K H Weed1, C J MacEwen, C N J McGhee. 1. Ophthalmology Department, Ninewells Hospital and Medical School, Dundee, Scotland DD1 9SY, United Kingdom. k.h.weed@dundee.ac.uk
Abstract
INTRODUCTION: As part of a longitudinal observational prospective study (Dundee University Scottish Keratoconus Study, DUSKS) a caucasian female subject was identified with keratoconus affecting both corneas. Of interest was that the subject's mother was a monozygotic twin, however, the mother was reportedly unaffected by keratoconus, although her sister (the subject's aunt) had been diagnosed with keratoconus. METHOD: Computer video-keratoscopy (CVK) was undertaken was on this family to clarify this apparent discordance. RESULTS: CVK demonstrated the variable expression of the keratoconic phenotype, by identifying evidence of subclinical keratoconus in the 'unaffected' twin. CONCLUSION: So far only one set of monozygotic twins with keratoconus have been reported within the UK, this paper reports a second. Since CVK has been available the majority agree on concordance of keratoconus expression but not all, including this study. If monozygotic twin studies demonstrate heterogeneity of keratoconus this may at least explain the contradictory data that exists within the literature and why the inheritance pattern of keratoconus is still unclear in 2005.
INTRODUCTION: As part of a longitudinal observational prospective study (Dundee University Scottish Keratoconus Study, DUSKS) a caucasian female subject was identified with keratoconus affecting both corneas. Of interest was that the subject's mother was a monozygotic twin, however, the mother was reportedly unaffected by keratoconus, although her sister (the subject's aunt) had been diagnosed with keratoconus. METHOD: Computer video-keratoscopy (CVK) was undertaken was on this family to clarify this apparent discordance. RESULTS: CVK demonstrated the variable expression of the keratoconic phenotype, by identifying evidence of subclinical keratoconus in the 'unaffected' twin. CONCLUSION: So far only one set of monozygotic twins with keratoconus have been reported within the UK, this paper reports a second. Since CVK has been available the majority agree on concordance of keratoconus expression but not all, including this study. If monozygotic twin studies demonstrate heterogeneity of keratoconus this may at least explain the contradictory data that exists within the literature and why the inheritance pattern of keratoconus is still unclear in 2005.
Authors: Dulceria Costa da Silva; Bianca Nery Benevides Gadelha; Alex Felipe Barbosa Feitosa; Rafaela Gomes da Silva; Tarsila Livia Paz E Albuquerque; Débora Christina Pereira Fernandes Santos; Diego Nery Benevides Gadelha; Bruno Luiz Fonseca Schamber-Reis Journal: J Ophthalmic Vis Res Date: 2018 Jul-Sep
Authors: Vishal Shinde; Nara Sobreira; Elizabeth S Wohler; George Maiti; Nan Hu; Giuliana Silvestri; Sonia George; Jonathan Jackson; Aravinda Chakravarti; Colin E Willoughby; Shukti Chakravarti Journal: Hum Mol Genet Date: 2021-05-17 Impact factor: 6.150