Ring Dermoid Syndrome

Mattos, J. V.

doi:10.1001/archopht.1980.01020031049007

Cited by 39 publications

(11 citation statements)

References 9 publications

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“…Several authors have also noted a higher occurrence of corneal der moid in St. Bernards than in other breeds of dogs [1,[4][5][6]121. In humans, the appearance of corneal dermoid across three generations of a single family has been reported by Mattos and his colleagues [10].…”

mentioning

confidence: 45%

Corneal Dermoid in Two Laboratory Beagle Dogs

Horikiri

Ozaki

Maeda

et al. 1994

Experimental Animals

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confidence: 45%

Corneal Dermoid in Two Laboratory Beagle Dogs

Horikiri

Ozaki

Maeda

et al. 1994

Experimental Animals

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“…In humans, one report connected a missense mutation in PITX2 , p.(Arg62His), with ring dermoid of the cornea [MIM180550] in a large Chinese pedigree ( 12 , 60 , 61 ). Genetic studies in other human pedigrees affected with corneal dermoid and related phenotypes ( 62 ) may provide additional information about possible other PITX2 mutations in these conditions. Also, the data presented in this manuscript provide further support for the interaction between PITX2 and the WNT pathway and encourage further investigation into their relationship (see below).…”

Section: Discussionmentioning

confidence: 99%

PITX2 deficiency and associated human disease: insights from the zebrafish model

Hendee

Сорокина

Muheisen

et al. 2018

Human Molecular Genetics

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The PITX2 (paired-like homeodomain 2) gene encodes a bicoid-like homeodomain transcription factor linked with several human disorders. The main associated congenital phenotype is Axenfeld-Rieger syndrome, type 1, an autosomal dominant condition characterized by variable defects in the anterior segment of the eye, an increased risk of glaucoma, craniofacial dysmorphism and dental and umbilical anomalies; in addition to this, one report implicated PITX2 in ring dermoid of the cornea and a few others described cardiac phenotypes. We report three novel PITX2 mutations—c.271C > T, p.(Arg91Trp); c.259T > C, p.(Phe87Leu); and c.356delA, p.(Gln119Argfs*36)—identified in independent families with typical Axenfeld-Rieger syndrome characteristics and some unusual features such as corneal guttata, Wolf-Parkinson-White syndrome, and hyperextensibility. To gain further insight into the diverse roles of PITX2/pitx2 in vertebrate development, we generated various genetic lesions in the pitx2 gene via TALEN-mediated genome editing. Affected homozygous zebrafish demonstrated congenital defects consistent with the range of PITX2-associated human phenotypes: abnormal development of the cornea, iris and iridocorneal angle; corneal dermoids; and craniofacial dysmorphism. In addition, via comparison of pitx2M64* and wild-type embryonic ocular transcriptomes we defined molecular changes associated with pitx2 deficiency, thereby implicating processes potentially underlying disease pathology. This analysis identified numerous affected factors including several members of the Wnt pathway and collagen types I and V gene families. These data further support the link between PITX2 and the WNT pathway and suggest a new role in regulation of collagen gene expression during development.

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“…This study showed that these lesions may sometimes be associated with other ocular findings, including scleral/corneal staphyloma, aniridia, congenital aphakia, cataract, and microphthalmia 9. It has been reported that choristomas may or may not be associated with systemic conditions and other syndromes, such as ring dermoid syndrome with conjunctival extension, preauricular tags, palpebral coloboma, Goldenhar’s syndrome (preauricular fistulae, preauricular appendages, and epibulbar dermoids or lipodermoids), and the mandibulofacial dysostosis of Franceschetti syndrome 9,10. Goldenhar’s syndrome has been expanded further to include vertebral anomalies and is now named Goldenhar-Gorlin syndrome 9.…”

Section: Histopathology Incidence and Pathogenesismentioning

confidence: 99%

Management of pediatric corneal limbal dermoids

Pirouzian¹

2013

OPTH

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This paper reviews the data in the published literature (PubMed from 1937 to 2011) concerning the medical and surgical management of pediatric limbal dermoids. Current standard medical treatment for grade I pediatric limbal dermoids (ie, with superficial corneal involvment) is initially conservative. In stages II (ie, affecting the full thickness of the cornea with/without endothelial involvement) and III (ie, involvement of entire cornea and anterior chamber), a combination of excision, lamellar keratoplasty, and amniotic membrane and limbal stem cell tranplantation are advocated. Combinations of these approaches seem to yield better and more stable long-term ocular surface cosmesis and fewer complications in comparison with traditional methods of excision and lamellar keratoplasty. Management of amblyopia (i.e. occlusion treatment, chemical penalization with/without spectacle wear, etc) must continue after surgical excision to yield optimal results when or if the surgery is done at a younger age.

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Ring Dermoid Syndrome

Cited by 39 publications

References 9 publications

Corneal Dermoid in Two Laboratory Beagle Dogs

Corneal Dermoid in Two Laboratory Beagle Dogs

PITX2 deficiency and associated human disease: insights from the zebrafish model

Management of pediatric corneal limbal dermoids

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