A clinical perspective of childhood glaucoma: an exploration of genotypes, phenotypes, and quality of life

Author: Lachlan Wheelhouse Knight

Wheelhouse Knight, Lachlan, 2023 A clinical perspective of childhood glaucoma: an exploration of genotypes, phenotypes, and quality of life, Flinders University, College of Medicine and Public Health

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Childhood glaucoma describes a group of chronic vision-threatening conditions with disease-onset occurring between birth and 18 years. It is a leading cause of irreversible childhood vision impairment and blindness and is typically associated with genetic variants with a Mendelian pattern of inheritance, some of which are known to be associated with systemic disease or a syndrome. Childhood glaucoma requires complex and specialised lifelong surgical and conservative management, and if the disease is not treated promptly, irreversible vision-impairment or blindness is the likely outcome. Treatment does not guarantee a safeguard from visual morbidity and close monitoring throughout one’s lifespan is required. This means that childhood glaucoma has the potential to cause a considerable impact on quality of life for the individual and their caregivers at any time. Despite this, evidence-based clinical practice guidelines for the multidisciplinary management of childhood glaucoma do not yet exist. Instead, current guidelines are largely based on clinician experience and consensus. This is the result of several gaps in knowledge regarding the ocular and systemic phenotypic heterogeneity of childhood glaucoma, the genetic landscape of the condition, the impact of the condition on family planning, and the impact of the condition on the quality of life of children and adults with childhood glaucoma, and their caregivers. This thesis addressed these gaps in knowledge to help inform the management of childhood glaucoma. My original contributions to knowledge included the delineation of the phenotypic and genotypic heterogeneity of childhood glaucoma in the largest population of predominantly European ancestry and a novel report of the long-term clinical outcomes in the two genes most commonly implicated in congenital-onset glaucoma: CYP1B1 and TEK. I further provided an original exploratory analysis of the systemic associations of childhood glaucoma with respect to the underlying molecular diagnoses. In addition, I provided a novel and in-depth insight of the psychosocial implications of childhood glaucoma from the perspectives of children and adults with the condition, and their caregivers. This resulted in the successful development of the first childhood glaucoma patient-reported outcome measure that can provide an accurate assessment of quality of life in adults with childhood glaucoma: the CGQoL-14. This translational research has led to a proposed framework for a family-centred multidisciplinary approach to the management of childhood glaucoma. This will serve to ensure that any individual impacted by childhood glaucoma is provided with the highest level of care and achieves the best possible clinical and quality of life outcomes.

Keywords: childhood glaucoma, glaucoma, genetic testing, quality of life, qualitative interviews, patient-reported outcome measure, Rasch analysis

Subject: Ophthalmology thesis

Thesis type: Doctor of Philosophy
Completed: 2023
School: College of Medicine and Public Health
Supervisor: Professor Jamie Craig