ABSTRACT
We describe the phenotype of a male infant with an interstitial deletion of the short arm of chromosome 8 (p. 11.2-p. 21). Visual impairment is a major feature in this case. The clinical, radiographic and electrodiagnostic findings are presented. Only four other cases have been reported in which visual problems are associated with a deletion of 8 p.
Subject(s)
Chromosome Deletion , Chromosomes, Human, Pair 8/genetics , Vision Disorders/genetics , Humans , Infant, Newborn , Karyotyping , Male , Vision Disorders/diagnosisABSTRACT
BACKGROUND: Opticin is a recently discovered glycoprotein present predominantly in the vitreous humour. It is synthesised and secreted by the ciliary body epithelium (CBE) from the initiation of CBE development in the embryo, and production continues throughout life. AIM: To determine whether a variety of ciliary body tumours synthesise opticin to characterise further its role in ciliary body health and disease. METHODS: Immunohistochemistry was used to determine the distribution of opticin in normal human CBE, and in hyperplastic and neoplastic CBE lesions. RESULTS: Opticin was immunolocalised to the basal cell surface and basement membrane material of the non-pigmented CBE in nine donor eyes as well as four hyperplastic lesions of the CBE (Fuchs's adenoma). By contrast, none of eight neoplastic lesions (two adenoma and six adenocarcinoma) of CBE stained for opticin. CONCLUSION: The present series supports the theory that opticin is produced by the non-pigmented CBE throughout adult life. Loss of opticin expression by this tissue is associated with and could contribute towards neoplastic transformation.
