Leber hereditary optic neuropathy (LHON), is a rare inherited condition which causes sudden vision loss. People are usually young adults with LHON symptoms start, beginning as painless blurriness in one eye first, followed a few weeks later by the other eye with sight further deteriorating in both eyes. There is no cure for LHON. People with LHON receive supportive management and treatment through the usage of visual aids, occupational rehabilitation, and local social services.
We plan to conduct an observational study using anonymous data from GP and hospital records to better understand the pattern of LHON disease, it’s impact on mental health among those with the condition, and the associated health care resource use in England. Specifically, we will estimate the annual incidence and prevalence of LHON between 2007 and 2021 and describe the demographic and clinical characteristics of individuals at the time of LHON diagnosis. We will describe the time and pathway from when patients first present to healthcare services with LHON symptoms until diagnosis. We will describe the impact of LHON on the mental health of people with the condition by identifying new diagnosis of depression, anxiety, substance misuse and self-harm.
LHON is a rare mitochondrial disease that leads to selective degeneration of retinal ganglion cells and optic nerve atrophy. Detailed exploration of LHON epidemiology and management using real world data is required for improved treatment and management options in healthcare settings across England.
We aim to conduct a descriptive retrospective cohort study using linked data CPRD, HES and ONS data to investigate the epidemiology and healthcare resource use (HCRU) of LHON with the aim of raising awareness of LHON and LHON patient profile among medical professionals. Our primary objective is to estimate the annual incidence and prevalence of LHON stratified by age. To understand the characteristics of those diagnosed with LHON, we will describe the baseline demographics, lifestyle, and clinical profile of CPRD captured patients. We will describe the time and pathway to LHON diagnosis by examining the type of healthcare service first presented to including primary care and accident and emergency as well as the number of relevant specialty outpatient appointments, such as ophthalmology and neurology, attended before formal diagnosis is recorded. We will describe the HCRU and associated cost for both primary and secondary care among individuals with LHON. Furthermore, we will investigate the occurrence of mental health outcomes for individuals with LHON, which will include depression, substance abuse, anxiety, and self-harm.
Time from referral to diagnosis; HCRU and cost in primary care using CPRD data and secondary care using HES APC, HES OP and HES A&E; Mental health related outcomes (depression, anxiety, substance abuse and self-harm)
Jennifer Davidson - Chief Investigator - Health iQ Ltd ( UK ) t/a CorEvitas
Caitlin Winton - Corresponding Applicant - Health iQ Ltd ( UK ) t/a CorEvitas
Archie Farrer - Collaborator - Health iQ Ltd ( UK ) t/a CorEvitas
Boglarka Kovacs - Collaborator - Health iQ Ltd ( UK ) t/a CorEvitas
Gulsah Akin Unal - Collaborator - Health iQ Ltd ( UK ) t/a CorEvitas
Judith Ruzangi - Collaborator - Health iQ Ltd ( UK ) t/a CorEvitas
Mico Hamlyn - Collaborator - Health iQ Ltd ( UK ) t/a CorEvitas
Seth Jarvis - Collaborator - Health iQ Ltd ( UK ) t/a CorEvitas
Simon Wan Yau Ming - Collaborator - Health iQ Ltd ( UK ) t/a CorEvitas
Gulsah Akin Unal - Collaborator - Health iQ Ltd ( UK ) t/a CorEvitas
HES Accident and Emergency;HES Admitted Patient Care;HES Outpatient;ONS Death Registration Data;Patient Level Index of Multiple Deprivation