Changing patterns in paediatric optic atrophy aetiology: 1979 to 2015

Zheng, Linda; Hyun-Jin, Helen; Sandercoe, Trent M; Jamieson, Robyn V; Grigg, John

doi:10.1111/ceo.12734

Cited by 7 publications

(7 citation statements)

References 25 publications

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“…The leading cause of OA in children was the developmental disorder of the brain and/or optic nerves. This is a change from historical series where hereditary causes were the leading cause, 7 and more recent series were tumours, 8 and premature birth 9,10 was the most common underlying cause. 17…”

Section: Discussionmentioning

confidence: 97%

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Optic atrophy in children: Current causes and diagnostic approach

Jones

Al-Hayouti

Oladiwura

et al. 2020

European Journal of Ophthalmology

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Background/aims: Optic atrophy is one of the leading causes of sight impairment in children. It frequently poses a diagnostic challenge, as it can be caused by many ocular and systemic conditions. We aimed to determine the current causes of optic atrophy at our centre and to describe the use of investigations, including molecular genetic testing. Methods: We reviewed the medical records of children with optic atrophy seen at Moorfields Eye Hospital between 2010 and 2015. We recorded demographic data, reason for referral, history, investigations and diagnosis. Results: We studied 143 cases aged below 16 years. A cause could be identified in all cases. Taking a full history was the most important part of the diagnostic workup, identifying a cause in 96 (67%) children. A developmental disorder of the brain and/or optic nerve, sometimes with retinal involvement, was the commonest cause (n = 33, 23%), followed by inheritable optic neuropathies (n = 27, 19%). Other causes included perinatal insults (n = 18, 13%), post-infectious or post-inflammatory conditions (n = 18, 13%), accidental or abusive trauma (n = 14, 10%) and inheritable retinal dystrophies (n = 13, 9%). Rare conditions included neurodegenerative disorders (n = 7, 5%), skeletal developmental disorders such as rickets (n = 4, 3%), tumours (n = 4, 3%), ischaemic events including large optic nerve head drusen (n = 4, 3%) and toxic events/metabolic conditions (n = 1, 0.7%). Conclusion: In this series, an underlying cause could be identified in all cases. Taking a comprehensive antenatal, perinatal, postnatal and family history will indicate a probable diagnosis in two-thirds of children, and targeted ancillary tests may identify the cause in most remaining cases.

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Section: Discussionmentioning

confidence: 97%

“…8 In the new millennium, complications of premature birth became the commonest cause 9 and more recently, perinatal events including prematurity. 10…”

Section: Introductionmentioning

confidence: 99%

Optic atrophy in children: Current causes and diagnostic approach

Jones

Al-Hayouti

Oladiwura

et al. 2020

European Journal of Ophthalmology

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“…More recent studies have revealed a shift in etiology with perinatal complications including prematurity emerging as the most common cause of OA. 9 , 10 , 15 This has been attributed to improved neonatal survival, albeit with significant morbidity. Although defining their pediatric groups with variable age limits, these studies exposed an evolving trend away from tumors.…”

Section: Discussionmentioning

confidence: 99%

Etiology of optic atrophy: a prospective observational study from Saudi Arabia

Mbekeani

Fattah

Poulsen

et al. 2017

Annals of Saudi Medicine

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BACKGROUNDOptic atrophy (OA) represents permanent retinal ganglion cell loss warranting study to establish etiology.OBJECTIVESTo describe neurogenic causes of OA.DESIGNProspective, observational.SETTINGTertiary care center, Riyadh, Saudi Arabia.PATIENTS AND METHODSWe included consecutive patients of all ages with OA caused by lesions affecting the visual pathways who were referred over a 9-month period (November 2013 to July 2014). Diagnosis was based on visual acuity, ophthalmoscopic features and ancillary tests. Patient demographics, results of a clinical examination, test data and etiology were recorded. For each cause of OA, both gender and age group were analyzed as potential risk factors using simple univariate logistic regression. OA associated with glaucoma and retinal diseases was excluded.MAIN OUTCOME MEASUREDescription of causes of OA.RESULTSTwo hundred and four patients and 353 eyes met inclusion criteria. The median age was 27 years (range 3 months-77 years; interquartile range, 27 years) among 111(54.4%) females and 93(45.6%) males, with no statistically significant difference in age of presentation between the genders. The majority of lesions were bilateral (n=151, 74%). Tumors were the most common cause, accounting for 127 (62.2%) cases. These occurred mostly in adults (72.4%) compared to the pediatric group (OR=3.3, 95% CI: 1.79–6.03; P<.001). Hereditary neoplasia (OR=5.55; 95% CI: 1.67–18.42; P=.005) and metabolic diseases (OR=17.57; 95% CI: 2.15–143.62; P=.007) were more common causes in the pediatric group. There were no significant associations between gender or visual acuity and etiology of OA. In developed nations, OA is frequently the result of ischemia and neuritis. We found many other causes, especially orbital and intracranial tumors.CONCLUSIONSThe frequency of tumors as the cause of OA may represent a higher incidence of aggressive tumors coupled with poor recognition/acknowledgement of symptoms and limited access, resulting in late presentations.LIMITATIONSThese findings may reflect bias from selective referrals to a tertiary center and may not represent all of Saudi Arabia.

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“…They pointed out the medical comorbidities in patients with optic atrophy. The most frequents comorbidities were hydrocephalus (20%), developmental delay (17%), seizures (16%) and cerebral palsy (14%) in their study [28]. Optic atrophy was the primary cause of SVI in 5.1% of term-born infants and 7.2% of preterm infants in our study.…”

Section: Discussionmentioning

confidence: 45%

Causes of severe visual impairment in infants and methods of management

Tunay

Üstünyurt

İdil

2020

Eye

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Objectives To examine the causes of severe visual impairment (SVI) in infants below the age of 2 years and to review management methods. Methods The data of 2657 patients followed between January 2014 and July 2019 were reviewed, and 148 (5.6%) infants who had SVI were enrolled. Data including age, gender, affected anatomical site, diagnosis, presence of any non-ophthalmological deficiencies, and methods of management were reviewed. The diagnoses were investigated in the categories of avoidable and unavoidable basis. The methods of management were analysed from the perspective of low vision habilitation. ResultsThe mean age at first eye examination was 6.61 ± 5.25 months, and 84 (56.7%) infants were male. Of the 148 infants, 69 (46.6%) were premature. Cerebral visual impairment (CVI) was the most common diagnosis in both preterm (39.1%) and term (11.4%) infants. Delayed visual maturation, optic nerve pathologies, oculocutaneous albinism, and congenital cataract were the other frequent causes. The rate of multiple disabilities was 30% in the whole group and 94% in infants with CVI. Most of the babies had a normal-appearing globe (43.3%). Retina was affected in 23.7% of the infants. Avoidable causes were identified in 79.7% of the infants. The used methods of management were optic interventions, visual stimulation therapy, medical and/or surgical treatment. Conclusions CVI was found the most common cause of SVI in both preterm and term-born infants, and the higher rate of multiple disabilities in these infants was remarkable. Optic interventions and visual stimulation therapy were the most common methods of management.

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Changing patterns in paediatric optic atrophy aetiology: 1979 to 2015

Abstract: There has been shift in the etiological profile of optic atrophy. Whilst tumours are still an important cause of paediatric optic atrophy for an Australian population, perinatal events and neurodegenerative disease are becoming more significant.

Cited by 7 publications

References 25 publications

Optic atrophy in children: Current causes and diagnostic approach

Optic atrophy in children: Current causes and diagnostic approach

Etiology of optic atrophy: a prospective observational study from Saudi Arabia

Causes of severe visual impairment in infants and methods of management

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