10.1088/1742-6596/851/1/012004

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Citations (3)

Extending the phenotypic spectrum of PRPF8, PRPH2, RP1 and RPGR, and the genotypic spectrum of early-onset severe retinal dystrophy

Orphanet Journal of Rare Diseases (2021)

Michalis Georgiou Naser Ali Elizabeth Yang Parampal S. Grewal Tryfon Rotsos

Abstract Purpose To present the detailed retinal phenotype of patients with Leber Congenital Amaurosis/Early-Onset Severe Retinal Dystrophy (LCA/EOSRD) caused by sequence variants in four genes, either not (n = 1) or very rarely (n = 3) previously associated with the disease. Methods Retrospective case series of LCA/EOSRD from four pedigrees. Chart review of clinical notes, multimodal retinal imaging, electrophysiology, and molecular genetic testing at a single tertiary referral center (Moorfields Eye Hospital, London, UK). Results The mean age of presentation was 3 months of age, with disease onset in the first year of life in all cases. Molecular genetic testing revealed the following disease-causing variants: PRPF8 (heterozygous c.5804G > A), PRPH2 (homozygous c.620_627delinsTA, novel variant), RP1 (homozygous c.4147_4151delGGATT, novel variant) and RPGR (heterozygous c.1894_1897delGACA). PRPF8, PRPH2, and RP1 variants have very rarely been reported, either as unique cases or case reports, with limited clinical data presented. RPGR variants have not previously been associated with LCA/EOSRD. Clinical history and detailed retinal imaging are presented. Conclusions The reported cases extend the phenotypic spectrum of PRPF8- , PRPH2-, RP1- , and RPGR- associated disease, and the genotypic spectrum of LCA/EOSRD. The study highlights the importance of retinal and functional phenotyping, and the importance of specific genetic diagnosis to potential future therapy.

GUCY2D

Human genetics

10.1186/s13023-021-01759-8

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Citations (11)

Fundus Findings Associated with Complications in X-Linked Retinoschisis

Investigative Ophthalmology & Visual Science (2017)

Abigail T. Fahim Naser Ali Taylor Blachley Michel Michaelides

Fundus (uterus)

Retinoschisis

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Citations (0)

Cross-Sectional and Longitudinal Assessment of the Ellipsoid Zone in Childhood-Onset Stargardt Disease

Translational Vision Science & Technology (2019)

Preena Tanna Michalis Georgiou Rupert W. Strauß Naser Ali Neruban Kumaran

To evaluate the reliability of ellipsoid zone (EZ) loss width and area measurements from spectral-domain optical coherence tomography (SD-OCT) images and track disease progression in childhood-onset Stargardt disease (STGD1).Children with molecularly confirmed STGD1 (n = 46, mean age 12.4 years) underwent SD-OCT for the measurement of the transverse (width) loss of the EZ and en face analysis to quantify the area of EZ loss. All scans were analyzed twice by two graders to evaluate reliability. The annual rate of EZ width and area loss were calculated.The intra- and intergrader reliability of transverse EZ loss and area of EZ loss measurements at baseline for both graders was 0.99. The mean annual rate of transverse EZ loss (±standard deviation) was 279.5 ± 259.9 μm/y. The mean rate of area of EZ loss (±standard deviation) was 1.20 ± 1.29 mm2/y. The percentage transverse EZ loss was 10.2 ± 9.9%/y, which was significantly lower than the area of EZ loss at 19.4 ± 16.3%/y. High degree of interocular symmetry was observed.This is a prospective study on the quantification of EZ loss in children with STGD1 and highlights the reliability of SD-OCT in measuring EZ loss. High intra- and intergrader reliability was observed, with good ability to detect changes over time.Measuring the area of EZ loss was more sensitive compared with transverse EZ width loss measurements and will be valuable for natural history studies and clinical trials requiring sensitive and reliable structural endpoints.

Stargardt disease

10.1167/tvst.8.2.1

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Citations (38)

Peripheral fundus findings in X-linked retinoschisis

British Journal of Ophthalmology (2017)

Abigail T. Fahim Naser Ali Taylor Blachley Michel Michaelides

Background/aims

Vitreous haemorrhage (VH) and retinal detachment (RD) cause a precipitous decline in vision in a subset of patients with X-linked retinoschisis (XLRS), an otherwise a slowly progressive condition. This study aims to report the frequency of macular and peripheral retinal findings in a large cohort of patients with XLRS and to determine whether peripheral retinal findings are associated with VH and RD.

Methods

A retrospective observational case series was performed in 65 patients with XLRS with a pathogenic variant in retinoschisin 1. Chart review included examination notes, fundus photographs and optical coherence tomography (OCT). Fisher exact tests and univariable logistic regression analysis were used to determine the association between peripheral retinal findings (including retinoschisis, metallic sheen, vascular sheathing, pigmentary changes, white spiculations and vitreous veils) and complications (including VH and RD).

Results

Seven eyes (8%) showed normal macular structure on OCT. Peripheral retinoschisis was significantly associated with both VH and RD. Out of 10 eyes with complications, 9 (90%) had peripheral retinoschisis, compared with 33 out of 116 eyes (28%) without complications (p=0.0014). In addition, each additional peripheral finding increased the odds of RD by a factor of 4.06 (95% CI 1.58 to 10.39, p=0.028). There were no complications in the 28 eyes with a normal periphery (p=0.84) or in the 35 eyes with metallic sheen (p=0.42).

Conclusion

The data suggest that patients with peripheral retinoschisis are at increased risk for VH and RD. Furthermore, patients with additional peripheral retinal findings together with peripheral schisis may carry additional risk for RD.

Retinoschisis

Fundus (uterus)

10.1136/bjophthalmol-2016-310110

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Citations (44)

Causes of cataract surgery malpractice claims in England 1995-2008

British Journal of Ophthalmology (2010)

Naser Ali B C Little

Aims

To analyse the causes of malpractice claims related specifically to cataract surgery in the National Health Service in England from 1995 to 2008.

Methods

All the malpractice claims related to cataract surgery from 1995 to 2008 from the National Health Service Litigation Authority were analysed. Claims were classified according to causative problem. Total numbers of claims, total value of damages, mean level damages and paid:closed ratio (a measure of the likelihood of a claim resulting in payment of damages) were determined for each cause.

Results

Over the 14-year period, there were 324 cataract surgery claims with total damages of £1.97 million and mean damages for a paid claim of £19 900. Negligent surgery (including posterior capsule tear and dropped nucleus) was the most frequent cause for claims, while reduced vision accounted for the highest total and mean damages. Claims relating to biometry errors/wrong intraocular lens power were the second most frequent cause of claims and result in payment of damages in 62% of closed cases. The claims with the highest paid:closed ratio were inadequate anaesthetic (75%) and complications of anaesthetic injections including globe perforation (67%).

Conclusions

Claims from cataract surgery in the NHS are extremely infrequent. Consent, though essential, may not prevent a claim arising or resulting in damages. Refractive accuracy has significant medicolegal impact. Endophthalmitis can lead to successful claims if there is delay in diagnosis. Claims relating to inadequate anaesthesia or anaesthetic injection complications are particularly hard to defend.

Cataract extraction

10.1136/bjo.2010.182774

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Citations (32)

Genetics, Clinical Characteristics, and Natural History of PDE6B-Associated Retinal Dystrophy

American Journal of Ophthalmology (2024)

Shaima Awadh Hashem Michalis Georgiou Yu Fujinami‐Yokokawa Yannik Laich Malena Daich Varela

Fundus (uterus)

10.1016/j.ajo.2024.02.005

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Citations (2)

RP2-Associated X-linked Retinopathy