University of Tasmania
whole_GreenCatherineMary_thesis.pdf (9.23 MB)

How significant is a family history of primary open angle glaucoma? : experience from the Glaucoma Inheritance Study in Tasmania

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posted on 2023-05-26, 21:06 authored by Green, CM
AIM: To determine the prevalence of a familial glaucoma amongst glaucoma sufferers in Tasmania. METHODS: With the cooperation of ophthalmologists, optometrists and pharmacists in Tasmania, patients diagnosed with glaucoma and their family members were identified and invited to participate in the study. All patients gave informed consent and a detailed questionnaire was administered. Family history of POAG was noted and pedigrees constructed with the help of a research genealogist. Each participant underwent a detailed examination, including visual acuity, TOP, gonioscopy, disc assessment and visual field testing. A score (termed the GIST score) was given to each patient which denotes the probability of the diagnosis of POAG being present. Subjects were classified as normal, suspect or POAG. Age-matched, unaffected participants in the Twins Eye Study in Tasmania were used as a control group. RESULTS: A total of 1702 POAG patients were identified. 1014 patients belonged to families in which other members were affected (familial glaucoma). 688 patients did not have a known family history of POAG (sporadic glaucoma). The size of the family groups varied from 2 to 29 affected individuals. The patients in the familial group had higher GIST scores than those in the sporadic group. Only 24% of the participants in the control group had a family history of glaucoma. CONCLUSIONS: 59.6% of POAG in Tasmania is familial. This percentage is higher than most previous reports of familial glaucoma and emphasises the importance of genetics in POAG. Patients with familial glaucoma had higher GIST scores, which may reflect an earlier onset and/or higher severity of glaucoma in the familial group. This has important implications for glaucoma screening and for further research in glaucoma genetics.


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Copyright 2006 the Author - The University is continuing to endeavour to trace the copyright owner(s) and in the meantime this item has been reproduced here in good faith. We would be pleased to hear from the copyright owner(s). Thesis (MMedSc)--University of Tasmania, 2006. Includes bibliographical references. Background. Ch. 1. Introduction -- Ch. 2. Definition of glaucoma and classification -- Ch. 3. Glaucoma: a familial disease -- Ch. 4. Epidemiology of primary open angle glaucoma -- Ch. 5. Family history in the context of epidemiological studies -- Ch. 6. The genetics of primary open angle glaucoma -- Ch. 7. Background of the Glaucoma Inheritance Study inTasmania -- Methods -- Results -- Discussion -- Conclusions

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