Colobomatous macrophthalmia with microcornea

Abstract

The ocular malformation of microcornea, uveal coloboma, high myopia, posterior staphyloma, and macrophthalmia was studied in a family. Clinical characteristics and ocular parameters, including refractive error and axial length, are summarized. The pedigree is consistent with autosomal dominant inheritance of the disorder; expressivity is variable. This unique malformation is differentiated from other well-recognized syndromes of colobomatous microphthalmia.

Microcornea associated with myopia

“…This disease is inherited in an autosomal dominant pattern, with a complete penetrance which involves microcornea, typical iris and chorioretinal coloboma, and axial myopia. The macula is affected in most cases by uveal coloboma and myopic degeneration [1,9].…”

Phacoemulsi f ication in the Case of Colobomatous Macrophtalmos with Microcornea Syndrome

“…The findings of our case are fully compatible with this syndrome. In addition Batemann et al [2] reported case series showing autosomal dominant inheritance, while sporadic cases have also been reported such as in our case [6] . Cataract and retinal detachment are one of the most frequent ocular pathologies showing coexistence with coloboma [7] .…”

“…However coexistence of macroftalmia with coloboma is a very rare condition. For the first time in 1984, Bateman at al [2] mentioned colobomatous macrophtalmos with microcornea syndrome. They described this syndrome by the combination of microcornea (the most extensive corneal diameter is less than or equal to 10 mm), uveal coloboma (iris, choroid, retina and/or optic nerve head can be affected), an increase in axial lenght of globe and myopia.…”

“…More than half of the cases are bilateral.The other findings that are associated with coloboma are astigmatism, microphtalmia, microcornea, iris/cilier body coloboma, choroidal detachment, persistent fetal vascularization, retinal dysplasia, retinoschisis and retinal detachment [1] . Colobomatous macrophtalmos with microcornea syndrome which is characterized by microcornea, retinochoroidal coloboma, increased axial length of the globe and myopia is a very rare condition, it is mostly inherited in autosomal dominant pattern with variable expression [2,3] . This syndrome may be accompanied by cornea plana, iridocorneal angle anomalies, shallow anterior chamber and increased intraocular pressure [4] .…”

A Case of Retinal Detachment in Colobomatous Macrophthalmos With Microcornea Syndrome

“…Colobomatous macropthamia with microcornea syndrome is a very rare eye malformation characterized by microcornea, uveal coloboma, axial enlargement of the globe, and myopia 1. Other associated findings are mild cornea plana, iridocorneal angle abnormalities with increased intraocular pressure, and relatively shallow anterior chamber depth 2…”