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Article ; Online: Disorders of the Pediatric Pupil.

Raoof, Naz

2018 Volume 58, Issue 4, Page(s) 11–22

MeSH term(s)	Child ; Humans ; Pupil Disorders/diagnosis ; Pupil Disorders/etiology
Language	English
Publishing date	2018-10-12
Publishing country	United States
Document type	Journal Article ; Review
ZDB-ID	207382-1
ISSN	1536-9617 ; 0020-8167
ISSN (online)	1536-9617
ISSN	0020-8167
DOI	10.1097/IIO.0000000000000238
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Article ; Online: Diagnosis and treatment of idiopathic intracranial hypertension.

Raoof, Naz / Hoffmann, Jan

Cephalalgia : an international journal of headache

2021 Volume 41, Issue 4, Page(s) 472–478

Abstract: Objective: To review and discuss the clinical presentation and treatment of idiopathic intracranial hypertension.: Discussion: Visual alterations and headache are the two main symptoms of idiopathic intracranial hypertension, although additional ... ...

Abstract	Objective: To review and discuss the clinical presentation and treatment of idiopathic intracranial hypertension. Discussion: Visual alterations and headache are the two main symptoms of idiopathic intracranial hypertension, although additional features including cranial nerve palsies, cognitive deficits, olfactory deficits and tinnitus are not uncommon. The headache associated with idiopathic intracranial hypertension frequently has a migrainous phenotype. The underlying cause of the disorder has not yet been elucidated. Several hypotheses have been postulated but none of them can explain the full clinical picture. Therapeutic options remain limited, focusing mainly on reduction in body weight and the reduction of CSF production with carbonic anhydrase inhibitors. Conclusion: The accurate diagnosis of idiopathic intracranial hypertension is essential as visual deterioration due to papilledema may be irreversible. Given its phenotypic similarity and frequent overlap with chronic migraine it is essential to consider idiopathic intracranial hypertension in the diagnostic workup of chronic headache; in particular, when considering its increasing prevalence. Understanding in detail the pathophysiological mechanisms behind the associated headache would also allow study of current and future therapeutic options in a structured way.
MeSH term(s)	Acetazolamide/therapeutic use ; Analgesics/therapeutic use ; Headache/diagnosis ; Headache/etiology ; Headache/therapy ; Headache Disorders ; Humans ; Intracranial Hypertension ; Migraine Disorders ; Papilledema/diagnosis ; Papilledema/etiology ; Pseudotumor Cerebri/complications ; Pseudotumor Cerebri/diagnosis ; Pseudotumor Cerebri/therapy ; Vision Disorders/complications ; Vision Disorders/therapy ; Weight Reduction Programs
Chemical Substances	Analgesics ; Acetazolamide (O3FX965V0I)
Language	English
Publishing date	2021-02-25
Publishing country	England
Document type	Journal Article ; Review
ZDB-ID	604567-4
ISSN	1468-2982 ; 0333-1024
ISSN (online)	1468-2982
ISSN	0333-1024
DOI	10.1177/0333102421997093
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Article ; Online: Inherited Optic Neuropathies: Real-World Experience in the Paediatric Neuro-Ophthalmology Clinic.

Gilhooley, Michael James / Raoof, Naz / Yu-Wai-Man, Patrick / Moosajee, Mariya

Genes

2024 Volume 15, Issue 2

Abstract: Inherited optic neuropathies affect around 1 in 10,000 people in England; in these conditions, vision is lost as retinal ganglion cells lose function or die (usually due to pathological variants in genes concerned with mitochondrial function). Emerging ... ...

Abstract	Inherited optic neuropathies affect around 1 in 10,000 people in England; in these conditions, vision is lost as retinal ganglion cells lose function or die (usually due to pathological variants in genes concerned with mitochondrial function). Emerging gene therapies for these conditions have emphasised the importance of early and expedient molecular diagnoses, particularly in the paediatric population. Here, we report our real-world clinical experience of such a population, exploring which children presented with the condition, how they were investigated and the time taken for a molecular diagnosis to be reached. A retrospective case-note review of paediatric inherited optic neuropathy patients (0-16 years) in the tertiary neuro-ophthalmology service at Moorfields Eye Hospital between 2016 and 2020 identified 19 patients. Their mean age was 9.3 ± 4.6 (mean ± SD) years at presentation; 68% were male, and 32% were female; and 26% had comorbidities, with diversity of ethnicity. Most patients had undergone genetic testing (95% (
MeSH term(s)	Humans ; Male ; Female ; Child ; Child, Preschool ; Adolescent ; Optic Atrophy, Hereditary, Leber/genetics ; Optic Atrophy, Autosomal Dominant/genetics ; Retrospective Studies ; Ophthalmology ; Optic Nerve Diseases/diagnosis ; Optic Nerve Diseases/genetics ; Optic Nerve Diseases/therapy
Language	English
Publishing date	2024-01-30
Publishing country	Switzerland
Document type	Journal Article
ZDB-ID	2527218-4
ISSN	2073-4425 ; 2073-4425
ISSN (online)	2073-4425
ISSN	2073-4425
DOI	10.3390/genes15020188
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Article ; Online: Novel gene mutation in a patient with Bietti crystalline dystrophy without corneal deposits.

Raoof, Naz / Vincent, Andrea L

Clinical & experimental ophthalmology

2017 Volume 45, Issue 4, Page(s) 421–424

Language	English
Publishing date	2017-05
Publishing country	Australia
Document type	Letter
ZDB-ID	2014008-3
ISSN	1442-9071 ; 1442-6404
ISSN (online)	1442-9071
ISSN	1442-6404
DOI	10.1111/ceo.12871
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Article ; Online: Red reflex screening in New Zealand: a large survey of practices and attitudes in the Auckland region.

Raoof, Naz / Dai, Shuan

The New Zealand medical journal

2016 Volume 129, Issue 1438, Page(s) 38–43

Abstract: Aims: Red reflex testing forms an essential part of newborn (within the first week of life) and infant (6 weeks of age) screening in New Zealand, as outlined in the Well Child/Tamariki Ora handbook. This survey of practitioners undertaking red reflex ... ...

Abstract	Aims: Red reflex testing forms an essential part of newborn (within the first week of life) and infant (6 weeks of age) screening in New Zealand, as outlined in the Well Child/Tamariki Ora handbook. This survey of practitioners undertaking red reflex screening aimed to determine current practices and attitudes of screeners, as well as any barriers to screening. Methods: A short, multiple-choice, on-line questionnaire was sent to approximately 1,500 health care professionals undertaking red reflex screening, over a 4-week period. Results: Four hundred and eighty-three survey responses were received from 267 GPs (55.4%), 153 midwives (31.7%), and 50 paediatricians (10.4%). Thirty-six respondents (7.8%) performed red reflex screening only when they had time to do so, 13 (2.8%) only undertook this when there were concerns raised by the parents. Most respondents (97.3%) used an ophthalmoscope to perform screening. Seventynine respondents (16.6%) felt they were "not sure/underconfident" at performing this test. Only 83 of 479 respondents (17.3%) had received any formal training. Conclusions: The development of an online resource or practical 'refresher' sessions would be well received and likely to improve current practices.
MeSH term(s)	Blindness/prevention & control ; Cataract/congenital ; Clinical Competence ; Guideline Adherence/statistics & numerical data ; Humans ; Infant ; Infant, Newborn ; Inservice Training ; Neonatal Screening/standards ; New Zealand ; Ophthalmoscopes ; Practice Guidelines as Topic ; Practice Patterns, Nurses'/statistics & numerical data ; Practice Patterns, Physicians'/statistics & numerical data ; Surveys and Questionnaires ; Vision Screening/standards
Language	English
Publishing date	2016-07-15
Publishing country	New Zealand
Document type	Journal Article
ZDB-ID	390590-1
ISSN	1175-8716 ; 0028-8446 ; 0110-7704
ISSN (online)	1175-8716
ISSN	0028-8446 ; 0110-7704
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Ua VI Zs.396: Show issues

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Article ; Online: Isolated inferior oblique myectomy for vertical deviations of at least 20 prism diopters in the primary position.

Raoof, Naz / Burke, John P

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

2016 Volume 20, Issue 2, Page(s) 112–116

Abstract: Purpose: To investigate the efficacy of inferior oblique (IO) myectomy in patients with primary position hyperdeviations ≥20(Δ), with unilateral IO overaction and clinically normal or minimally underacting superior oblique ductions, where excyclotorsion ...

Abstract	Purpose: To investigate the efficacy of inferior oblique (IO) myectomy in patients with primary position hyperdeviations ≥20(Δ), with unilateral IO overaction and clinically normal or minimally underacting superior oblique ductions, where excyclotorsion was not a barrier to fusion in primary position. Methods: The medical records of patients who underwent IO myectomy from 1999 to 2014 were retrospectively reviewed to identify those with primary position hyperdeviations of ≥20(Δ). Postoperative changes in vertical deviations in primary position and horizontal and vertical planes were analyzed. Results: A total of 17 patients were included. Mean follow-up was 17.3 months. At last follow-up, the mean hyperdeviation decreased in all five documented positions of gaze by 84% of the initial value, with mean reduction in the primary position vertical deviation from 26.5(Δ) to 4.1(Δ). There was rapid early reduction of deviation in all gaze positions (mean, 53%) at 2-4 weeks' follow-up, with a corresponding mean reduction of vertical deviation to 11.4(Δ). There were no overcorrections, but 5 patients (29%) had a postoperative primary position hyperdeviation of >5(Δ). Two patients (12%) required further vertical rectus surgery. Conclusions: In our patient cohort, isolated IO myectomy did not result in symptomatic overcorrections and had a reoperation rate that compares favorably to the traditional primary simultaneous two-muscle approach.
MeSH term(s)	Adult ; Eye Movements/physiology ; Follow-Up Studies ; Humans ; Ocular Motility Disorders/physiopathology ; Ocular Motility Disorders/surgery ; Oculomotor Muscles/physiopathology ; Oculomotor Muscles/surgery ; Ophthalmologic Surgical Procedures ; Reoperation ; Retrospective Studies ; Vision, Binocular/physiology ; Visual Perception/physiology
Language	English
Publishing date	2016-04
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.2015.11.009
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Zs.A 5188: Show issues

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Article ; Online: Bilateral superior rectus transposition and medial rectus recession for bilateral sixth nerve palsy.

Dai, Shuan / Bhambhwani, Vishaal / Raoof, Naz

American journal of ophthalmology case reports

2018 Volume 9, Page(s) 96–98

Abstract: Purpose: To present the results of bilateral superior rectus transposition with medial rectus recession in a case of chronic bilateral sixth nerve palsy.: Observation: Bilateral superior rectus transposition with medial rectus recession resulted in ... ...

Abstract	Purpose: To present the results of bilateral superior rectus transposition with medial rectus recession in a case of chronic bilateral sixth nerve palsy. Observation: Bilateral superior rectus transposition with medial rectus recession resulted in full correction of esotropia with resolution of horizontal diplopia, improvement in abduction, and regain of stereoacuity in our case. There was minimal limitation of adduction, with no abnormal vertical or torsional changes. Conclusion and importance: Bilateral superior rectus transposition with medial rectus recession appears to be a useful procedure for surgical treatment of bilateral sixth nerve palsy with minimal side effects. Given its potential for reduced risk of anterior segment ischemia (ASI), it may have especially good value in the select group of patients at risk for ASI. Studies with larger sample size and longer follow up are needed to further evaluate this procedure and elucidate the variables in surgical technique for superior rectus transposition.
Language	English
Publishing date	2018-01-12
Publishing country	United States
Document type	Case Reports
ISSN	2451-9936
ISSN (online)	2451-9936
DOI	10.1016/j.ajoc.2018.01.022
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Article ; Online: The Value of Fusional Convergence Amplitudes in Esodeviation Surgery Without Adjustable Sutures.

Maudgil, Anu / Raoof, Naz / Burke, John

Journal of pediatric ophthalmology and strabismus

2018 Volume 55, Issue 6, Page(s) 375–381

Abstract: Purpose: To explore the application of preoperative fusional convergence amplitudes in the selection of a target angle for non-adjustable suture strabismus surgery with deteriorated intermittent esotropia and diplopia.: Methods: Thirty-one ... ...

Abstract	Purpose: To explore the application of preoperative fusional convergence amplitudes in the selection of a target angle for non-adjustable suture strabismus surgery with deteriorated intermittent esotropia and diplopia. Methods: Thirty-one consecutive cases of presumed acquired non-accommodative, deteriorated intermittent esotropia managed surgically between 2005 and 2016 were reviewed retrospectively. For each individual, a target angle (deviation angle for which surgery was based) was selected preoperatively after analysis of fusional convergence amplitudes. Outcomes in patients selected for overcorrection at 6 meters (target angle > angle in primary position at 6 meters) were compared to those who had planned surgery based on a target angle that did not exceed their measured angle (target angle ≤ angle in primary position) at 6 meters. Results: All 31 patients achieved binocular single vision in primary position at both near and 6 meters without prisms, orthoptic therapy, or additional surgery at 4 to 6 months postoperatively. Greater mean correction in the target angle > angle in primary position group compared to the target angle ≤ angle in primary position group was observed, but this difference was not statistically significant (P = .57). Conclusions: Among this diagnostically specific cohort with intermittent esotropia with symptomatic diplopia and measurable binocular single vision preoperatively, targeted surgery based on an analysis of preexisting fusional convergence amplitudes had an outcome that compared favorably to that of documented adjustable suture strabismus surgery. [J Pediatr Ophthalmol Strabismus. 2018;55(6):375-381.].
MeSH term(s)	Adolescent ; Adult ; Aged ; Child ; Diplopia/physiopathology ; Diplopia/surgery ; Esotropia/complications ; Esotropia/physiopathology ; Esotropia/surgery ; Eye Movements/physiology ; Female ; Humans ; Male ; Middle Aged ; Oculomotor Muscles/physiopathology ; Oculomotor Muscles/surgery ; Retrospective Studies ; Sutureless Surgical Procedures/methods ; Treatment Outcome ; Vision, Binocular/physiology ; Young Adult
Language	English
Publishing date	2018-08-29
Publishing country	United States
Document type	Journal Article
ZDB-ID	800921-1
ISSN	1938-2405 ; 0191-3913
ISSN (online)	1938-2405
ISSN	0191-3913
DOI	10.3928/01913913-20180620-03
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Article ; Online: Optic nerve sheath fenestration in patients with visual failure associated with vestibular schwannoma.

Jefferis, Joanna M / Raoof, Naz / Carroll, Thomas / Salvi, Sachin M

British journal of neurosurgery

2019 Volume 33, Issue 4, Page(s) 402–408

Abstract: ... ...

Abstract	Background
MeSH term(s)	Blindness/etiology ; Blindness/physiopathology ; Blindness/surgery ; Female ; Humans ; Hydrocephalus/complications ; Hydrocephalus/surgery ; Male ; Middle Aged ; Neuroma, Acoustic/complications ; Neuroma, Acoustic/physiopathology ; Neuroma, Acoustic/surgery ; Optic Nerve/surgery ; Papilledema/etiology ; Papilledema/surgery ; Visual Fields/physiology ; Young Adult
Language	English
Publishing date	2019-03-04
Publishing country	England
Document type	Case Reports ; Journal Article ; Video-Audio Media
ZDB-ID	639029-8
ISSN	1360-046X ; 0268-8697
ISSN (online)	1360-046X
ISSN	0268-8697
DOI	10.1080/02688697.2018.1538482
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Zs.A 2210: Show issues

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Article ; Online: Genotypic and phenotypic characterisation of RP2- and RPGR-associated X-linked inherited retinal dystrophy, including female manifestations.

Kuruvilla, Shilpa E / Song, Eileen / Raoof, Naz / van Bysterveldt, Katherine / Oliver, Verity F / Hong, Sheng Chiong / Al-Taie, Rasha / Wilson, Graham / Vincent, Andrea L

Clinical & experimental ophthalmology

2023 Volume 51, Issue 4, Page(s) 300–312

Abstract: Background: With the promise of gene replacement therapy, eligible males and females with X-linked inherited retinal dystrophy (XL-IRD) should be identified.: Methods: Retrospective observational cohort study to establish the phenotypic and genotypic ...

Abstract	Background: With the promise of gene replacement therapy, eligible males and females with X-linked inherited retinal dystrophy (XL-IRD) should be identified. Methods: Retrospective observational cohort study to establish the phenotypic and genotypic spectrum of XL-IRD within New Zealand (NZ). Thirty-two probands, including 9 females, with molecularly proven XL-IRD due to RP2 or RPGR mutations, and 72 family members, of which 43 were affected, were identified from the NZ IRD Database. Comprehensive ophthalmic phenotyping, familial cosegregation, genotyping, and bioinformatics were undertaken. Main outcome measures were: RP2 and RPGR pathogenic variant spectrum, phenotype in males and females (symptoms, age of onset, visual acuity, refraction, electrophysiology, autofluorescence, retinal appearance), and genotype-phenotype correlation. Results: For 32 families, 26 unique pathogenic variants were identified; in RP2 (n = 6, 21.9% of all families), RPGR exons 1-14 (n = 10, 43.75%), and RPGR-ORF15 (n = 10, 34.3%). Three RP2 and 8 RPGR exons 1-14 variants are novel, rare, and cosegregate. Thirty-one percent of carrier females were significantly affected, with 18.5% of families initially classified as autosomal dominant. Of five Polynesian families, 80% had novel disease-causing variants. One Māori family showed keratoconus segregating with an ORF15 variant. Conclusions: Significant disease was present in 31% of genetically proven female carriers, often leading to an erroneous presumption of the inheritance pattern. Pathogenic variants in 44% of the families were in exon 1-14 of RPGR, more frequent than usually described, which may inform the gene testing algorithm. Proving cosegregation in families for novel variants and identifying affected females and males translates to optimised clinical care and potential for gene therapy.
MeSH term(s)	Female ; Humans ; Male ; DNA Mutational Analysis ; Eye Proteins/genetics ; Genetic Diseases, X-Linked/genetics ; Genotype ; GTP-Binding Proteins/genetics ; Intracellular Signaling Peptides and Proteins/genetics ; Membrane Proteins/genetics ; Mutation ; Pedigree ; Phenotype ; Retinal Dystrophies ; Retinitis Pigmentosa/genetics ; Retrospective Studies ; New Zealand
Chemical Substances	Eye Proteins ; GTP-Binding Proteins (EC 3.6.1.-) ; Intracellular Signaling Peptides and Proteins ; Membrane Proteins ; RP2 protein, human ; RPGR protein, human
Language	English
Publishing date	2023-03-15
Publishing country	Australia
Document type	Observational Study ; Journal Article
ZDB-ID	2014008-3
ISSN	1442-9071 ; 1442-6404
ISSN (online)	1442-9071
ISSN	1442-6404
DOI	10.1111/ceo.14220
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