The Clinical, Neuroradiographic, and Endocrinologic Profile of Patients with Bilateral Optic Nerve Hypoplasia

Siatkowski, R. Michael; Sánchez, Juan C.; Andrade, Roberto; Álvarez, A. Oteiza

doi:10.1016/s0161-6420(97)30286-3

Cited by 74 publications

(64 citation statements)

References 18 publications

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“…In accordance to the literature 4,5,7,11,19,24,25,30 , it is observed a great phenotypic variety of the endocrine manifestations on the SOD cases, varying from normal pituitary function -one case -to severe hypopituitarism -in three cases. One of the patients has isolated ADH deficiency, a rare fact according to the literature 5,26 , but with the possibility of developing other deficiencies, since the patient is still young (8 years), needing close follow up.…”

Section: Discussionsupporting

confidence: 80%

“…Pituitary hypoplasia manifests itself in different degrees of hormone deficiency, from a single hormone deficit to panhypopituitarism 4,5,7,11,19,24,25 . The deficiencies also can evolve gradually over time 7,18,25 .…”

Section: Pituitary Hormone Deficiencymentioning

confidence: 99%

“…It can be uni or bilateral, being the second more common (>70%) 6,17,19 . Most of the patients have low visual acuity and nystagmus 6,11,17,19 , 80% being considered legally blind 11 . Astigmatism is also common 6 .…”

mentioning

confidence: 99%

“…The magnetic resonance imaging (MRI) findings are heterogeneous including morphological anomalies of the cortex and malrotation of the hippocampus 19 . About half of the patients have absence of the septum pellucidum and/or of the corpus callosum 11 . Neuroradiological anomalies are present in up to 75-80% of the patients with ONH, rising to 90% in those with associated neurological deficits 8,20 .…”

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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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Section: Discussionsupporting

confidence: 80%

Section: Pituitary Hormone Deficiencymentioning

confidence: 99%

mentioning

confidence: 99%

mentioning

confidence: 99%

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Septo-optic dysplasia

Ferran

Paiva

Gilban

et al. 2010

Arq. Neuro-Psiquiatr.

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“…4,5,[32][33][34] Although reports of ERGs in ONH are few, they agree that flash ERGs are normal in the majority of cases. [17][18][19][20][21]34,35 However, normal ERGs are not universal and a variety of ERG abnormalities have been reported in ONH.…”

Section: Discussionmentioning

confidence: 93%

Retinal function in infants with optic nerve hypoplasia: electroretinograms to large patterns and photopic flash

McCulloch

Garcia-Filion

Boemel

et al. 2006

Eye

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Aims Optic nerve hypoplasia (ONH), which is defined as a congenital deficiency of retinal ganglion cells, may also involve more distal layers of the retina. We investigated electrophysiological function of the retina in ONH using electroretinograms (ERGs). Methods ERGs were recorded from 48 subjects (3.5-35 months) with unilateral or bilateral ONH. Pattern reversal (41 checks) was presented under chloral hydrate sedation, using an optical system to correct a cycloplegic refraction. A photopic flash stimulus was also used. Fundus photographs were used to measure the disk diameter/disk macula ratio (DD/DM), and to document other clinical signs. Eyes were classified as moderate (0.15-0.3) or severe (o0.15) ONH, and those with DD/DM greater than 0.3 were used as reference eyes. Results Pattern ERG recording was completed in 89 eyes and was detectable in 80% of eyes with ONH (61/76 tested) and in all 13 reference eyes. Photopic flash ERGs were of good quality in all eyes. The severity of ONH correlates with the amplitude of the photopic flash b-waves and with the amplitude of the N95 component of the pattern ERG (Po0.01). However, the ERGs to large patterns were well preserved (43.5 lV) in 10 of 35 eyes with severe ONH. Tortuous retinal vessels in eyes with either moderate or severe ONH were associated with smaller amplitude photopic b-waves and markedly diminished or undetectable pattern ERGs. Conclusions This study supports the hypothesis that retinal dysfunction distal to the ganglion cells is common in ONH, but is not predictable on the basis of ONH severity alone. Additionally, tortuous retinal vessels in ONH may be a sign associated with retinal dysfunction.

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