Systemic anomalies in 77 patients with congenital anophthalmos or microphthalmos

Abstract

London SUMMARYCongenital anophthalmos and microphthalmos are rare conditions which can have associated pathology in the second eye and/or systemic anomalies. A retrospective review of 77 patients with congenital anophthalmos or microphthalmos seen at Moorfields Eye Hospital over a 13 year period was performed. A detailed description of the ocular and systemic anomalies present in our series of patients is given, and the current understanding of the pathogenesis of congenital anophthalmos and microphthalmos is reviewed.

Childhood blindness in Uzbekistan

“…19 Elder,2° in a study of microphthalmos among Palestinian blind children, noted that among the less severely microphthalmic (7-9 mm corneal diameter) the aetiology of blindness was most commonly cataract or coloboma of the retina and choroid, whereas those with more severe microphthalmos (4-6 mm corneal diameter) had an unattributable aetiology of blindness but the cornea was often involved. This is in agreement with the findings in this study, in which half of those with microphthalmos have visual loss due to cataract, coloboma or corneal pathology.…”

Recurrence of SOX2 anophthalmia syndrome with gonosomal mosaicism in a phenotypically normal mother

“…Anophthalmia may be seen as a component of recognizable syndromes [Bermejo and Martinez-Frias, 1998], of chromosomal abnormalities [Chitayat et al, 1996], or associated with other features without a known entity [Tucker et al, 1996]. Mendelian forms of anophthalmia can be inherited following an autosomal recessive, autosomal dominant, or X-linked inheritance [Morrison et al, 2002].…”

A practical guide to the management of anophthalmia and microphthalmia

“…There is a spectrum of disease that exists between these conditions. Both anophthalmia and microphthalmia may be unilateral or bilateral, and over 50% may be associated with systemic abnormalities 4 (and Ragge, unpublished data). In the case of unilateral anophthalmia or microphthalmia, there may be developmental anomalies of the other eye, including coloboma, lens, and optic nerve abnormalities.…”