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Journal articles on the topic 'Ocular malformations'

Author: Grafiati

Published: 2 June 2025

Last updated: 31 July 2025

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1

Daglio, Daniel Eduardo, Micaela De Lucía, David Gwyn Robinson, and Diego Eduardo Gutiérrez Gregoric. "Ocular tentacle malformation in Deroceras reticulatum (Mollusca: Gastropoda: Agriolimacidae)." Papéis Avulsos de Zoologia 59 (August 15, 2019): e20195932. http://dx.doi.org/10.11606/1807-0205/2019.59.32.

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Malformations in animals have long been known. In gastropod, natural and induced malformations are mentioned in different systems and in ocular tentacles, mainly linked to cases of parasitism and exposure to pollutants (molluscicides and chemicals). In this study we present a new malformation not documented in the ocular tentacles of slug Deroceras reticulatum that could be due to the action of pesticides. This malformation in D. reticulatum is the first malformation to be mentioned for South America in nursery gardens.

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2

Guarnera, Alessia, Paola Valente, Luca Pasquini, et al. "Congenital Malformations of the Eye: A Pictorial Review and Clinico-Radiological Correlations." Journal of Ophthalmology 2024 (January 30, 2024): 1–17. http://dx.doi.org/10.1155/2024/5993083.

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Congenital malformations of the eye represent a wide and heterogeneous spectrum of abnormalities that may be part of a complex syndrome or be isolated. Ocular malformation severity depends on the timing of the causative event during eye formation, ranging from the complete absence of the eye if injury occurs during the first weeks of gestation, to subtle abnormalities if the cause occurs later on. Knowledge of ocular malformations is crucial to performing a tailored imaging protocol and correctly reporting imaging findings. Together with the ophthalmologic evaluation, imaging may help frame oc

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3

Buyse, Gunnar, Lieven Lagae, Philippe Demaerel, Frank Kesteloot, Ingele Casteels, and Louise Knoors. "A Conjunctival Vascular Malformation as a Rare Presenting Sign of Wyburn–Mason Syndrome." Journal of Pediatric Neurology 16, no. 04 (2017): 239–42. http://dx.doi.org/10.1055/s-0037-1607996.

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AbstractWyburn–Mason syndrome is a rare condition that is characterized by ipsilateral arteriovenous malformations affecting the eye, brain, and facial skin. A conjunctival vascular dilation can be a rare ocular presenting sign. We report a 6-year-old boy who attended the hospital because of the sudden appearance of a conjunctival vascular lesion in his right eye. Inspection of his facial skin showed a subtle discoloration along the right trigeminal nerve and a vascular structure of the conjunctiva. Fundoscopy showed dilated and tortuous retinal vessels. Brain magnetic resonance imaging (MRI)

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4

Warburg, M. "Ocular malformations and lissencephaly." European Journal of Pediatrics 146, no. 5 (1987): 450–52. http://dx.doi.org/10.1007/bf00441592.

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5

Strömland, Kerstin. "Ocular malformations with embryonic implications." Acta Ophthalmologica Scandinavica 73, S214 (2009): 9–11. http://dx.doi.org/10.1111/j.1600-0420.1995.tb00580.x.

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6

Radić Nišević, Jelena, Igor Prpić, Ronald Antulov, Antun Sasso, and Izidora Holjar Erlić. "Encephalocraniocutaneous Lipomatosis Without Ocular Malformations." Pediatric Neurology 60 (July 2016): 71–74. http://dx.doi.org/10.1016/j.pediatrneurol.2016.03.005.

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7

Traboulsi, Elias I. "Ocular malformations and developmental genes." Journal of American Association for Pediatric Ophthalmology and Strabismus 2, no. 6 (1998): 317–23. http://dx.doi.org/10.1016/s1091-8531(98)90024-6.

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8

Zetterström, Birgitta. "OCULAR MALFORMATIONS CAUSED BY THALIDOMIDE." Acta Ophthalmologica 44, no. 3 (2009): 391–95. http://dx.doi.org/10.1111/j.1755-3768.1966.tb08048.x.

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9

İlker, S. Sami, Abdullah Ceylan, Kazım Aral, and Necdet Bekir. "Ocular Traumas and Conjunctival Flora in Newborns, Comparing with the Maternal Vaginal Flora." European Journal of Therapeutics 2, no. 2 (1991): 150–57. http://dx.doi.org/10.58600/eurjther.19910202-527.

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The purpose of this study is to analyze the data concerning ocular injuries, congenital abnormalities, and the conjunctival flora of newborns. For this reason, randomised 224 newborns at Ankara Central Maternity Hospital were examined. We found 2,2 percent ocular congenital malformations and abnormalities 2,6 percent extraocular congenital malformation and abnormalities among these babies. The fewest lesions have been met in those delivered by the Cesarian section, and all delivered that were made by forceps and other equipment have had some lesions depending on the birth trauma. We also found

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10

Mohamed, Abdallahi Ould Hamed. "Bilateral iris, lens and Chorioretinal Coloboma: A Case Report." Journal of Clinical Research and Ophthalmology 5, no. 1 (2018): 012. https://doi.org/10.17352/2455-1414.000047.

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Colobomas are genetic malformations due to lack of closure of the embryonic fissure. These are rare malformations that can sit at any level of the eye. Colobomas can be uni or bilateral, sporadic or hereditary. It may be associated with other ocular manifestations and extra-ocular malformations involving a general, clinical and radiological examination. We report the case of a 28 year old young man with no significant pathological history whose ophthalmological examination revealed a coloboma affecting the iris, lens and choroid.

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11

Cardoso, Juliana, Marcos C. Lange, Paulo J. Lorenzoni, Rosana H. Scola, and Lineu C. Werneck. "Dandy-Walker syndrome in adult mimicking myasthenia gravis." Arquivos de Neuro-Psiquiatria 65, no. 1 (2007): 173–75. http://dx.doi.org/10.1590/s0004-282x2007000100037.

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The Dandy-Walker syndrome (DWS) is a rare posterior fossa malformation. The DWS can occur associated with other brain or systemic malformations, but ocular abnormalities in this disease are rare and clinical findings mimicking myasthenia gravis have not been described to date. We report a 23-year-old woman who presented mild limitation of the ocular movements with progressive palpebral ptosis, which changed in intensity during the day. The investigation showed negative anti-acetylcholine receptor antibody, repetitive nerve stimulation and "Tensilon test", but the brain magnetic resonance image

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12

Morisako, Hiroki, Takeo Goto, Christian A. Bohoun, Hironori Arima, Tsutomu Ichinose, and Kenji Ohata. "Usefulness of the anterior transpetrosal approach for pontine cavernous malformations." Neurosurgical Focus: Video 1, no. 1 (2019): V4. http://dx.doi.org/10.3171/2019.7.focusvid.19125.

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Surgical resection of pontine cavernous malformation remains a particularly formidable challenge. We report the surgical outcome of eight cases with pontine cavernous malformations operated using the anterior transpetrosal approach. All cases presented with neurological deficits caused by hemorrhage before surgery. Gross-total removal was achieved in all cases without any postoperative complication such as worsening of facial nerve palsy, ocular movement disorder, or hemiplegia. A small incision of the pons with multidirectional dissection is the most important factor for minimizing postoperat

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13

Chowdhury, Partha Haradhan, and Brinda Shah. "Visual Function and Ocular Abnormalities in CHARGE Syndrome: A Comparative Study of Ophthalmic Features and Systemic Manifestations." Journal of Multidisciplinary Research in Healthcare 10, no. 2 (2024): 54–58. https://doi.org/10.15415/jmrh.2024.102008.

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Background: CHARGE syndrome is a multifaceted genetic disorder characterized by systemic as well as ocular anomalies, which include craniofacial malformations, coloboma, optic nerve hypoplasia, and congenital heart defects. Purpose: The aim of the study is to explore the visual function and ocular anomalies with a focus on understanding the correlation between ocular and systemic features. Methods: A prospective study was conducted in the period from May 2022 to December 2023, which includes 74 subjects who are diagnosed with CHARGE syndrome. Data was collected from specialty clinics and speci

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14

Sahel, José-Alain, and Katia Marazova. "Toward postnatal reversal of ocular congenital malformations." Journal of Clinical Investigation 124, no. 1 (2013): 81–84. http://dx.doi.org/10.1172/jci73560.

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15

Williams, Amy Lavin, and John M. DeSesso. "Trichloroethylene and Ocular Malformations: Analysis of Extant Literature." International Journal of Toxicology 27, no. 1 (2008): 81–95. http://dx.doi.org/10.1080/10915810701876760.

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An evaluation of the scientific literature for trichloroethylene (TCE) identified two reports of ocular defects, specifically microphthalmia/anophthalmia, following prenatal TCE exposure in rats. Herein, these reports are analyzed in detail and interpreted within the context of other developmental TCE exposure studies. The ocular findings following prenatal TCE exposure are reported in studies that were not designed specifically for developmental safety assessment, and thus did not use standard experimental practices. Furthermore, these findings most commonly occurred at TCE doses associated w

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16

Jimenez, Juliana, Diego A. Herrera, Sergio A. Vargas, Jorge Montoya та Mauricio Castillo. "β-Tubulinopathy caused by a mutation of the TUBB2B gene: magnetic resonance imaging findings of the brain". Neuroradiology Journal 32, № 2 (2019): 148–50. http://dx.doi.org/10.1177/1971400919828142.

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Patients with mutations in tubulin-related genes usually present with brain malformations, intellectual disability, epilepsy, microcephaly and ocular abnormalities. In these patients the diagnosis can be suggested by neuroimaging findings. We report a 5-year-old patient with characteristic magnetic resonance imaging findings including malformation of cortical development, fused basal ganglia, large head of the caudate nuclei, absent anterior limbs of the internal capsules, corpus callosum dysgenesis and dysplastic cerebellar vermis. Sequencing of the TUBB2B gene confirmed a heterozygous mutati

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17

Warren, D. A., L. J. Graeter, S. R. Channel, et al. "Trichloroethylene, Trichloroacetic Acid, and Dichloroacetic Acid: Do They Affect Eye Development in the Sprague-Dawley Rat?" International Journal of Toxicology 25, no. 4 (2006): 279–84. http://dx.doi.org/10.1080/10915810600745975.

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Maternal exposure to high doses of trichloroethylene (TCE) and its oxidative metabolites, trichloroacetic acid (TCA) and dichloroacetic acid (DCA), has been implicated in eye malformations in fetal rats, primarily micro-/anophthalmia. Subsequent to a cardiac teratology study of these compounds ( Fisher et al. 2001 , Int. J. Toxicol. 20:257–267), their potential to induce ocular malformations was examined in a subset of the same experimental animals. Pregnant, Sprague-Dawley Crl:CDR BR rats were orally treated on gestation days (GDs) 6 to 15 with bolus doses of either TCE (500 mg/kg/day), TCA (

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18

KO, Isezuo. "Pattern of Congenital Heart Diseases in Children with Congenital Malformations: An Echocardiographic study from a Tertiary Health facility in Sokoto, Nigeria." Clinical Cardiology and Cardiovascular Interventions 4, no. 7 (2021): 01–06. http://dx.doi.org/10.31579/2641-0419/143.

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Background: Children with congenital malformations (CM) may have congenital heart diseases (CHDs) which may be initially asymptomatic. These need to be recognised and managed early in order to reduce unnecessary morbidity in affected patients. We report the pattern of CHDs in children with congenital malformations who had echocardiography over a one year period in UDUTH, Sokoto. Materials and Methods: A cross-sectional study carried out in the Paediatric Cardiology Unit from 1st January to 31st December 2019. Children presenting with CM were recruited and had echocardiagraphic screening for CH

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19

Glauser, Tracy A., Lucy B. Rorke, Paul M. Weinberg, and Robert R. Clancy. "Congenital Brain Anomalies Associated With the Hypoplastic Left Heart Syndrome." Pediatrics 85, no. 6 (1990): 984–90. http://dx.doi.org/10.1542/peds.85.6.984.

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This study details the type, frequency, and clinical presentation of developmental brain anomalies in 41 infants with the hypoplastic left heart syndrome encountered during a 52-month interval. Overall, 29% of the infants had either a major or minor central nervous system abnormality. Overt central nervous system malformations, including 3 cases of agenesis of the corpus callosum and 1 case of holoprosencephaly, were seen in 4 infants (10%). Micrencephaly (brain weight at autopsy more than 2 SDs below the mean for age) was found in 27% of the infants. An immature cortical mantle was seen in 21

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20

Greene, Arin K., Gary F. Rogers, and John B. Mulliken. "Schimmelpenning Syndrome: An Association with Vascular Anomalies." Cleft Palate-Craniofacial Journal 44, no. 2 (2007): 208–15. http://dx.doi.org/10.1597/06-025.1.

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Objective: Schimmelpenning syndrome is a rare neurocutaneous disorder characterized by craniofacial nevus sebaceus in association with seizures, developmental delay, and ocular or skeletal pathology. Vascular anomalies also have been described in this condition, and some authors have suggested that the two entities are associated. The purpose of this study was to determine the prevalence of vascular anomalies in Schimmelpenning syndrome. Methods: We reviewed the medical records of patients with Schimmelpenning syndrome who were evaluated or were managed at Children's Hospital Boston between 19

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21

Heon, Elise, Magda Barsoum-Homsy, Line Cevrette, et al. "The Spectrum of Associated Ocular and Systemic Malformations." Ophthalmic Paediatrics and Genetics 13, no. 2 (1992): 137–43. http://dx.doi.org/10.3109/13816819209087614.

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22

Lee, J. S., J. E. Lee, Y. G. Shin, H. Y. Choi, B. S. Oum, and H. J. Kim. "Five cases of microphthalmia with other ocular malformations." Korean Journal of Ophthalmology 15, no. 1 (2001): 41. http://dx.doi.org/10.3341/kjo.2001.15.1.41.

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23

Ragge, Nicola K., Alison G. Brown, Charlotte M. Poloschek, et al. "Heterozygous Mutations of OTX2 Cause Severe Ocular Malformations." American Journal of Human Genetics 76, no. 6 (2005): 1008–22. http://dx.doi.org/10.1086/430721.

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24

Webster, A. R., and A. T. Moore. "Ocular malformations and the fruits of develpmental genetics." Eye 8, no. 5 (1994): v. http://dx.doi.org/10.1038/eye.1994.123.

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25

Maurya, Rajendra Prakash, Rajnikant Mishra, and Sneha Gupta. "PAX6 gene and its role in ocular malformations." IP International Journal of Ocular Oncology and Oculoplasty 9, no. 3 (2023): 111–12. http://dx.doi.org/10.18231/j.ijooo.2023.024.

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26

Horkovicova, Kristina, Ivajlo Popov, Dana Tomcikova, Veronika Popova, and Vladimir Krasnik. "The Natural History of Retinal Vascular Changes from Infancy to Adulthood in Wyburn-Mason Syndrome." Medicina 56, no. 11 (2020): 598. http://dx.doi.org/10.3390/medicina56110598.

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Wyburn-Mason syndrome is a rare, non-hereditary congenital neurocutaneous disorder leading to arteriovenous malformations. Malformations are characterized by an artery that is directly connected to veins without a capillary system and forms a fragile mass of abnormal vessels. It can be found in the midbrain, in the eyes, orbit, and rarely in cutaneous nevi. Neurological and ocular symptoms are the most common. Ocular signs and symptoms include abnormally dilatated vessels of conjunctiva, nystagmus, strabismus, vitreous hemorrhage, vein occlusions, retinal detachment, etc. Neurological symptoms

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27

Singer, Cristina Elena, Simona Cosoveanu, Ileana Octavia Petrescu, et al. "Atypical Form of Ocular Toxoplasmosis." Romanian Journal of Pediatrics 71, no. 1 (2022): 35–38. http://dx.doi.org/10.37897/rjp.2022.1.7.

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We present the case of a girl, aged 7 years, from rural area, admitted to our clinic with frontal and occipital headache and intermittent ocular pain, which started three weeks before admission; no pathologic antecedents. When admitted, weight=51 kg, height=124 cm (BMI=36.16), no fever but with modified general state, excessive subcutaneous cellular tissue, normal cardio-pulmonary and digestive state, without meningeal symptoms. BP= 90/62 mmHg, HR= 80 b/min.; eye fundus examination at admission: both eyes - papillae with a faded, prominent contour/lineament, multiple hemorrhages with a peripap

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28

Sulik, K. K., C. S. Cook, and W. S. Webster. "Teratogens and craniofacial malformations: relationships to cell death." Development 103, Supplement (1988): 213–32. http://dx.doi.org/10.1242/dev.103.supplement.213.

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Environmental agents including ethanol, 13-cis retinoic acid (RA, Accutane®), the antimetabolite methotrexate, periods of hypoxia, ionizing radiation or hyperthermic stress, when administered acutely to pregnant experimental animals, induce stage-dependent craniofacial malformations comparable to those in corresponding human teratogen syndromes. Acute treatment regimens have allowed analysis of cell populations initially affected and subsequent dysmorphogenetic sequences as well as speculation relative to mechanisms of teratogenesis. In rodent models, ethanol and RA appear to affect similar ce

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dos Santos, Ana Luiza Soares, Beatriz Bussi Rosolen, Fernanda Curvelo Ferreira, et al. "Intrauterine Zika Virus Infection: An Overview of the Current Findings." Journal of Personalized Medicine 15, no. 3 (2025): 98. https://doi.org/10.3390/jpm15030098.

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Zika virus (ZIKV) is a mosquito-borne flavivirus of the family Flaviviridae. The association between ZIKV and microcephaly was first described in Brazil in 2015. The risk of vertical transmission occurs in pregnant women with or without symptoms, and the risk of malformation appears to be worse when infection occurs in the first and second trimesters of pregnancy. The rate of vertical transmission varies from 26 to 65%, and not all fetuses develop malformations. The incidence of malformations resulting from transmission is uncertain, ranging from 6–8% in the US to 40% in Brazil. Congenital ZIK

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30

Saraiva, Inês Q., and Esmeralda Delgado. "Congenital ocular malformations in dogs and cats: 123 cases." Veterinary Ophthalmology 23, no. 6 (2020): 964–78. http://dx.doi.org/10.1111/vop.12836.

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31

Strömland, Kerstin. "Ocular Malformations in Children Exposed to Drugs During Gestation." Clinical Pediatrics 27, no. 5 (1988): 257–58. http://dx.doi.org/10.1177/000992288802700510.

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32

Ferguson, James W., H. Terry Hutchison, and Bobbye M. Rouse. "Ocular, cerebral and cutaneous malformations: confirmation of an association." Clinical Genetics 25, no. 5 (2008): 464–69. http://dx.doi.org/10.1111/j.1399-0004.1984.tb02018.x.

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33

Hirabuki, N., T. Miura, M. Mitomo, et al. "MR imaging of dural arteriovenous malformations with ocular signs." Neuroradiology 30, no. 5 (1988): 390–94. http://dx.doi.org/10.1007/bf00404103.

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34

Peiffer, Robert L., Robert McCullen, Ajit J. Alles, and Kathleen K. Sulik. "Relationship of cell death to cyclophosphamide-induced ocular malformations." Teratogenesis, Carcinogenesis, and Mutagenesis 11, no. 4 (1991): 203–12. http://dx.doi.org/10.1002/tcm.1770110405.

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35

Kumar Jena, Dr Ashok, and Dr Om Kharbanda. "Axenfeld-Rieger Syndrome: Report on dental and craniofacial findings." Journal of Clinical Pediatric Dentistry 30, no. 1 (2006): 83–88. http://dx.doi.org/10.17796/jcpd.30.1.v1732398454r0244.

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Axenfeld-Rieger syndrome is a rare autosomal dominant disorder characterized by various ocular and extraocular malformations. Dental abnormalities are considered as definitive features for the diagnosis and differentiation of Rieger syndrome from other anterior chamber of the eye malformations. A case of Rieger syndrome with distinct dental and craniofacial anomalies is described. Significant cranio-dento-facial findings that have been observed are, teeth with short and dilacerated roots, hyperplastic frenums and underdeveloped maxilla. There was an anterior crossbite, bilateral posterior open

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36

Quin, Natasha. "A Rare Case Study of Microphthalmia with Anophthalmia." Canadian Journal of Medical Sonography 16, no. 1 (2025): 14–21. https://doi.org/10.3138/cjms-2024-0011.

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Ocular malformations represent a wide spectrum of disease, ranging from reduced size or hypoplasia (microphthalmia) to complete ocular absence (anophthalmia). The incidence rate varies between 0.18 and 0.33 per 10,000 live births, with both conditions having complex etiologies, including genetic and environmental factors. Early diagnosis is crucial to provide counselling and intervention and is best achieved with pre-natal ultrasound. Multidisciplinary care, involving geneticists, obstetricians and ophthalmologists, will aim to address visual impairment, developmental delays, and associated sy

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Kızıltunç, Pınar Bingöl, Esra Şahlı, Aysun İdil, and Huban Atilla. "Demographic, ocular and associated neurological findings in corpus callosum malformations." Turkish Journal of Pediatrics 63, no. 2 (2021): 291. http://dx.doi.org/10.24953/turkjped.2021.02.013.

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38

Fahnehjelm, K. Teär, K. Wide, O. Flodmark, U. Ek, and A. Hellström. "Posterior ocular malformations in children: somatic, neuroradiological and cognitive aspects." Acta Paediatrica 92, no. 3 (2007): 301–8. http://dx.doi.org/10.1111/j.1651-2227.2003.tb00550.x.

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39

Verdure, P., O. Le Moigne, E. G. Massardier, C. Vanhulle, E. Tollard, and D. Maltête. "Migraine-like headache and ocular malformations may herald Moyamoya syndrome." Revue Neurologique 168, no. 5 (2012): 460–61. http://dx.doi.org/10.1016/j.neurol.2011.09.011.

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Chemke, Juan, Bernard Czernobilsky, George Mundel, and Y. Robert Barishak. "A familial syndrome of central nervous system and ocular malformations." Clinical Genetics 7, no. 1 (2008): 1–7. http://dx.doi.org/10.1111/j.1399-0004.1975.tb00356.x.

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Plaisancié, Julie, Bertrand Chesneau, Lucas Fares-Taie, et al. "Structural Variant Disrupting the Expression of the Remote FOXC1 Gene in a Patient with Syndromic Complex Microphthalmia." International Journal of Molecular Sciences 25, no. 5 (2024): 2669. http://dx.doi.org/10.3390/ijms25052669.

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Ocular malformations (OMs) arise from early defects during embryonic eye development. Despite the identification of over 100 genes linked to this heterogeneous group of disorders, the genetic cause remains unknown for half of the individuals following Whole-Exome Sequencing. Diagnosis procedures are further hampered by the difficulty of studying samples from clinically relevant tissue, which is one of the main obstacles in OMs. Whole-Genome Sequencing (WGS) to screen for non-coding regions and structural variants may unveil new diagnoses for OM individuals. In this study, we report a patient e

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Hamdaoui, Oum Rachad, Achta Adam Fadoul, El Mahfoudi Salwa, et al. "Sturge-Weber Syndrome: About A Case." EAS Journal of Radiology and Imaging Technology 4, no. 4 (2022): 99–101. http://dx.doi.org/10.36349/easjrit.2022.v04i04.008.

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Sturge-Weber syndrome (SWS) or encephalo-facial angiomatosis, is a syndrome rare congenital neurocutaneous and ocular. He has two types of malformations: capillary congenital facial with flat angioma type and capillaro-venous lepto-meningeal location the more often ipsilateral parieto-occipital. The Neuroimaging, essentially imaging by magnetic resonance (MRI), plays a role important in establishing the diagnosis, ideally before the onset of complications neuro-ocular. We report the case of a patient with motor impairment in whom SWS is suspected based on facial angioma and pharmaco-resistant

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Naimi, S., B. Elazzouzi, B. Boutakioute, M. Ouali Idrissi, and N. Cherif Idrissi El Ganouni. "Sturge–Weber Syndrome – A Case Report." SAS Journal of Medicine 7, no. 10 (2021): 576–78. http://dx.doi.org/10.36347/sasjm.2021.v07i10.014.

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Sturge-Weber syndrome (SWS) or encephalofacial angiomatosis is a rare neurocutaneous and congenital ocular syndrome. It is responsible about two malformations: congenital facial capillary planar angioma and leptomeningal venous-capillary angioma (most often parieto-occipital homolateral angioma). Neuroimaging, especially magnetic resonance imaging (MRI), makes the diagnosis, ideally before ocular complications. In Sturge-Weber syndrome neurodevelopmental outcomes depend to accurate recognition of the signs of severity and proper therapeutic management of epilepsy. We report the case of an old

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Aoussar, Chaimae, Sanae Azitoune, Chaimae Nahi, Mohamed Amine Ichane, Khadija Mouadine, and Bouchra Chkirate. "Orbital Cellulitis Revealing Sturge-weber Syndrome: A Case Report." Asian Journal of Pediatric Research 14, no. 4 (2024): 35–39. http://dx.doi.org/10.9734/ajpr/2024/v14i4339.

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Sturge-Weber syndrome (SWS), also known as encephalofacial angiomatosis, is a rare congenital neurocutaneous and ocular condition. It is characterized by two types of malformations: a congenital facial port-wine stain and a capillary-venous leptomeningeal angioma, typically homolaterally located, often in the parieto-occipital region. The diagnosis of SWS largely relies on neuroimaging, particularly magnetic resonance imaging (MRI), which is crucial for identifying anomalies before the onset of neuro-ocular complications. We present the case of a child in whom SWS is suspected due to the prese

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Alza, Andrés Germán. "Case Report: Congenital Pseudoacorea in an Ocular Axenfeld-Rieger Syndrome: What is it?" Journal of Clinical Cases and Reports 6, no. 4 (2023): 173`—186. http://dx.doi.org/10.46619/joccr.2023.6-1145.

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SUMMARY This is a descriptive summary of the case of a patient with Axenfeld-Rieger syndrome associated with a congenital malformation of the iris and consequent pupillary morphological alteration of an atypical characteristic reported. This anomaly is unique in scientific literature and exhibits a peculiarity that we have called pseudoacorea: Hidden pupil. Other associated abnormal clinical findings were posterior embryotoxon, astigmatism, amblyopia, and exotropia. Diagnosis was achieved by instilling ocular mydriatics into the cul-de-sac that revealed this peculiarity. It is necessary to mak

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Mohammed, Alenazi *. Muawyah AL-Bdour Hind Alkatan Taher Alshammri Ziyad Alanazi Moustafa Magliyah ssan Alanazi eshal Alruwaili. "POSTERIOR SEGMENT OPHTHALMIC MALFORMATIONS: HISTOPATHOLOGICAL SPECTRUM CORRELATED TO CLINICAL PRESENTATION AND REVIEW OF THE LITERATURE." INDO AMERICAN JOURNAL OF PHARMACEUTICAL SCIENCES o6, no. 02 (2019): 3570–77. https://doi.org/10.5281/zenodo.2562610.

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Abstract:

<strong><em>Purpose:</em></strong><em> A wide range of posterior ophthalmic malformation is undervalued in the literature. This includes congenital cystic eye, microphthalmia and anophthalmia, Persistent Hyperplastic Primary Vitreous, and other retina disc anomalies. Moreover, there is a lack of regional data in the kingdom of Saudi Arabia regarding these anomalies. In this sense, the current study consists of a literature review and a case series of posterior ophthalmic malformation to see if there is any difference in the spectrum of pathology presentation in KSA compared to other regions.</

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Bakri, Sophie J., Daniel Siker, Thomas Masaryk, Mark G. Luciano, and Elias I. Traboulsi. "Ocular malformations, moyamoya disease, and midline cranial defects: a distinct syndrome." American Journal of Ophthalmology 127, no. 3 (1999): 356–57. http://dx.doi.org/10.1016/s0002-9394(98)00317-1.

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El Ayari, Tahani, Anwar Mleiki, and Najoua Trigui El Menif. "Ocular tentacle regeneration and associated malformations in Stramonita haemastoma (Gastropoda: Muricidae)." Hydrobiologia 806, no. 1 (2017): 215–26. http://dx.doi.org/10.1007/s10750-017-3360-7.

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Millemann, Y., H. Benoit-Valiergue, J. P. Bonnin, J. J. Fontaine, and R. Maillard. "Ocular and cardiac malformations associated with maternal hypovitaminosis A in cattle." Veterinary Record 160, no. 13 (2007): 441–43. http://dx.doi.org/10.1136/vr.160.13.441.

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Pecorella, Irene, Vincenzo Novacco, Stefano DaDalt, Antonio Ciardi, Giuseppina Salvati, and Clemente Santillo. "Bilateral ocular malformations in a newborn with normal karyotype: Histologic findings." Annals of Diagnostic Pathology 6, no. 5 (2002): 319–25. http://dx.doi.org/10.1053/adpa.2002.35747.

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