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Article: Retinopathy of prematurity: from oxygen management to molecular manipulation.

Woods, Jonathan / Biswas, Susmito

2023 Volume 10, Issue 1, Page(s) 12

Abstract: Introduction: Retinopathy of prematurity (ROP) is a vasoproliferative disorder of the premature retina with the potential to progress to extraretinal neovascularisation. This review serves as an introduction to retinopathy of prematurity (ROP), ... ...

Abstract	Introduction: Retinopathy of prematurity (ROP) is a vasoproliferative disorder of the premature retina with the potential to progress to extraretinal neovascularisation. This review serves as an introduction to retinopathy of prematurity (ROP), outlining key parts of ROP pathophysiology, diagnosis and treatment. ROP is traditionally diagnosed by indirect ophthalmoscopy and classified using anatomical zones, stages of disease, and the presence or absence of "plus disease" (dilation and tortuosity of the major retinal arterioles and venules). ROP has a bi-phasic pathophysiology: initial hyperoxia causes reduced retinal vascularisation, followed by pathological vaso-proliferation resulting from subsequent hypoxia and driven by vascular endothelial growth factor (VEGF). Advancements in management: This review summarises previous trials to establish optimum oxygen exposure levels in newborns and more recently the development of anti-VEGF agents locally delivered to block pathological neovascularisation, which is technically easier to administer and less destructive than laser treatment. Future directions: There remains an ongoing concern regarding the potential unwanted systemic effects of intravitreally administered anti-VEGF on the overall development of the premature baby. Ongoing dosing studies may lessen these fears by identifying the minimally effective dose required to block extraretinal neovascularisation.
Language	English
Publishing date	2023-09-15
Publishing country	Germany
Document type	Journal Article ; Review
ZDB-ID	2785551-X
ISSN	2194-7791
ISSN	2194-7791
DOI	10.1186/s40348-023-00163-5
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Article ; Online: Corneal Densitometry to Assess the Corneal Cystine Deposits in Patients With Cystinosis.

Biswas, Susmito / Alzahrani, Khaled / Radhakrishnan, Hema

Cornea

2022 Volume 42, Issue 3, Page(s) 313–319

Abstract: Purpose: The purpose of this study was to assess the suitability of corneal densitometry measurements obtained with Scheimpflug imaging in estimating the corneal changes caused by cystine deposits in the cornea in patients with cystinosis.: Methods: ... ...

Abstract	Purpose: The purpose of this study was to assess the suitability of corneal densitometry measurements obtained with Scheimpflug imaging in estimating the corneal changes caused by cystine deposits in the cornea in patients with cystinosis. Methods: Scheimpflug imaging (Pentacam) was performed for 14 patients with cystinosis and 16 age-matched controls. Pentacam data were used for analysis of the corneal densitometry at different zones in the cornea for patients with cystinosis and controls. Densitometry measurements were compared with the corneal crystal scores obtained from the slitlamp images for patients with cystinosis. Results: There was no statistically significant difference in keratometry measurements between the 2 groups ( P > 0.05). Corneal thickness was found to be significantly higher in the control group when compared with the cystinosis group ( P = 0.0004). The mean corneal densitometry was significantly higher in patients with cystinosis when compared with controls at most of the corneal layers and zones. The corneal densitometry readings for the right and left eyes showed moderate positive correlation with the corneal crystal score with a ceiling effect being reached at the maximum corneal crystal score of 3. Conclusions: Corneal densitometry obtained through Pentacam can be used as an objective estimate of the level of cystine crystals present in patients with cystinosis. The clinical estimate of corneal crystal score, although effective at low levels of crystal deposition, does not allow for accurate estimates of change when the level of crystal deposition is high leading to limited utility when assessing treatment effects. Hence, densitometry measurements can potentially be used to assess treatment efficacy of cystinosis treatments in clinical settings.
MeSH term(s)	Humans ; Cystine/therapeutic use ; Cystinosis/diagnosis ; Cystinosis/drug therapy ; Cornea ; Treatment Outcome ; Densitometry ; Corneal Topography
Chemical Substances	Cystine (48TCX9A1VT)
Language	English
Publishing date	2022-12-12
Publishing country	United States
Document type	Journal Article
ZDB-ID	604826-2
ISSN	1536-4798 ; 0277-3740
ISSN (online)	1536-4798
ISSN	0277-3740
DOI	10.1097/ICO.0000000000003161
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Article ; Online: Validation of the East London Retinopathy of Prematurity algorithm to detect treatment-warranted retinopathy of prematurity: a cohort study.

Moorthy, Sonia / Adams, Gillian G W / Smith, Graham / Biswas, Susmito / Aliyan, Waleed / Bhudia, Roshni / Saiyed, Aamir / Husain, Shad

The British journal of ophthalmology

2024 Volume 108, Issue 3, Page(s) 471–475

Abstract: Aim: To validate the East London Retinopathy of Prematurity algorithm (EL-ROP) in a cohort of infants at risk of developing retinopathy of prematurity (ROP).: Methods: The EL-ROP algorithm was applied retrospectively to routinely collected data from ... ...

Abstract	Aim: To validate the East London Retinopathy of Prematurity algorithm (EL-ROP) in a cohort of infants at risk of developing retinopathy of prematurity (ROP). Methods: The EL-ROP algorithm was applied retrospectively to routinely collected data from two tertiary neonatal units in England on infants eligible for ROP screening. The EL-ROP recommendation, to screen or not, was compared with the development of treatment-warranted ROP (TW-ROP) for each infant. The main outcome measures were (1) EL-ROP's sensitivity for predicting the future development of TW-ROP and (2) potential to reduce ROP screening examinations. Results: Data from 568 infants were included in the trial. The median (IQR) birth weight (g) was 875 (704 - 1103) and gestational age (weeks) was 27.0 (25.4 - 29.0). Maternal ethnicity was black (33%) and non-black (67%). 58(10%) developed TW-ROP and in every case this was predicted by the EL-ROP algorithm. It's sensitivity was 100% (95% CI 94-100%) specificity: 44% (95% CI 39-48%) positive predictive value: 17% (95%CI 16-18%), negative predictive value: 100%. Conclusions: EL-ROP has been validated in a cohort of infants from two tertiary neonatal units in England. Further validation is required before its clinical usefulness can be assessed.
MeSH term(s)	Infant, Newborn ; Infant ; Humans ; Cohort Studies ; Retinopathy of Prematurity/diagnosis ; Retrospective Studies ; London/epidemiology ; Neonatal Screening ; Birth Weight ; Gestational Age ; Algorithms ; Risk Factors
Language	English
Publishing date	2024-02-21
Publishing country	England
Document type	Journal Article
ZDB-ID	80078-8
ISSN	1468-2079 ; 0007-1161
ISSN (online)	1468-2079
ISSN	0007-1161
DOI	10.1136/bjo-2022-322522
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Article ; Online: Abusive head trauma and the eye in infants and children - clinical guideline update by the royal college of ophthalmologists and the royal college of paediatrics and child health: executive summary.

Watts, Patrick / Adams, Gillian / Biswas, Susmito / Davis, Paul / Leach, Paul / Lloyd, I Christopher / McPartland, Jo / Mulvihill, Alan

Eye (London, England)

2024

Language	English
Publishing date	2024-03-05
Publishing country	England
Document type	Editorial
ZDB-ID	91001-6
ISSN	1476-5454 ; 0950-222X
ISSN (online)	1476-5454
ISSN	0950-222X
DOI	10.1038/s41433-024-02977-7
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Article: The Ocular Status of Cystinosis Patients Receiving a Hospital Pharmacy-Made Preparation of Cysteamine Eye Drops: A Case Series.

Biswas, Susmito / Sornalingam, Krishanthy

Ophthalmology and therapy

2018 Volume 8, Issue 1, Page(s) 125–136

Abstract: Introduction: Infantile nephropathic cystinosis (INC) is an autosomal recessive lysosomal disorder in which patients develop deposits of cystine crystals in their kidneys and corneas from a young age.: Methods: We conducted a retrospective analysis ... ...

Abstract	Introduction: Infantile nephropathic cystinosis (INC) is an autosomal recessive lysosomal disorder in which patients develop deposits of cystine crystals in their kidneys and corneas from a young age. Methods: We conducted a retrospective analysis of children with INC seen by ophthalmologists at the Manchester Royal Eye Hospital between 2002 and 2018, to evaluate clinical findings, symptoms and treatment. Results: Twenty-two children diagnosed with INC from age 0 (prenatally) to 11 years were assessed. All evaluable patients had corneal cystine crystal deposits, and 15 had mild to moderate photophobia. Ten patients had other ocular conditions including blepharitis/chalzion (n = 6), swollen optic nerve (n = 3), punctate epitheliopathy (n = 3), corneal scarring (n = 1),and elevated intraocular pressure (n = 2). Confocal imaging identified nerve abnormalities in two patients (enlarged corneal nerve + abnormal-looking tortuous nerves in one patient and beaded nerves in the sub-basal plexus in the other), both of whom had significant crystal deposition in the anterior stroma. Visual acuity was relatively unaffected. All 22 patients were receiving oral cysteamine, and 21 were applying cysteamine eye drops (galenic preparation of 0.55% concentration, compounded by a hospital pharmacy). Recommended application frequency was at least eight times per day in all patients with dosing information available. Conclusions: This case series of patients with INC highlights the consistent pattern of corneal cystine crystal deposition, which is universally present from a young age in this condition, and the high incidence of photophobia even in young children. Corneal manifestations of INC persisted despite frequent administration of the hospital pharmacy-made eye drop preparation. Reasons for this lack of efficacy may include the lag period between diagnosis and first prescription of cysteamine eye drops and the difficulty in maintaining rigorous compliance with this treatment. In addition, the challenge for patients of maintaining optimal storage conditions may adversely affect the stability and efficacy of cysteamine within this preparation. Funding: Editorial assistance was funded by Orphan Europe Ltd.
Language	English
Publishing date	2018-12-05
Publishing country	England
Document type	Journal Article
ISSN	2193-8245
ISSN	2193-8245
DOI	10.1007/s40123-018-0156-4
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Article ; Online: The Royal College of Paediatrics and Child Health Retinopathy of Prematurity Screening Guidelines (2022): a series of treated infants falling outside the updated criteria.

Aulakh, Simranjeet / Houtman, Anne Cees / Rathod, Dinesh / Biswas, Susmito / McLoone, Eibhlin / Shafiq, Ayad E / Nassar, Mahmoud M / Connor, Alan J / Hillier, Roxane J

Eye (London, England)

2024

Abstract: Background/objectives: Screening for retinopathy of prematurity (ROP) is a core healthcare intervention in premature babies to avoid preventable sight loss. A variety of screening criteria are in place globally for this purpose. The Royal College of ... ...

Abstract	Background/objectives: Screening for retinopathy of prematurity (ROP) is a core healthcare intervention in premature babies to avoid preventable sight loss. A variety of screening criteria are in place globally for this purpose. The Royal College of Paediatrics and Child Health recently updated the United Kingdom ROP screening guidelines (March 2022). A key change was the reduction in the gestational age (GA) to warrant retinal screening (from 32 to 31 weeks). Subjects/methods: In the course of informal national surveillance during guideline development (2017-2022) and soon after, babies under our care falling outside the updated screening criteria who underwent treatment for ROP were identified. A retrospective case review was carried out. Results: Six babies were identified as having undergone screening and treatment, prior to implementation of the new guidance. Screening and treatment would have been forfeited as per the March 2022 guidelines. All six had numerous systemic risk factors for developing ROP. Specifically, all had documented poor postnatal weight gain. Conclusions: We present this case series to bring forth an urgent discussion amongst key stakeholders as to whether the new guidance, as it stands, is safe and fit for purpose.
Language	English
Publishing date	2024-04-24
Publishing country	England
Document type	Journal Article
ZDB-ID	91001-6
ISSN	1476-5454 ; 0950-222X
ISSN (online)	1476-5454
ISSN	0950-222X
DOI	10.1038/s41433-024-03076-3
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Article ; Online: Macular fibrosis in Coats' disease demonstrated by Optical Coherence Tomography Angiography - new data toward pathophysiology.

Chwiejczak, Katarzyna / Biswas, Susmito / Tsamis, Emmanouil / Siso-Fuertes, Irene / Kasbia, Shakti / Stanga, Paulo E

European journal of ophthalmology

2021 Volume 31, Issue 6, Page(s) 3157–3163

Abstract: Purpose: To analyze if Segmented Swept-Source Optical Coherence Tomography Angiography (SS OCT-A) can provide additional information on morphology and pathophysiology of macular fibrosis in Coats' patients.: Methods: A consecutive case series of ... ...

Abstract	Purpose: To analyze if Segmented Swept-Source Optical Coherence Tomography Angiography (SS OCT-A) can provide additional information on morphology and pathophysiology of macular fibrosis in Coats' patients. Methods: A consecutive case series of three male patients (5, 7 and 15 years old), with Coats' disease-related macular fibrosis (stage 2b-2 patients, 3b-1 patient). SS OCT-A 3×3 mm macular scans of affected eyes were performed. Results: In all three cases the inner portion of macular fibrosis displayed a dense network of vessels, continuing into deeper layers. This structure was similar to that observed in retinal angiomatous proliferations (RAP). There was associated loss of the foveal avascular zone. In one case we observed evolution of the lesion. Conclusion: SS-OCT imaging of macular fibrosis in Coats' disease reveals a distinct intralesional vascular structure with elements resembling RAP, probably developing as a secondary process.
MeSH term(s)	Adolescent ; Child ; Fibrosis ; Fluorescein Angiography ; Humans ; Macula Lutea/pathology ; Male ; Retinal Telangiectasis/diagnosis ; Retinal Vessels/diagnostic imaging ; Retinal Vessels/pathology ; Tomography, Optical Coherence
Language	English
Publishing date	2021-01-09
Publishing country	United States
Document type	Journal Article
ZDB-ID	1089461-5
ISSN	1724-6016 ; 1120-6721
ISSN (online)	1724-6016
ISSN	1120-6721
DOI	10.1177/1120672120986366
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Article ; Online: Expanding the phenotypic spectrum of pathogenic variants in the PRRT2 gene: bilateral papilledema and abducens nerve palsies secondary to pseudotumor cerebri syndrome.

Ng, Jonathan K Y / Sadia, Rehana / Ram, Dipak / Jones, Elizabeth A / Biswas, Susmito

Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus

2021 Volume 25, Issue 6, Page(s) 364–366

Abstract: An 8-year-old girl with known pathogenic variant in the PRRT2 gene causing paroxysmal kinesigenic dyskinesia with infantile convulsions presented with bilateral papilledema and abducens nerve palsy, which was subsequently confirmed to be pseudotumor ... ...

Abstract	An 8-year-old girl with known pathogenic variant in the PRRT2 gene causing paroxysmal kinesigenic dyskinesia with infantile convulsions presented with bilateral papilledema and abducens nerve palsy, which was subsequently confirmed to be pseudotumor cerebri syndrome (PTCS). She was treated with acetazolamide and recovered baseline vision, with some residual papilledema. PTCS is not confirmed to be associated with pathogenic variants in the PRRT2 gene; however, this case in conjunction with a previously reported case of PTCS and unilateral abducens nerve palsy in a patient with PRRT2 variants, raises the possibility that PTCS is part of the phenotypic spectrum rather than being a coincidental occurrence.
MeSH term(s)	Abducens Nerve Diseases/etiology ; Abducens Nerve Diseases/genetics ; Child ; Female ; Humans ; Membrane Proteins/genetics ; Nerve Tissue Proteins/genetics ; Papilledema/diagnosis ; Papilledema/etiology ; Pseudotumor Cerebri/complications ; Pseudotumor Cerebri/diagnosis ; Pseudotumor Cerebri/drug therapy
Chemical Substances	Membrane Proteins ; Nerve Tissue Proteins ; PRRT2 protein, human
Language	English
Publishing date	2021-08-31
Publishing country	United States
Document type	Case Reports
ZDB-ID	1412476-2
ISSN	1528-3933 ; 1091-8531
ISSN (online)	1528-3933
ISSN	1091-8531
DOI	10.1016/j.jaapos.2021.07.002
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Article ; Online: Management of Vernal Keratoconjunctivitis in Children in the United Kingdom: A Review of the Literature and Current Best Practice Across Six Large United Kingdom Centers.

Ghauri, Abdul-Jabbar / Biswas, Susmito / Manzouri, Bita / Barua, Ankur / Sharma, Vibha / Hoole, Janice / Dahlmann-Noor, Annegret

Journal of pediatric ophthalmology and strabismus

2022 Volume 60, Issue 1, Page(s) 6–17

Abstract: Vernal keratoconjunctivitis (VKC) is a form of ocular allergy primarily affecting children. Considered a rare disease in Europe, its prevalence varies by geographic region and is poorly studied in the United Kingdom. There is considerable national ... ...

Abstract	Vernal keratoconjunctivitis (VKC) is a form of ocular allergy primarily affecting children. Considered a rare disease in Europe, its prevalence varies by geographic region and is poorly studied in the United Kingdom. There is considerable national variation in the management of VKC within the United Kingdom, risking misdiagnosis and delays to treatment for some children. This can significantly impact their quality of life, with the potential for lasting negative consequences. Based on discussions between experienced clinicians from six large centers across the United Kingdom, this article describes best practice recommendations for United Kingdom settings, including principles for diagnosis, referral, initial and long-term management, and supportive care. Recommendations include guidance on referral timing, which should depend on VKC severity, and a stepwise approach to treatment. Joint management by primary care and secondary care is recommended and the importance of supportive care, including emotional support and outreach to schools, is highlighted. Because frequent flareups are common in VKC, it is essential that families have access to the information they need to manage the disease and routes to access rapid care if needed. A thorough understanding of the nature of VKC, its triggers, and how best to manage it, by both patients and their families, is critical to ensuring appropriate management and to improving patient outcomes.
MeSH term(s)	Humans ; Child ; Conjunctivitis, Allergic/diagnosis ; Conjunctivitis, Allergic/epidemiology ; Conjunctivitis, Allergic/therapy ; Quality of Life ; Eye ; United Kingdom/epidemiology ; Prevalence
Language	English
Publishing date	2022-05-25
Publishing country	United States
Document type	Journal Article ; Review
ZDB-ID	800921-1
ISSN	1938-2405 ; 0191-3913
ISSN (online)	1938-2405
ISSN	0191-3913
DOI	10.3928/01913913-20220328-01
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Article ; Online: The Role of Genetic Testing in Children Requiring Surgery for Ectopia Lentis

Musleh, Mohammud / Bull, Adam / Linton, Emma / Liu, Jingshu / Waller, Sarah / Hardcastle, Claire / Clayton-Smith, Jill / Sharma, Vinod / Black, Graeme C. / Biswas, Susmito / Ashworth, Jane L. / Sergouniotis, Panagiotis I.

Genes (Basel). 2023 Mar. 25, v. 14, no. 4

2023

Abstract: Non-traumatic ectopia lentis can be isolated or herald an underlying multisystemic disorder. Technological advances have revolutionized genetic testing for many ophthalmic disorders, and this study aims to provide insights into the clinical utility of ... ...

Abstract	Non-traumatic ectopia lentis can be isolated or herald an underlying multisystemic disorder. Technological advances have revolutionized genetic testing for many ophthalmic disorders, and this study aims to provide insights into the clinical utility of genetic analysis in paediatric ectopia lentis. Children that underwent lens extraction for ectopia lentis between 2013 and 2017 were identified, and gene panel testing findings and surgical outcomes were collected. Overall, 10/11 cases received a probable molecular diagnosis. Genetic variants were identified in four genes: FBN1 (associated with Marfan syndrome and cardiovascular complications; n = 6), ADAMTSL4 (associated with non-syndromic ectopia lentis; n = 2), LTBP2 (n = 1) and ASPH (n = 1). Parents appeared unaffected in 6/11 cases; the initial presentation of all six of these children was to an ophthalmologist, and only 2/6 had FBN1 variants. Notably, 4/11 cases required surgery before the age of 4 years, and only one of these children carried an FBN1 variant. In summary, in this retrospective cohort study, panel-based genetic testing pointed to a molecular diagnosis in >90% of paediatric ectopia lentis cases requiring surgery. In a subset of study participants, genetic analysis revealed changes in genes that have not been linked to extraocular manifestations and highlighted that extensive systemic investigations were not required in these individuals. We propose the introduction of genetic testing early in the diagnostic pathway in children with ectopia lentis.
Keywords	cohort studies ; genes ; genetic analysis ; surgery
Language	English
Dates of publication	2023-0325
Publishing place	Multidisciplinary Digital Publishing Institute
Document type	Article ; Online
ZDB-ID	2527218-4
ISSN	2073-4425
ISSN	2073-4425
DOI	10.3390/genes14040791
Database	NAL-Catalogue (AGRICOLA)

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