Axenfeld‐Rieger syndrome

Seifi, Morteza; Walter, Michael A.

doi:10.1111/cge.13148

Cited by 120 publications

(142 citation statements)

References 63 publications

(120 reference statements)

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“…The FOXC1 gene, included within the deletion discussed here, encodes the FOXC1 transcription factor, which influences neural crest cell development during embryogenesis [4]. This gene is expressed in the brain, eye, heart, and kidney tissues in both embryos and adults, which explains the number of structures affected by its deletion [13]. Further, this gene is involved in pericyte development and defects in its function are associated with large, dysplastic vessels in animal models [6, 8].…”

Section: Discussionmentioning

confidence: 99%

Deletion of 6p25.3 Is Associated with Cerebrovascular Dolichoectasia: Report of 2 Cases

et al. 2019

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Developmental dolichoectasia of the intracranial vessels is a rare occurrence. The authors report 2 sibling pediatric patients who were born with 6p25.3 deletion, associated with carotid and vertebrobasilar dolichoectasia. MRI imaging of both children showed asymptomatic elongation and dilation of the vertebrobasilar system and “kissing” carotid arteries. A microarray analysis was also performed for both patients, which identified a 1.5-Mb deletion of 6p25.3 covering 15 genes including FOXC1, which has been implicated in defects in vascular morphogenesis.

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Section: Discussionmentioning

confidence: 99%

Deletion of 6p25.3 Is Associated with Cerebrovascular Dolichoectasia: Report of 2 Cases

et al. 2019

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“…7 Esta anomalía abarca una serie de trastornos tanto oculares como sistémicos, 12 puede presentarse con anomalías presentes particularmente en el iris, la córnea y en la cámara angular. Este proceso usualmente es bilateral 13 como en el caso de la paciente en la cual se evidencia la presencia de un embriotoxon en ambos ojos.…”

Section: Discussionunclassified

“…13 Se sugiere que esta condición se debe a un defecto en el tejido ectodérmico en la cual las células de la cresta neural que forman el ojo, los huesos faciales, los dientes, la piel que rodea el ombligo y el sistema cardiovascular están severamente dañadas o experimentan un crecimiento restringido.…”

Section: Discussionunclassified

Hipertensión ocular asociada a malformaciones craneofaciales: Síndrome de Axenfeld-Rieger (SAR): Reporte de un caso

Arcos

Marin

Cordero

2017

Salud

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ResumenLas anomalías del desarrollo embrionario de la cámara anterior ocular y su ángulo que se deben a un desarrollo defectuoso de las estructuras que conforman la salida normal del humor acuoso, incluyen el SAR, cuya prevalencia es de uno cada 200.000 individuos. Se asocia a glaucoma secundario, en un 50 % de los casos. El daño progresivo e irreversible que se produce en el nervio óptico por aumentos sostenidos de la presión intraocular (PIO), se traduce funcionalmente en una alteración en los campos visuales atentado negativamente en la calidad de vida de estos pacientes. El caso que se toma para el artículo es una paciente de sexo femenino, de 20 años, con hipoplasia de maxilar inferior y alteraciones dentarias, consulta por dificultad en la visión. Como estudio complementario se realizó estudio de campo visual computarizado el cual arrojo en ambos ojos patrón mixto, dicho patrón se obtiene de la suma de un defecto escotomatoso y otro difuso. La presencia de embriotoxon posterior con PIO aumentada, y de alteraciones maxilares y dentales lleva al diagnóstico clínico de Síndrome de Axenfeld-Rieger. Es de suma importancia para médicos clínicos, pediatras, oftalmólogos y odontólogos el conocimiento de la patología y de sus manifestaciones, para lograr una identificación precoz de los pacientes que permitan un seguimiento adecuado, previniendo lesiones visuales irreversibles causadas por el glaucoma secundario, con una mejoría de la calidad de vida de los mismos.Palabras clave: Glaucoma Secundario, Embriotoxon, Malformaciones, Presión Intraocular. AbstractThe anomalies of the embryonic development of the anterior ocular chamber and its angle that are due to a defective development of the structures that make up the normal exit of the aqueous humor, include the SAR, whose prevalence is one in 200,000 individuals. It is associated with secondary glaucoma, in 50 % of cases. The progressive and irreversible damage that occurs in the optic nerve due to sustained increases in intraocular pressure (IOP), is functionally translated into an alteration in the visual fields, negatively affecting the quality of life of these patients. The case that is taken for the article is a female patient, 20 years old, with hypoplasia of lower jaw and dental alterations, consultation due to difficulty in vision. As a complementary study, a computerized visual field study was conducted, which showed mixed pattern in both eyes. This pattern is obtained from the sum of a scotomatous and diffuse defect. The presence of a posterior embryotoxon with increased IOP, and of maxillary and dental alterations leads to the clinical diagnosis of Axenfeld-Rieger syndrome. It is very important for clinicians, pediatricians, ophthalmologists and dentists knowledge of the pathology and its manifestations, to achieve an early identification of patients that allow adequate follow-up, preventing irreversible visual injuries caused by secondary glaucoma, with an improvement of their quality of life.

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“…A hypophysis fejlődését szabályozó legismertebb transzkripciós faktorok szerepét, a defektusuk által okozott kórképeket és öröklődésmenetüket az 1. táblázat-ban foglaljuk össze [5][6][7][8][9][10][11][12][13][14].…”

Section: Az Adenohypophysis Embrionális Fejlődését Szabályozó Mechaniunclassified

Genetikai tényezők a hypopituitarismus kialakulásában. A transzkripciós faktorok szerepe az agyalapimirigy-elégtelenség hátterében

et al. 2018

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A hypothalamohypophysealis rendszer fejlődési rendellenességei klinikai megjelenésükben sokszínű hypophysiselég-telenséggel járhatnak. Ezen fejlődési rendellenességek jelentős részét a hypophysis organogenezisét szabályozó transzkripciós faktorok genetikai hibái okozhatják. Az agyalapi mirigy fejlődésének korai szakaszában expresszálódó transzkripciós faktorokat kódoló gének mutációi olyan összetett fejlődési rendellenességekhez vezethetnek, amelyekben a hypopituitarismushoz egyéb központi idegrendszeri malformációk is társulnak. Az organogenezis későbbi szakaszát szabályozó transzkripciós faktorok genetikai eltérései jellemzően többszörös, ritkán izolált agyalapi mirigy hormonhiányt okoznak extrahypophysealis manifesztáció nélkül. A hypophysistranszkripciós faktorok genetikai defektusainak azonosítása segítséget adhat a hormonhiányok előrejelzésében és az érintett családtagok szűrésében. Egyes hypophysistranszkripciós faktorok expressziója felnőttkorban is kimutatható, aminek fontos klinikai jelentősé-ge van a hypophysisadenomák WHO által ajánlott új rendszerű, ezen faktorok expresszióját is figyelembe vevő osztályozásában. Orv Hetil. 2018; 159(7): 278-284. Kulcsszavak: veleszületett hypopituitarismus, hypophysistranszkripciós faktorok, hypophysisadenoma Genetic factors in hypopituitarism. The role of transcription factors in pituitary hormone deficiencyDevelopmental disorders affecting the hypothalamic-pituitary system can result in pituitary hormone deficiency showing a diverse clinical presentation. A significant majority of these disorders are closely linked to defects in transcription factor genes which play a major role in pituitary development. Those affecting the early phase of organogenesis typically lead to complex conditions affecting the pituitary as well as structures in the central nervous system. Transcription factors involved in the late phase can result in combined but rarely isolated pituitary hormone deficiency without extra-pituitary manifestation. Identifying the defects in these pituitary transcription factor genes may provide a useful tool in predicting disease progression as well as screening family members. Several pituitary transcription factors can be detected in the adult gland as well which is strongly emphasized in the World Health Organization's most recent guideline for pituitary tumor classification. Our review summarizes the current essential knowledge relevant for clinical endocrinologists.

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Axenfeld‐Rieger syndrome

Cited by 120 publications

References 63 publications

Deletion of 6p25.3 Is Associated with Cerebrovascular Dolichoectasia: Report of 2 Cases

Deletion of 6p25.3 Is Associated with Cerebrovascular Dolichoectasia: Report of 2 Cases

Hipertensión ocular asociada a malformaciones craneofaciales: Síndrome de Axenfeld-Rieger (SAR): Reporte de un caso

Genetikai tényezők a hypopituitarismus kialakulásában. A transzkripciós faktorok szerepe az agyalapimirigy-elégtelenség hátterében

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