Glaucoma damages the optic nerve and leads to total blindness. Multiple genetic factors affect the adult-onset of this disease. Early-onset is characterized by autosomal dominant or recessive inheritance. This study is aimed at studying the relatives of patients with inherited genetic diseases and cancers.
African-Caribbean glaucoma patients (203) from deprived areas were invited. They were asked to inform about first-degree relatives (FDR) over 30 years. Cascade screening and optical coherence tomography imaging were done. Glaucoma specialists reviewed the collected data. The study also conducted family doctor referrals of the suspected or diagnosed patients to a local specialist.
The team organized the screening for 248 FDR, identified as potential subjects. About 57 or 23% contacted the research team, and only 18 or 7% attended the screening later. No one was diagnosed with glaucoma, while one subject was a suspect. The patients did not like to involve their family members. Many retirees were holidaying overseas, and so the response to this study was inadequate.
The cascade screening on FDR of glaucoma patients was unsuccessful. The African-Caribbean relatives did not participate enthusiastically. Confidentiality guidelines hindered the research team. They could not get permission to meet the family members either. Inner-city London communities have to be engaged and screened through direct contact to achieve success.
Ref: https://bjo.bmj.com/content/early/2020/12/30/bjophthalmol-2020-317373
