The full spectrum of persistent fetal vasculature in Aicardi syndrome: an integrated interpretation of ocular malformations

Ganesh, Anuradha; Mitra, Sandip; Koul, Roshan; Venugopalan, P

doi:10.1136/bjo.84.2.227

Cited by 21 publications

(23 citation statements)

References 12 publications

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“…The lacunae vary in size from half to three times the disk diameter and have not been documented to change in number or size over time. 22,23 They are not associated with retinal edema or subretinal fluid and in general they do not affect the vision of the affected individual unless they affect the central foveal area. Thus despite the often dramatic aspect of these lesions, total blindness is rare.…”

Section: Discussionmentioning

confidence: 99%

Ophthalmologic findings in Aicardi syndrome

Fruhman¹,

Eble²,

Gambhir³

et al. 2012

Journal of American Association for Pediatric Ophthalmology and

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Background Aicardi syndrome is a rare X-linked disorder that has been characterized classically by agenesis of the corpus callosum, seizures, and the finding of chorioretinal lacunae. This triad has been augmented more recently by central nervous system and ocular findings. The goal of this study is to determine how frequently other ophthalmologic findings are associated with Aicardi syndrome. Methods A single ophthalmologist recorded the ocular and adnexal findings of 40 girls with this disorder at the annual meeting of an Aicardi syndrome family support group. For each subject, the examiner performed facial anthropometrics, portable biomicroscopy, and, where feasible, indirect ophthalmoscopy. Results The most common findings were chorioretinal lacunae in 66 (88%) of 75 eyes and optic nerve abnormalities in 61 (81%) of 75 eyes. Other less common findings included persistent pupillary membrane in 4 (5%) of 79 eyes and anterior synechiae in 1 of 79 eyes (1%). Conclusions Although the ophthalmic hallmark and defining feature of Aicardi syndrome is the cluster of distinctive chorioretinal lacunae surrounding the optic nerve(s), the spectrum of ocular, papillary, and retinal anomalies varies widely, from nearly normal to dysplasia of the optic nerve and to severe microphthalmos.

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Section: Discussionmentioning

confidence: 99%

Ophthalmologic findings in Aicardi syndrome

Fruhman¹,

Eble²,

Gambhir³

et al. 2012

Journal of American Association for Pediatric Ophthalmology and

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show abstract

“…They are typically round or ovoid, yellowish or whitish, flat, have variable pigment at their borders and correspond with histopathologically identified areas of hypopigmented retinal pigment epithelium with overlying disorganized retina [7]. Iris and optic nerve colobomas are common, as are persistent fetal vasculature and microphthalmos [8], which are typically unilateral.…”

Section: Introductionmentioning

confidence: 99%

Laterality of Brain and Ocular Lesions in Aicardi Syndrome

Cabrera

Winn

Porco

et al. 2011

Pediatric Neurology

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This study reports a large case series of children with Aicardi syndrome. A new severity scoring system is established to assess sidedness of ocular and brain lesions. Thirty-five children were recruited from Aicardi syndrome family conferences. All children received dilated ophthalmologic exams, and brain MRI’s were reviewed. Ocular and brain MRI Aicardi lesion severity scores were devised. A linear mixed model was used to compare each side for the ocular and brain MRI severity scores of Aicardi associated disease. Twenty-six children met inclusion criteria for the study. All subjects were female, ages 3 months to 19 years. Rates per child of optic nerve coloboma, severe lacunae, and microphthalmos in one or both eyes (among those with complete fundus exams available) were 10/24 (42%), 8/22 (36%), and 7/26 (27%), respectively. Ocular and brain MRI asymmetry was found in 18% (4/22) and 58% (15/26) of subjects, respectively, with more right sided brain lesions than left (V=52, P=0.028). A significant correlation between sidedness of brain disease and microphthalmos was seen (T = 2.54, P = 0.02). This study substantiates the range and severity of Aicardi syndrome associated ophthalmologic and brain MRI lesions from prior smaller case series.

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“…2 Persistent pupillary membrane, iris synechiae, posterior polar cataract, peripapillary gliotic tufts, and persistent hyperplastic primary vitreous have also been described with Aicardi syndrome. 6 In normal ocular embryogenesis, the tunica vasculosa supplies blood from the optic disc to the lens and iris, via the hyaloid artery. This vasculature undergoes apoptosis in normal developmental involution during the fourth month of intrauterine life.…”

Section: Discussionmentioning

confidence: 99%

Aicardi syndrome associated with anterior cephalocele in a female infant

Melbourne-Chambers

Minott

Mowatt

et al. 2007

Develop Med Child Neuro

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Aicardi syndrome is a triad of abnormalities that includes total or partial agenesis of the corpus callosum, chorioretinal lacunae, and infantile spasms. This syndrome was first described in 1965. A female infant with Aicardi syndrome associated with a nasoethmoidal cephalocele is described in this report. She presented with a history of unilateral nasal discharge since birth and seizures since age 1 week. She was microcephalic and there was visual impairment. A fleshy mass of the left nostril was noted. Ophthalmological evaluation revealed left exotropia, dysplastic optic discs and retina, ‘morning glory’ appearance of the left optic disc, and bilateral chorioretinal lacunae. Magnetic resonance imaging of the brain showed absence of the corpus callosum, dysmorphic changes of the lateral ventricles, a superiorly located third ventricle, heterotopic grey matter of the frontal lobes, a left nasoethmoidal cephalocele, and closed lip schizencephaly of the left frontal lobe. This female infant developed asymmetric infantile spasms at age 8 weeks. Surgical correction of the cephalocele was declined. She developed recurrent pneumonias secondary to aspiration of feeds and died at age 8 months during one of these events.

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The full spectrum of persistent fetal vasculature in Aicardi syndrome: an integrated interpretation of ocular malformations

Cited by 21 publications

References 12 publications

Ophthalmologic findings in Aicardi syndrome

Ophthalmologic findings in Aicardi syndrome

Laterality of Brain and Ocular Lesions in Aicardi Syndrome

Aicardi syndrome associated with anterior cephalocele in a female infant

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