Cornea, Ring Dermoid Clinical CharacteristicsOcular Features: Dermoids in this condition are found at the limbus extending onto the cornea anteriorly and into the conjunctiva posteriorly. They may be unilateral or bilateral and some contain functional hair follicles. They are present at birth and appear as raised yellow-white tissue which can be segmental or extend for the full limbal circumference. Some present as a dark ring around the cornea. The apophyses can be elevated 2-3mm and extend for 3-5mm laterally. Corneal changes, primary or secondary, lead to progressive vision loss in older individuals. Corneal distortion can result in significant astigmatism. Some patients have glaucoma and congenital cataracts. Histological studies have not been reported. Systemic Features: No systemic disease is part of this condition. GeneticsTwo families, one Peruvian and one Chinese, have been reported with autosomal dominant patterns of transmission. A G185A substitution in the PITX2 gene (4q25) cosegregated with the ocular disease in the Chinese family. PITX2 encodes a transcription factor important to the development of multiple organs including the eye. Mutations in this gene have also been found in patients with Peters anomaly (604229), a form of iris hypoplasia with goniodysgenesis (IRID2) (137600), and in Type 1 Axenfeld-Rieger syndrome (180500). Pedigree: Autosomal dominantTreatmentTreatment Options: Surgical excision may be necessary in patients with extensive disease. Patients need to be monitored for cataracts, amblyopia, and glaucoma. ReferencesArticle Title: Mutation in PITX2 is associated with ring dermoid of the cornea Xia K, Wu L, Liu X, Xi X, Liang D, Zheng D, Cai F, Pan Q, Long Z, Dai H, Hu Z, Tang B, Zhang Z, Xia J. Mutation in PITX2 is associated with ring dermoid of the cornea. J Med Genet. 2004 Dec;41(12):e129. PubMed ID: 15591271 Ring dermoid syndrome. A new syndrome of autosomal dominantly inherited, bilateral, annular limbal dermoids with corneal and conjunctival extension Mattos J, Contreras F, O'Donnell FE Jr. Ring dermoid syndrome. A new syndrome of autosomal dominantly inherited, bilateral, annular limbal dermoids with corneal and conjunctival extension. Arch Ophthalmol. 1980 Jun;98(6):1059-61 PubMed ID: 7387508 Read more about Cornea, Ring Dermoid
Mutation in PITX2 is associated with ring dermoid of the cornea Xia K, Wu L, Liu X, Xi X, Liang D, Zheng D, Cai F, Pan Q, Long Z, Dai H, Hu Z, Tang B, Zhang Z, Xia J. Mutation in PITX2 is associated with ring dermoid of the cornea. J Med Genet. 2004 Dec;41(12):e129. PubMed ID: 15591271
Ring dermoid syndrome. A new syndrome of autosomal dominantly inherited, bilateral, annular limbal dermoids with corneal and conjunctival extension Mattos J, Contreras F, O'Donnell FE Jr. Ring dermoid syndrome. A new syndrome of autosomal dominantly inherited, bilateral, annular limbal dermoids with corneal and conjunctival extension. Arch Ophthalmol. 1980 Jun;98(6):1059-61 PubMed ID: 7387508
