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Book ; Online ; E-Book: Clinical ophthalmic genetics and genomics

Black, Graeme C. M. / Ashworth, Jane L. / Sergouniotis, Panagiotis I.

2022

Author's details	edited by Graeme C. M. Black, Jane L. Shworth, Panagiotis I. Sergouniotis
Keywords	Electronic books
Language	English
Size	1 Online-Ressource (xv, 473 Seiten), Illustrationen, Diagramme
Publisher	Elsevier Academic Press
Publishing place	London
Publishing country	Great Britain
Document type	Book ; Online ; E-Book
Remark	Zugriff für angemeldete ZB MED-Nutzerinnen und -Nutzer
HBZ-ID	HT021219488
ISBN	978-0-12-813945-5 ; 9780128139448 ; 0-12-813945-5 ; 0128139447
Database	ZB MED Catalogue: Medicine, Health, Nutrition, Environment, Agriculture

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Article ; Online: Monitoring compliance to topical therapy in children and young people with uveitis.

Green, Elspeth K Y / McGrath, Orlaith / Steeples, Laura / Ashworth, Jane L

Eye (London, England)

2023 Volume 38, Issue 3, Page(s) 572–577

Abstract: Background/objectives: Uveitis in children and young people (CYP) is a rare but potentially debilitating condition. Steroid eye drops are the first step in treatment and poor compliance may result in vision-threatening complications. This study aims to ... ...

Abstract	Background/objectives: Uveitis in children and young people (CYP) is a rare but potentially debilitating condition. Steroid eye drops are the first step in treatment and poor compliance may result in vision-threatening complications. This study aims to measure compliance with prescribed eye drops prospectively in a child-specific manner. Subjects/methods: Patients aged 0-18 years attending a tertiary paediatric uveitis clinic using steroid drops were recruited. Both the CYP, and person with parental responsibility (PPR) completed questionnaires about compliance. A subgroup had bottles of Prednisolone 1% drops dispensed and weighed at the first appointment and reweighed at follow-up. The weight reduction was compared with expected weight change over the interval. Results: The study was completed by 42 patients of the 50 patients recruited. Thirty-one CYP and their respective PPR completed both questionnaires, 11 completed only one questionnaire (9 CYP, 2 PPR). Drop errors for all eye drops were reported more than "once a week" by 13/39 CYP (33.3%, 95% CI: 19.1%-50.2% of respondents), and 3/31 PPR (9.7%, CI: 19.1%-50.2% of respondents). Many PPR could not recall prescribed drop frequency (n = 13/31, 40.6%, CI: 23.7%-59.4% of respondents). Twelve patients had bottles weighed and returned. Insufficient weight reduction was found in 9 (75%, CI: 42.8%-94.5%). Within the eye drop weighing subgroup three participants (25%, CI: 5.5%-57.2%) used <50% the expected weight of drops. Conclusions: This study demonstrated poor eye drop compliance in CYP with uveitis. Self-reported compliance was unreliable in this population. Worryingly, some patients miss more than 50% of drops and may suffer sub-optimal disease control.
MeSH term(s)	Humans ; Adolescent ; Uveitis/drug therapy ; Prednisolone ; Glucocorticoids/therapeutic use ; Ophthalmic Solutions ; Weight Loss
Chemical Substances	Prednisolone (9PHQ9Y1OLM) ; Glucocorticoids ; Ophthalmic Solutions
Language	English
Publishing date	2023-11-06
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/s41433-023-02736-0
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Article ; Online: Paracentral Acute Middle Maculopathy in A Young Girl Treated with Interferon-Beta for Nasopharyngeal Carcinoma.

Giuffrè, Chiara / Syed, Sara / Pockar, Sasa / Ashworth, Jane L / Steeples, Laura R

Ocular immunology and inflammation

2022 Volume 31, Issue 3, Page(s) 589–593

Abstract: Purpose: To describe a case of interferon-beta retinopathy associated with paracentral acute middle maculopathy.: Case report: A 15-year-old girl with Epstein-Barr virus-positive advanced nasopharyngeal carcinoma WAS REFERRED with reduced visual ... ...

Abstract	Purpose: To describe a case of interferon-beta retinopathy associated with paracentral acute middle maculopathy. Case report: A 15-year-old girl with Epstein-Barr virus-positive advanced nasopharyngeal carcinoma WAS REFERRED with reduced visual acuity. Multimodal imaging findings, including optical coherence tomography angiography, at presentation and evolution following cessation of interferon therapy are presented. Conclusion: The presentation of paracentral acute middle maculopathy in this patient supports the presumed ischaemic pathogenesis in interferon retinopathy. The imaging findings provide evidence of deep capillary plexus involvement in interferon retinopathy with evolution to permanent structural damage within the inner nuclear layer.
MeSH term(s)	Female ; Humans ; Adolescent ; Retinal Vessels/pathology ; Fluorescein Angiography/methods ; Interferon-beta ; Nasopharyngeal Carcinoma/diagnosis ; Nasopharyngeal Carcinoma/drug therapy ; Nasopharyngeal Carcinoma/complications ; Epstein-Barr Virus Infections/complications ; Epstein-Barr Virus Infections/diagnosis ; Epstein-Barr Virus Infections/drug therapy ; Acute Disease ; Herpesvirus 4, Human ; Retinal Diseases/chemically induced ; Retinal Diseases/diagnosis ; Retinal Diseases/drug therapy ; Tomography, Optical Coherence/methods ; Nasopharyngeal Neoplasms/diagnosis ; Nasopharyngeal Neoplasms/drug therapy ; Nasopharyngeal Neoplasms/complications ; Macular Degeneration
Chemical Substances	Interferon-beta (77238-31-4)
Language	English
Publishing date	2022-02-24
Publishing country	England
Document type	Case Reports ; Journal Article
ZDB-ID	1193873-0
ISSN	1744-5078 ; 0927-3948
ISSN (online)	1744-5078
ISSN	0927-3948
DOI	10.1080/09273948.2022.2032194
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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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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

2023 Volume 14, Issue 4

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:
MeSH term(s)	Humans ; Child ; Child, Preschool ; Ectopia Lentis/genetics ; Ectopia Lentis/surgery ; Retrospective Studies ; Genetic Testing ; Marfan Syndrome/diagnosis ; Marfan Syndrome/genetics ; Marfan Syndrome/surgery ; Lens, Crystalline ; Latent TGF-beta Binding Proteins/genetics
Chemical Substances	LTBP2 protein, human ; Latent TGF-beta Binding Proteins
Language	English
Publishing date	2023-03-25
Publishing country	Switzerland
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	2527218-4
ISSN	2073-4425 ; 2073-4425
ISSN (online)	2073-4425
ISSN	2073-4425
DOI	10.3390/genes14040791
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Article ; Online: Ocular manifestations as key features for diagnosing mucopolysaccharidoses.

Summers, C Gail / Ashworth, Jane L

Rheumatology (Oxford, England)

2011 Volume 50 Suppl 5, Page(s) v34–40

Abstract: Diagnosis of mucopolysaccharidosis (MPS) requires awareness of the multisystem disease manifestations and their diverse presentation in terms of time of onset and severity. Many patients with MPS remain undiagnosed for years and progressively develop ... ...

Abstract	Diagnosis of mucopolysaccharidosis (MPS) requires awareness of the multisystem disease manifestations and their diverse presentation in terms of time of onset and severity. Many patients with MPS remain undiagnosed for years and progressively develop irreversible pathologies, which ultimately lead to premature death. To foster timely treatment and ensure a better outcome, it is of utmost importance to recognize and evaluate the typical ocular features that present fairly early in the course of the disease in many children with MPS. These include corneal clouding, ocular hypertension/glaucoma, retinal degeneration, optic disc swelling and optic nerve atrophy. Other associations include pseudo-exophthalmos, amblyopia, strabismus and large refractive errors requiring spectacle correction. While some ocular manifestations require specialized equipment for detecting abnormalities, light sensitivity, pseudo-exophthalmos and strabismus are often apparent on a routine physical examination. In addition, patients may be symptomatic from vision impairment, photosensitivity, night blindness and visual field constriction. Combined with the skeletal/joint complications and other manifestations, these ocular features are key in the differential diagnosis of children with joint abnormalities. Rheumatologists should have a high index of suspicion for MPS to facilitate early diagnosis. Referral to a geneticist, a metabolic specialist or physician who specializes in MPS can confirm the diagnosis and provide disease management. Consultation with an ophthalmologist who has expertise in MPS is also needed for thorough examination of the eyes and regular follow-up care.
MeSH term(s)	Child, Preschool ; Diagnosis, Differential ; Early Diagnosis ; Eye Diseases/diagnosis ; Eye Diseases/etiology ; Female ; Follow-Up Studies ; Humans ; Joint Diseases/diagnosis ; Mucopolysaccharidoses/complications ; Mucopolysaccharidoses/diagnosis
Language	English
Publishing date	2011-12
Publishing country	England
Document type	Case Reports ; Journal Article ; Research Support, Non-U.S. Gov't ; Review
ZDB-ID	1464822-2
ISSN	1462-0332 ; 1462-0324
ISSN (online)	1462-0332
ISSN	1462-0324
DOI	10.1093/rheumatology/ker392
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Article ; Online: Atypical presentation of CRB1 retinopathy.

Morarji, Jiten / Lenassi, Eva / Black, Graeme C M / Ashworth, Jane L

Acta ophthalmologica

2016 Volume 94, Issue 6, Page(s) e513–4

MeSH term(s)	Arthritis, Juvenile/diagnosis ; Electroretinography ; Eye Diseases, Hereditary/diagnosis ; Eye Diseases, Hereditary/genetics ; Eye Proteins/genetics ; Humans ; Infant ; Macular Edema/diagnosis ; Male ; Membrane Proteins/genetics ; Mutation, Missense ; Nerve Tissue Proteins/genetics ; Polymerase Chain Reaction ; Retinal Dystrophies/diagnosis ; Retinal Dystrophies/genetics ; Tomography, Optical Coherence
Chemical Substances	CRB1 protein, human ; Eye Proteins ; Membrane Proteins ; Nerve Tissue Proteins
Language	English
Publishing date	2016-09
Publishing country	England
Document type	Case Reports ; Letter
ZDB-ID	2408333-1
ISSN	1755-3768 ; 1755-375X
ISSN (online)	1755-3768
ISSN	1755-375X
DOI	10.1111/aos.12997
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Article ; Online: Craniofacial linear scleroderma associated with retinal telangiectasia and exudative retinal detachment.

Lenassi, Eva / Vassallo, Grace / Kehdi, Elias / Chieng, Alice S / Ashworth, Jane L

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

2017 Volume 21, Issue 3, Page(s) 251–254

Abstract: Linear scleroderma is a characteristic form of scleroderma that typically affects children. Ocular manifestations may be present, especially when the frontoparietal area of the head is affected. We present the case of a 5-year-old boy with craniofacial ... ...

Abstract	Linear scleroderma is a characteristic form of scleroderma that typically affects children. Ocular manifestations may be present, especially when the frontoparietal area of the head is affected. We present the case of a 5-year-old boy with craniofacial linear scleroderma ("en coup de sabre") who developed exudative retinal detachment. Angiographic and neuroimaging findings are presented, and the importance of regular fundus examination is highlighted.
Language	English
Publishing date	2017-06
Publishing country	United States
Document type	Journal Article
ZDB-ID	1412476-2
ISSN	1528-3933 ; 1091-8531
ISSN (online)	1528-3933
ISSN	1091-8531
DOI	10.1016/j.jaapos.2016.12.004
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Article ; Online: Optic neuropathy in methylmalonic acidemia and propionic acidemia.

Martinez Alvarez, Lidia / Jameson, Elisabeth / Parry, Neil R A / Lloyd, Chris / Ashworth, Jane L

The British journal of ophthalmology

2016 Volume 100, Issue 1, Page(s) 98–104

Abstract: Background: Methylmalonic acidemia (MMA) and propionic acidemia (PA) are rare hereditary disorders of protein metabolism, manifesting early in life with ketoacidosis and encephalopathy and often resulting in chronic complications. Optic neuropathy (ON) ... ...

Abstract	Background: Methylmalonic acidemia (MMA) and propionic acidemia (PA) are rare hereditary disorders of protein metabolism, manifesting early in life with ketoacidosis and encephalopathy and often resulting in chronic complications. Optic neuropathy (ON) has been increasingly recognised in both conditions, mostly through isolated case reports or small cases series. We here report the clinical features and visual outcomes of a case series of paediatric patients with a diagnosis of MMA or PA. Methods: Retrospective observational case series. A database of patients attending the Willink Biochemical Genetics unit in Manchester was interrogated. Fifty-three patients had a diagnosis of either isolated MMA or PA, of which 12 had been referred for ophthalmic review. Results: Seven patients had clinical findings compatible with ON. Visual outcomes in these patients were poor, with slow clinical progression or stability over time in five cases with follow-up. Presentation was acute in a context of metabolic crisis in two of the cases. Four patients with ON had electrodiagnostics showing absent pattern evoked potentials, with one showing a preserved flash response. All four showed marked attenuation of the dark-adapted electroretinogram with better preservation of the light-adapted response. Conclusions: Our study suggests that ON is under-reported in patients with MMA and PA. Clinical presentation can be acute or insidious, and episodes of acute metabolic decompensation appear to trigger visual loss. Photoreceptor involvement may coexist. Active clinical surveillance of affected patients is important as comorbidities and cognitive impairment may delay diagnosis.
MeSH term(s)	Adolescent ; Amino Acid Metabolism, Inborn Errors/complications ; Child ; Electroretinography ; Evoked Potentials, Visual ; Female ; Humans ; Male ; Optic Disk/pathology ; Optic Nerve Diseases/diagnosis ; Optic Nerve Diseases/etiology ; Propionic Acidemia/complications ; Tomography, Optical Coherence
Language	English
Publishing date	2016-01
Publishing country	England
Document type	Journal Article ; Review
ZDB-ID	80078-8
ISSN	1468-2079 ; 0007-1161
ISSN (online)	1468-2079
ISSN	0007-1161
DOI	10.1136/bjophthalmol-2015-306798
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Article ; Online: Congenital and infantile cataract: aetiology and management.

Chan, Wai H / Biswas, Susmito / Ashworth, Jane L / Lloyd, I Christopher

European journal of pediatrics

2012 Volume 171, Issue 4, Page(s) 625–630

Abstract: Congenital cataract is the commonest worldwide cause of lifelong visual loss in children. Although congenital cataracts have a diverse aetiology, in many children, a cause is not identified; however, autosomal dominant inheritance is commonly seen. Early ...

Abstract	Congenital cataract is the commonest worldwide cause of lifelong visual loss in children. Although congenital cataracts have a diverse aetiology, in many children, a cause is not identified; however, autosomal dominant inheritance is commonly seen. Early diagnosis either on the post-natal ward or in the community is important because appropriate intervention can result in good levels of visual function. However, visual outcome is largely dependent on the timing of surgery when dense cataracts are present. Good outcomes have been reported in children undergoing surgery before 6 weeks of age in children with unilateral cataract and before 10 weeks of age in bilateral cases. Placement of an artificial intraocular lens implant after removal of the cataract has become established practice in children over 2 years of age. There remains debate over the safety and predictability of intraocular lens implantation in infants. Despite early surgery and aggressive optical rehabilitation, children may still develop deprivation amblyopia, nystagmus, strabismus, and glaucoma. The diagnosis and management of congenital cataracts has improved substantially over the past 30 years with a concurrent improvement in outcomes for affected children. Many aspects of the pre-, intra-, and postoperative management of these patients continue to be refined, highlighting the need for good quality data and prospective collaborative studies in this field.
MeSH term(s)	Amblyopia/prevention & control ; Amblyopia/therapy ; Cataract/complications ; Cataract/congenital ; Cataract/etiology ; Cataract/therapy ; Humans ; Lens Implantation, Intraocular ; Pseudophakia ; Visual Acuity
Language	English
Publishing date	2012-03-01
Publishing country	Germany
Document type	Journal Article ; Review
ZDB-ID	194196-3
ISSN	1432-1076 ; 0340-6199 ; 0943-9676
ISSN (online)	1432-1076
ISSN	0340-6199 ; 0943-9676
DOI	10.1007/s00431-012-1700-1
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