Geographical Distribution of Optic Nerve Hypoplasia and Septo-optic Dysplasia in Northwest England

Patel, Leena; McNally, Richard J.Q.; Harrison, Elizabeth; Lloyd, I C; Clayton, Peter E.

doi:10.1016/j.jpeds.2005.07.031

Cited by 156 publications

(143 citation statements)

References 26 publications

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“…The association of low maternal age with SOD is not consensus 3,15,16 . A revision study of 100 patients with ONH identified association with prematurity in 21%, fetal alcohol syndrome in 9%, maternal diabetes in 6% and endocrine abnormalities in 6% 17 .…”

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confidence: 99%

“…Also known as de Morsier syndrome 2 , its relative incidence is 1/10,000 live births 3 . The SOD phenotype is highly heterogeneous, being defined by the association of two out of three features: optic nerve hypoplasia (ONH), midline abnormalities and hypothalamic-pituitary endocrine deficiencies [1][2][3][4][5][6][7][8] . Only 30% of the cases will present the complete triad 9 .…”

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confidence: 99%

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Septo-optic dysplasia

Ferran

Paiva

Gilban

et al. 2010

Arq. Neuro-Psiquiatr.

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Septo-optic dysplasia (SOD), also referred to as de Morsier syndrome, is a rare congenital condition, characterized by two of the classic triad features: midline brain abnormalities, optic nerve hypoplasia (ONH) and pituitary endocrine dysfunction. We report 5 children with SOD, originally referred to be evaluated due to short stature, who also presented bilateral optic nerve hypoplasia, nystagmus and development delay. In 4 of the patients, we identified neuroimaging abnormalities of the hypothalamo-pituitary axis such as anterior pituitary hypoplasia (3/5), ectopic posterior pituitary (4/5), thin or absent stalk (3/5) and empty sella (1/5). We also encountered diverse pituitary deficiencies: growth hormone (3/5), adrenocorticotropic hormone (3/5), thyroid-stimulating hormone (2/5) and antidiuretic hormone (1/5). Only one child presented intact pituitary function and anatomy. Although rare, SOD is an important cause of congenital hypopituitarism and it should be considered in children with optic nerve hypoplasia or midline brain abnormalities for early diagnosis and treatment. Key words: septo-optic dysplasia, optic nerve/abnormalities, hypopituitarism. Displasia septo-óptica resumoA displasia septo-óptica (DSO, síndrome de Morsier) é uma condição congênita rara definida por dois critérios da tríade: defeitos de linha média, hipoplasia de nervo óptico e insuficiência hipotálamo-hipofisária. Descrevemos 5 casos de DSO, encaminhados por baixa estatura, com hipoplasia dos nervos ópticos, nistagmo e atraso global do desenvolvimento. Destes, 4 possuem alteração na ressonância magnética de sela túrcica e insuficiência hipotálamo-hipofisária, tendo sido observada adeno-hipófise hipoplásica (3/5), neuro-hipófise ectópica (4/5), haste afilada/ausente (3/5) e sela vazia (1/5), além de déficit dos eixos somatotrófico (3/5), adrenocorticotrófico (3/5), tireotrófico (2/5) e do hormônio antidiurético (1/5). Apenas um paciente não apresenta alteração anatômica ou funcional do eixo hipotálamo-hipofisário. Embora rara, a DSO é causa importante de hipopituitarismo congênito, devendo ser considerada em crianças com hipoplasia de nervo óptico ou defeito de linha média para seu diagnóstico e tratamento precoces, evitando seqüelas graves. Palavras-chave: displasia septo-óptica, nervo óptico/anormalidades., hipopituitarismo.

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confidence: 99%

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confidence: 99%

Septo-optic dysplasia

Ferran

Paiva

Gilban

et al. 2010

Arq. Neuro-Psiquiatr.

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“…Hypoplastic discs occur more frequently in males than females, and probably without racial predilection. The parents of children with optic disc hypoplasia tend to be young, from poorer socio-economic groups, unemployed, 27 and are smokers. 5 Measurement of the optic disc size remains difficult, but some objectivity can be introduced by comparing ratios of vessel size and optic disc size or the disc-macula to disc diameter ratio.…”

Section: Optic Nerve Hypoplasiamentioning

confidence: 99%

Developmental abnormalities of the optic nerve and chiasm

Taylor¹

2007

Eye

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Developmental anomalies of the optic nerve are an important and growing cause of lifelong visual handicap and they are often associated with systemic abnormalities. This review focuses on the ocular and systemic aspects of developmental anomalies arising from defects of fetal fissure closure and retinal ganglion cell development, and covers some other optic-disc anomalies that have systemic significance.

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“…1 The defining feature of ONH is underdevelopment of the optic nerve in one or both eyes. It is often associated with endocrine dysfunction, delays in neurocognitive development, seizures, autism, dysregulation of the hypothalamus, and neurological abnormalities.…”

Section: Introductionmentioning

confidence: 99%

Absence of age-related optic disk changes in young children with optic nerve hypoplasia

Garcia-Filion

Fink

et al. 2014

Eye

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Purpose To determine whether the ratio of optic disk diameter to disk-to-macula distance (DD/DM) in children with optic nerve hypoplasia (ONH) changes over time.Patients and methods Fifteen subjects (29 eyes) enrolled in a prospective registry study on ONH had fundus photography performed under the age of 24 months and again at 60 months. Using the ratio of the DD/DM method, the relative size of the optic disk was assessed twice for each photo by one masked expert examiner to determine whether any change in relative disk size occurred over time.Results There was no change in relative optic disk size between initial and final fundus photographs. The average ( ± SD) age at the time of initial and final fundus photography was, respectively, 11.6±5.2 months and 60.6±1.3 months. Strong concordance was noted between the average DD/DM of the initial and the final photographs (r ¼ 0.939; 95% CI: 0.893, 0.981). There was negligible difference between the individual time point measurements ( À 0.011±0.03) (95% LOA: À 0.07, 0.04). Conclusion There were no clinically significant changes in relative optic disk size over time in children with ONH; thus, DD/ DM measurements need not be adjusted by age beyond 1 year in children with this disorder.

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Geographical Distribution of Optic Nerve Hypoplasia and Septo-optic Dysplasia in Northwest England

Cited by 156 publications

References 26 publications

Septo-optic dysplasia

Septo-optic dysplasia

Developmental abnormalities of the optic nerve and chiasm

Absence of age-related optic disk changes in young children with optic nerve hypoplasia

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