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Journal articles on the topic 'Chorioretinal lacunae'

Author: Grafiati

Published: 2 June 2025

Last updated: 31 July 2025

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1

Sinha, Ayushi, and Anamika Nath. "Chorioretinal lacunae." Indian Journal of Ophthalmology - Case Reports 3, no. 2 (2023): 636. http://dx.doi.org/10.4103/ijo.ijo_165_23.

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2

Tripathy, Koushik, Rohan Chawla, and Divya Betala. "Seizures and chorioretinal lacunae in an infant." Journal of Paediatrics and Child Health 53, no. 9 (2017): 919. http://dx.doi.org/10.1111/jpc.1_13465.

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3

ITURRALDE, DIANA, CATHERINE B. MEYERLE, and LAWRENCE A. YANNUZZI. "Aicardi Syndrome: Chorioretinal Lacunae Without Corpus Callosum Agenesis." Retina 26, no. 8 (2006): 977–78. http://dx.doi.org/10.1097/01.iae.0000224937.78389.15.

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4

International, Journal of Medical Science and Innovative Research (IJMSIR). "A case report on Aicardi Syndrome." International Journal of Medical Science and Innovative Research (IJMSIR) 9, no. 4 (2024): 03–08. https://doi.org/10.5281/zenodo.15422265.

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<strong>Abstract</strong> Aicardi syndrome is a genetic disorder linked to the X chromosome, predominantly affecting females. Diagnosis requires the presence of three key features: absence of the corpus callosum, infantile spasms, and chorioretinal lacunae. This case study details the presentation of a female newborn delivered at 36weeks gestation, who presented to the emergency department with arm and leg stiffness. An electroencephalogram confirmed generalized hypsarrhythmia, characteristic of infantile spasms. Magnetic resonance imaging revealed complete absence of the corpus callosum. Subs

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5

de Leeuw, Carola, Anne Kurver, and Aad Verrips. "Chorioretinal Lacunae in Aicardi's Syndrome: Key for the Diagnosis." Neuropediatrics 51, no. 04 (2020): 311–12. http://dx.doi.org/10.1055/s-0040-1709454.

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6

Bayram-Suverza, Mauricio, Karla Alejandra Torres-Navarro, Ángeles Yahel Hernández-Vázquez, and Juan Abel Ramírez-Estudillo. "Microcephaly and Chorioretinopathy Relevance as a Differential Diagnosis." Diagnostics 13, no. 15 (2023): 2588. http://dx.doi.org/10.3390/diagnostics13152588.

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Microcephaly and chorioretinopathy are genetic disorders that are inherited in an autosomal recessive manner. The most frequent ocular manifestation is the presence of lacunar atrophy in the retina and choroid. The diagnosis of this condition can be challenging as several potential causes and related syndromes need to be ruled out. We present two cases of microcephaly and chorioretinopathy in Mexican patients, their clinical characterization, and discuss the differential diagnoses that should be considered. An 8-year-old girl was examined due to a history of decreased vision in both eyes. Fund

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7

Aicardi, Jean. "Callosal agenesis, chorioretinal lacunae, absence of infantile spasms, and normal development: Aicardi syndrome without epilepsy?" Developmental Medicine & Child Neurology 47, no. 6 (2007): 364. http://dx.doi.org/10.1111/j.1469-8749.2005.tb01153.x.

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8

Viñas, Jose Maria Prats, María Jesús Martinez Gonzalez, Ainhoa Garcia Ribes, Sonia Martinez Gonzalez, and Ricardo Martinez Fernandez. "Callosal agenesis, chorioretinal lacunae, absence of infantile spasms, and normal development: Aicardi syndrome without epilepsy?" Developmental Medicine & Child Neurology 47, no. 6 (2007): 419–20. http://dx.doi.org/10.1111/j.1469-8749.2005.tb01164.x.

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9

Viñas, Jose Maria Prats, María Jesús Martinez Gonzalez, Ainhoa Garcia Ribes, Sonia Martinez Gonzalez, and Ricardo Martinez Fernandez. "Callosal agenesis, chorioretinal lacunae, absence of infantile spasms, and normal development: Aicardi syndrome without epilepsy?" Developmental Medicine & Child Neurology 47, no. 6 (2005): 419–20. http://dx.doi.org/10.1017/s0012162205000812.

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10

Aicardi, Jean. "Callosal agenesis, chorioretinal lacunae, absence of infantile spasms, and normal development: Aicardi syndrome without epilepsy?" Developmental Medicine & Child Neurology 47, no. 6 (2005): 364. http://dx.doi.org/10.1017/s001216220521071x.

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11

Aguiar, Maria de Fátima M., Marisa Cavalcanti, Hamilton Barbosa, Suzete Leme Vilela, José Luiz Mendonça, and Elaine Horta. "Síndrome de Aicardi e papiloma do plexo coróide: uma associação rara. Relato de caso." Arquivos de Neuro-Psiquiatria 54, no. 2 (1996): 313–17. http://dx.doi.org/10.1590/s0004-282x1996000200022.

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Relata-se o caso clínico de uma criança de 5 meses de idade, do sexo feminino, com achados característicos da síndrome de Aicardi: agenesia do corpo caloso, espasmos infantis, anormalidades oculares ("chorioretinal lacunae" e microftalmia), atraso do desenvolvimento neuropsicomotor e malformações vertebrais com cifoescoliose. Os exames complementares confirmaram o diagnóstico e as imagens neurorradiológicas evidenciaram, além da agenesia do corpo caloso, massa localizada em região atrioventricular esquerda (papiloma do plexo coróide). A síndrome de Aicardi associada a papiloma do plexo coróide

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12

Broomall, Eileen, Deborah Renaud, Rafif Ghadban, Ralitza Gavrilova, and Michael C. Brodsky. "Peripapillary Chorioretinal Lacunae in a Girl With 3q21.3 to 3q22.1 Microdeletion With Features of Aicardi Syndrome." JAMA Ophthalmology 131, no. 11 (2013): 1485. http://dx.doi.org/10.1001/jamaophthalmol.2013.4830.

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13

Ha, Thuong T., Rosemary Burgess, Morgan Newman, et al. "Aicardi Syndrome Is a Genetically Heterogeneous Disorder." Genes 14, no. 8 (2023): 1565. http://dx.doi.org/10.3390/genes14081565.

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Aicardi Syndrome (AIC) is a rare neurodevelopmental disorder recognized by the classical triad of agenesis of the corpus callosum, chorioretinal lacunae and infantile epileptic spasms syndrome. The diagnostic criteria of AIC were revised in 2005 to include additional phenotypes that are frequently observed in this patient group. AIC has been traditionally considered as X-linked and male lethal because it almost exclusively affects females. Despite numerous genetic and genomic investigations on AIC, a unifying X-linked cause has not been identified. Here, we performed exome and genome sequencin

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14

Rao, T. Rama, Dwip Jyoti Kalita, and Shahzad Alam. "Aicardi Syndrome: Case Series." International Journal of Health Sciences and Research 14, no. 10 (2024): 176–81. http://dx.doi.org/10.52403/ijhsr.20241018.

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Aicardi syndrome is a rare genetic disorder that primarily affects females and is marked by three main clinical features: agenesis of the corpus callosum, chorioretinal lacunae, and seizures. The absence or abnormal development of the corpus callosum impairs communication between the brain's hemispheres, resulting in various neurological issues. Seizures, commonly appearing as infantile spasms, are frequent and can vary in severity and frequency. Aicardi syndrome is usually diagnosed in infancy through clinical evaluation and imaging studies. Effective care and management of Aicardi syndrome r

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15

Sözüöz, Melis Arda, Ezgi Aydın Varol, and Merve Aksoy. "Pediatric dentistry approach in a child with Aicardi-Goutières Syndrome type 2: A case report and literature review." Contemporary Pediatric Dentistry 5, no. 2 (2024): 105–12. http://dx.doi.org/10.51463/cpd.2024.20.

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Aicardi-Goutières Syndrome is a rare autosomal recessive disorder characterized by a triad of partial or complete agenesis of the corpus callosum, infantile spasms, and chorioretinal lacunae. The condition predominantly affects females, as males often do not survive the embryonic period. Intellectual disability associated with the syndrome ranges from mild to moderate. There is limited information in the literature regarding the oral manifestations of this syndrome. This case report aims to provide insights into the development of primary dentition in patients with Aicardi-Goutières Syndrome a

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16

Hashemi, Kattayoon, Elias I. Traboulsi, Richard Chavis, Nina Scribanu, and Georgia A. Chrousos. "Chorioretinal Lacuna in the Amniotic Band Syndrome." Journal of Pediatric Ophthalmology & Strabismus 28, no. 4 (1991): 238–39. http://dx.doi.org/10.3928/0191-3913-19910701-12.

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17

Constad, William H., Rudolph S. Wagner, and Anthony R. Caputo. "Aicardi Syndrome in One Dizygotic Twin." Pediatrics 76, no. 3 (1985): 450–53. http://dx.doi.org/10.1542/peds.76.3.450.

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The Aicardi syndrome consists of infantile spasms, defects of the corpus callosum, dorsal vertebral anomalies, and chorioretinal lacunar defects. The etiology is, as yet, unknown. The most likely cause, however, is an χ-linked mutational event that is lethal in males. The first case of the Aicardi syndrome known to occur in one twin is reported. The patient was female and her unaffected sibling was male. This provides strong evidence to support the theory of an χ-linked mutational event as the cause of this condition. The typical chorioretinal defects, often difficult to document because these

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18

Guerriero, Silvana, Vittorio Sciruicchio, Roberto De Blasi, et al. "Chorioretinal Lacunae: Pathognomonic Findings for Aicardi Syndrome." Journal of Pediatric Ophthalmology & Strabismus, August 10, 2009. http://dx.doi.org/10.3928/01913913-20090701-04.

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19

Guerriero, Silvana, Vittorio Sciruicchio, Roberto De Blasi, et al. "Chorioretinal Lacunae: Pathognomonic Findings for Aicardi Syndrome." Journal of Pediatric Ophthalmology & Strabismus, May 21, 2010. http://dx.doi.org/10.3928/01913913-20100324-03.

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20

"Seizures and chorioretinal lacunae in an infant." Journal of Paediatrics and Child Health 53, no. 9 (2017): 920. http://dx.doi.org/10.1111/jpc.2_13465.

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21

Al-Moujahed, Ahmad, Natalia F. Callaway, Cassie A. Ludwig, Nadim Rayess, Edward Wood, and Darius M. Moshfeghi. "Morning glory optic nerve in Aicardi syndrome: Report of a case with fluorescein angiography." European Journal of Ophthalmology, July 16, 2020, 112067212094270. http://dx.doi.org/10.1177/1120672120942702.

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Background: Aicardi syndrome is an X-linked condition that is associated with multiple ophthalmic malformations. Here, we report the first published fluorescein angiography (FA) study of a morning glory optic nerve in a patient with Aicardi syndrome and contralateral persistent fetal vasculature (PFV). Case description: A 12-day old full-term baby girl with a normal neurological exam was referred for evaluation of microphthalmia. The posterior segment of the right eye demonstrated chorioretinal lacunae typical of Aicardi syndrome and microphthalmos with a stalk consistent with PFV. The right e

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22

Shaikh, Nawazish, Bharat Arora, and Vinod Kumar. "KIF11 Mutation with Congenital Microcephaly and Chorioretinal Lacunae." Ophthalmology Retina, July 2022. http://dx.doi.org/10.1016/j.oret.2022.06.002.

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23

Dias, Edwin. "Aicardi Syndrome in a 8 month Old Female Child." International Journal of Health Sciences and Pharmacy, April 19, 2019, 18–20. http://dx.doi.org/10.47992/ijhsp.2581.6411.0039.

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Aicardi syndrome (AS) is a triad of infantile spasms, chorioretinal ‘lacunae’ and agenesis of corpus callosum. The exact frequency of this condition is not known. Here we provide a description of an 8 month old child with Aircardi syndrome. Treated with multiple Antiepileptic drug.

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24

Edwin, Dias, and Sara Mathew Chris. "Respiratory Therapy Interventions preventing the Need for Bronchoscopy in a 12 year old, with Right Lower lobe Atelectasis -A Case Report." International Journal of Health Science and Pharmacy 3, no. 1 (2019). https://doi.org/10.5281/zenodo.2646469.

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Aicardi syndrome (AS) is a triad of infantile spasms, chorioretinal ‘lacunae’ and agenesis of corpus callosum. The exact frequency of this condition is not known. Here we provide a description  of an 8 month old child with Aircardi syndrome. Treated with multiple Anti- epileptic drugs.  

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25

Pathak, Pradnya Dileep, Preetam P. Shah, Laxmi S. Lakade, and Maya U. Shinde. "Full Mouth Rehabilitation of a Child with Aicardia-Goutières: A Rare Syndrome." JOURNAL OF CLINICAL AND DIAGNOSTIC RESEARCH, 2023. http://dx.doi.org/10.7860/jcdr/2023/58913.17383.

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Aicardi-Goutières Syndrome (AGS) is a rare genetic disorder with autosomal recessive inheritance. AGS is characterised by an earlyonset encephalopathy that usually, but not always, results in severe intellectual and physical disability. Involuntary muscular spasms between the ages of four months and four years are the typical starting point for Aicardi syndrome. Hepatosplenomegaly, increased liver enzymes, thrombocytopenia, and abnormal neurologic signs in a subgroup of AGS children at birth strongly imply congenital infection. Agenesis of the corpus callosum, chorioretinal lacunae, and seizur

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26

Masnada, Silvia, Anna Pichiecchio, Manuela Formica, et al. "Basal ganglia dysmorphism in patients with Aicardi syndrome." Neurology, December 4, 2020, 10.1212/WNL.0000000000011237. http://dx.doi.org/10.1212/wnl.0000000000011237.

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ObjectiveAiming to detect associations between neuroradiologic and EEG evaluations and long-term clinical outcome in order to detect possible prognostic factors, a detailed clinical and neuroimaging characterization of 67 cases of Aicardi syndrome (AIC), collected through a multicenter collaboration, was performed.MethodsOnly patients who satisfied Sutton diagnostic criteria were included. Clinical outcome was assessed using gross motor function, manual ability, and eating and drinking ability classification systems. Brain imaging studies and statistical analysis were reviewed.ResultsPatients

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