Eye Abnormalities (Eye Abnormality)

03/01/2014 - "Two patients with PHACES (posterior fossa malformations, haemangiomas, arterial anomalies, coarctation of the aorta/cardiac abnormalities, eye anomalies and sternal defects/supraumbilical raphe) syndrome were treated with lower than standard doses, because of concern about possible cerebrovascular compromise. "
09/01/2011 - "PHACE (posterior fossa defects, haemangioma, arterial anomalies, coarctation of the aorta and cardiac defects, eye abnormalities) syndrome describes a constellation of abnormalities that can occur in association with segmental craniofacial infantile haemangioma. "
09/01/2010 - "Large facial haemangiomas have a high rate of complications and can be associated with neurological, ophthalmological and cardiac abnormalities (PHACE syndrome; Posterior fossa malformations, Haemangiomas, Arterial anomalies, Coarctation of the aorta and cardiac defects, and Eye abnormalities). "
06/01/2012 - "Ten female patients met study inclusion criteria; 8 were Caucasian, 9 had a facial segmental hemangioma, and 9 cases met the diagnostic criteria for definitive posterior fossa malformations, hemangioma, arterial lesions, cardiac anomalies/coarctation of the aorta and eye abnormalities syndrome with abnormalities of the aorta and cerebral arteriopathy. "
11/15/2015 - "PHACE syndrome is a disorder that features posterior fossa malformations, hemangiomas, arterial anomalies, coarctation of the aorta and cardiac defects, and eye abnormalities. "

12/01/1989 - "A five year study of the malformations Registry of the Rhone-Alpes-Auvergne-Jura area shows that the association between renal agenesis and syndactyly (with or without the eye abnormalities) is quite rare. "

10/08/2010 - "It is known that glycosylation of dystroglycan is necessary for its ligand binding activity, and hypoglycosylation is associated with a group of muscular dystrophies that often involve eye abnormalities. "
08/01/2008 - "Walker-Warburg Syndrome (WWS) is an alpha-dystroglycan deficient congenital muscular dystrophy that is associated with brain and eye abnormalities. "
01/01/2006 - "It is associated with type II cobblestone lissencephaly, hydrocephalus, cerebellar malformations, eye abnormalities and congenital muscular dystrophy characterized by hypoglycosylation of alpha-dystroglycan. "
06/01/2007 - "Recently, mutations of the genes encoding putative glycosyltransferases were identified in several forms of congenital muscular dystrophies accompanied by brain anomalies and eye abnormalities, and aberrant glycosylation of alpha-dystroglycan has been implicated in their pathogeneses. "
07/01/2003 - "Mutations disrupting the interaction of extra-cellular ligands and alpha-dystroglycan are responsible for an etiologically heterogeneous group of autosomal recessive congenital muscular dystrophies (CMD) that can have associated brain and eye abnormalities. "

01/01/2015 - "Retinal dysfunction (prolongation of peak latency for oscillatory potential in electroretinograms) and histopathological eye abnormalities, including retinal folding and mature cataracts were also observed. "
04/01/2000 - "Adult homozygous lap mice show various eye abnormalities such as aphakia, retinal disorganization, and dysplasia of the cornea and anterior chamber. "
08/01/1998 - "Adult homozygous lap mice show various eye abnormalities, such as aphakia, retinal disorganization, and dysplasia of the cornea and anterior chamber. "
04/01/1981 - "The eyes of 160 Collies were examined for Collie Eye Anomaly, Progressive Retinal Atrophy, and any other eye abnormality present. "
02/01/1995 - "Histologic observations of 30-day-old and adult mutant mice revealed various eye abnormalities such as microphthalmia, aphakia, absence of the anterior chamber, dystrophy of the cornea and vitreous body, and retinal disorganization. "

07/01/2015 - "Posterior fossa malformations-haemangiomas-arterial anomalies-cardiac defects-eye abnormalities-sternal cleft and supraumbilical raphe syndrome (also known as PHACES syndrome) is a rare neurocutaneous disorder. "
07/01/2014 - "Individuals with PHACE syndrome (posterior fossa malformations, hemangiomas, arterial anomalies, cardiac defects, eye abnormalities, sternal cleft, and supraumbilical raphe syndrome) have reported dental abnormalities to their healthcare providers and in online forums, but dental involvement has not been comprehensively studied. "
09/01/2010 - "The segmental distribution of a subgroup of infantile haemangioma, especially those associated with midline structural anomalies that constitute posterior fossa malformations-hemangiomas-arterial anomalies-cardiac defects-eye abnormalities-sternal cleft and supraumbilical raphe syndrome (PHACES), led us to investigate whether neural crest cells might be involved in the aetiology of this tumour. "
07/01/2000 - "To discuss the current knowledge regarding complicated hemangiomas (cervicofacial, periorbital, lumbosacral, and parotid), including the associated syndromes of diffuse neonatal hemangiomatosis and PHACES (posterior fossa malformations, most commonly of the Dandy-Walker variant; hemangiomas [especially large, plaquelike, facial lesions]; arterial anomalies; cardiac anomalies and coarctation of the aorta; eye abnormalities; and sternal cleft and/or supraumbilical raphe). "

05/01/1998 - "Developmental eye abnormalities in mouse fetuses induced by retinoic acid."
02/01/1998 - "To identify the critical time for developmental eye abnormalities, pregnant C 57 BL/6 NJcl mice were injected intraperitoneally once with 12.5 mg/kg of retinoic acid on days 7 (day-7 group), 8 (day-8 group), 9 (day-9 group), 10 (day-10 group), and 11 (day-11 group) of pregnancy. "
02/01/1998 - "[Critical time for developmental eye abnormalities induced by retinoic acid in mouse fetuses]."
04/01/1997 - "[Developmental eye abnormalities in mouse fetuses induced by retinoic acid]."
05/01/1998 - "To clarify the relationship between neural crest cells and various developmental eye abnormalities, pregnant mice were administered an intraperitoneal injection of 12.5 mg/kg retinoic acid (RA) suspended in corn oil on day 7 of pregnancy (RA group). "

11/01/2015 - "We noted enlargement of the internal auditory canal in several of our patients with posterior fossa malformations, hemangiomas, arterial anomalies, cardiac defects, eye abnormalities, and sternal or supraumbilical defects (PHACES) association and hence evaluated children with PHACES for the presence of an enlarged internal auditory canal and potential associated findings, including infantile hemangioma within the internal auditory canal, to understand the genesis of this enlargement. "
04/01/2008 - "We present neuroradiologic findings in 17 patients with posterior fossa malformations, hemangiomas, arterial anomalies, cardiac defects, eye abnormalities, and sternal or ventral defects (PHACES) association and identify those at highest risk of central nervous system (CNS) structural, cerebrovascular, and neurodevelopmental abnormalities. "
03/01/2006 - "PHACE association is a rare neurocutaneous syndrome that may include posterior fossa malformations, hemangiomas, arterial anomalies, coarctation of the aorta and cardiac defects, eye abnormalities, and sternal defects. "

03/01/2008 - "Distinct eye abnormalities have been described in children with nephrotic syndrome, particularly in diffuse mesangial sclerosis (i.e. "
02/15/2007 - "Pierson syndrome is an autosomal recessive disorder comprising congenital nephrotic syndrome with diffuse mesangial sclerosis and distinct eye abnormalities with microcoria reported as the most prominent clinical feature. "
03/01/2006 - "To describe the prenatal findings in Pierson syndrome, a newly defined autosomal recessive entity, comprising congenital nephrotic syndrome (CNS) with diffuse mesangial sclerosis and distinct eye abnormalities due to LAMB2 mutations. "

01/01/2006 - "Mutations in the LAMB2 gene encoding laminin beta2, a component of the glomerular basement membrane and the neuro-muscular junction are responsible for the characteristic renal and eye abnormalities of Pierson syndrome. "
02/15/2007 - "Pierson syndrome is an autosomal recessive disorder comprising congenital nephrotic syndrome with diffuse mesangial sclerosis and distinct eye abnormalities with microcoria reported as the most prominent clinical feature. "
03/01/2006 - "To describe the prenatal findings in Pierson syndrome, a newly defined autosomal recessive entity, comprising congenital nephrotic syndrome (CNS) with diffuse mesangial sclerosis and distinct eye abnormalities due to LAMB2 mutations. "

02/15/1994 - "Mice harboring the waved-1 (wa-1) and waved-2 (wa-2) mutations exhibit skin and eye abnormalities that are strikingly similar to those of TGF-alpha-deficient mice, and wa-1 and TGF-alpha were recently shown to be allelic. "
04/23/1993 - "TGF alpha deficiency results in hair follicle and eye abnormalities in targeted and waved-1 mice."

10/01/2014 - "Airway management and anesthesia in posterior fossa malformations, hemangiomas, arterial anomalies, coarctation of the aorta and cardiac defects and eye abnormalities syndrome: A case with laryngotracheal hemangiomas."

01/01/2012 - "X-linked Alport syndrome (XLAS) is caused by mutations in type IV collagen causing sensorineural hearing loss, eye abnormalities, and progressive kidney dysfunction that results in near universal end-stage renal disease (ESRD) and the need for kidney transplantation in affected males. "

08/01/2008 - "This paper discusses the various techniques available namely, computed tomography, confocal laser scanning microscopy, magnetic resonance imaging, optical coherence tomography, ultrasound imaging, infrared thermography for the imaging of the different eye abnormalities."

05/01/1998 - "To clarify the relationship between neural crest cells and various developmental eye abnormalities, pregnant mice were administered an intraperitoneal injection of 12.5 mg/kg retinoic acid (RA) suspended in corn oil on day 7 of pregnancy (RA group). "

10/01/2014 - "Airway management and anesthesia in posterior fossa malformations, hemangiomas, arterial anomalies, coarctation of the aorta and cardiac defects and eye abnormalities syndrome: A case with laryngotracheal hemangiomas."