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Genetics And Genomics Of Eye Disease

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Genetics and Genomics of Eye Disease

Genetics and Genomics of Eye Disease Book
Author : Xiaoyi Raymond Gao
Publisher : Academic Press
Release : 2019-09-12
ISBN : 0128167270
Language : En, Es, Fr & De

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Book Description :

Genetics and Genomics of Eye Disease: Advancing to Precision Medicine thoroughly examines the latest genomics methods for studying eye disease, including complex eye disorders associated with multiple genes. GWAS, WES, WGS, RNA-sequencing, and transcriptome analysis as employed in ocular genomics are discussed in-depth, as are genomics findings tied to early-onset glaucoma, strabismus, age-related macular degeneration, adult-onset glaucoma, diabetic retinopathy, keratoconus, and leber congenital amaurosis, among other diseases. Research and clinical specialists offer guidance on conducting preventative screenings and counseling patients, as well as the promise of machine learning, computational statistics and artificial intelligence in advancing ocular genomics research. Offers thorough guidance on conducting genetic and genomic studies of eye disease Examines the genetic basis of a wide range of complex eye diseases and single-gene and Mendelian disorders Discusses the application of genetic testing and genetic risk prediction in eye disease diagnosis and patient counseling

Practical Genomics for Clinical Ophthalmology

Practical Genomics for Clinical Ophthalmology Book
Author : Jane Ashworth,Graeme C.M. Black,Bart P. Leroy
Publisher : Academic Press
Release : 2019-08-15
ISBN : 9780128139448
Language : En, Es, Fr & De

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Book Description :

Practical Genomics for Clinical Ophthalmology provides in-depth coverage of the clinical applications of genomics in eye disease, with a key emphasis on case-study based instruction in patient care and genetic counseling aspects, genetic and genomic diagnostics, and treatment pathways. The book presents the latest information on genetic and genomic test results, best practices for delivery of results to patients and families, and ongoing research into therapeutics, with specific chapters covering non-syndromic inherited retinal disease, syndromic IRD, vitreoretinopathies, lens abnormalities, corneal disease, albinism, anterior segment dysgenesis, glaucoma, developmental eye abnormalities, nystagmus, ocular motility disorders, optic neuropathies, phacomatoses, and retinoblastoma, and more. In addition, clinical case studies illustrate examples of common genetic eye disorders and highlight vital learning points for the reader. Presents the work of leading international researchers and clinicians who speak in-depth on the clinical applications of genomics in diagnosis and treatment of eye disease Provides full-color, richly illustrated chapters that cover current genetic and genomic testing methods employed in ophthalmology Includes instructions on the diagnosis and treatment of a wide range of conditions, including non-syndromic inherited retinal disease, syndromic IRD, vitreoretinopathies, lens abnormalities, corneal disease, albinism, anterior segment dysgenesis, glaucoma, and more Contains case studies that illustrate common genetic eye disorders and highlight vital learning points for the reader

Molecular Genetics of Inherited Eye Disorders

Molecular Genetics of Inherited Eye Disorders Book
Author : Alan F. Wright
Publisher : CRC Press
Release : 1994-12-01
ISBN : 9783718654932
Language : En, Es, Fr & De

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Book Description :

Molecular Genetics of Inherited Eye Disorders provides an authoritative and up-to-date account of molecular genetic advances in a wide spectrum of genetic eye disorders, and forms the second volume in the Modern Genetics book series. The field has produced some dramatic and often unexpected findings in recent years ranging from the elegant unravelling of the molecular basis of colour vision defects to the subtle complexity of the retinoblastoma gene. The role of crystallins in congenital cataract and of the rhodopsin molecule in retinitis pigmentosa are discussed, illustrating the importance of the candidate gene approach to genetic eye disease. Reverse genetic approaches to the cloning of genes responsible for aniridia and choroideremia exemplify the power of the new genetic techniques and signal the start of the next experimental phase, in which the functional characterization of identified genes begins.

Advances in Vision Research Volume III

Advances in Vision Research  Volume III Book
Author : Gyan Prakash,Takeshi Iwata
Publisher : Springer Nature
Release : 2021-03-22
ISBN : 9811591849
Language : En, Es, Fr & De

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Book Description :

This third volume, with three supporting editors, broadens its focus on genetic eye research from the Asian to the global scale. New efforts and a new awareness have sparked important discussions on genetic eye research, and new plans are being implemented to identify the genes responsible for numerous eye diseases. The book introduces the latest findings on genetics in eye diseases, gene therapy, and genome-wide association analysis, and the efforts of the Global Eye Genetic Consortium (GEGC). The book’s editors have been instrumental in developing strategies for discovering the new genes involved in many eye diseases. All chapters were written by leading researchers working on eye genetics from the fields of Human Genetics, Ophthalmology, Molecular Biology, Biochemistry, Sensory Sciences, and Clinical Research. Advances in Vision Research, Volume III is a major resource for all researchers, clinicians, clinical researchers, and allied eye health professionals with an interest in eye diseases around the globe.

Molecular Genetics of Ocular Disease

Molecular Genetics of Ocular Disease Book
Author : Janey L. Wiggs
Publisher : Wiley-Liss
Release : 1995
ISBN : 0987650XXX
Language : En, Es, Fr & De

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Book Description :

Provides an overview of the molecular genetics of ocular disease. An introductory chapter covers the important first principles as well as the more recent techniques of molecular genetics. Other chapters discuss the molecular biology and molecular genetics of selected eye disorders. Contains pertinent information for the diagnosis, treatment and comprehension of the pathophysiology resulting in these disorders.

Advances in Vision Research Volume I

Advances in Vision Research  Volume I Book
Author : Gyan Prakash,Takeshi Iwata
Publisher : Springer
Release : 2017-04-24
ISBN : 4431565116
Language : En, Es, Fr & De

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Book Description :

This book presents the state of the art in genetic eye research in Asia and the Pacific. Though there has been an explosion of information on genetic eye research in western countries, more than sixty percent of the human genes involved in eye diseases in the Asian and Pacific population remain unknown. However, new efforts and a new awareness have sparked important discussions on the subject, and new plans are being implemented to discover the genes responsible for many eye diseases in the population. The book reviews the latest findings; its content ranges from genetic aspects of human migration to DNA sequence analysis, genome-wide association analysis, and disease phenotypes. The efforts of the Asian Eye Genetic Consortium (AEGC) are also discussed. The book’s editors have been instrumental in developing strategies for discovering the new Asian genes involved in many eye diseases. All chapters were written by leading researchers working on Asian eye genetics from the fields of Human Genetics, Ophthalmology, Molecular Biology, Biochemistry, Sensory Sciences, and Clinical Research. Advances in Vision Research, Volume I will prove to be a major resource for all researchers, clinicians, clinical researchers, and allied eye health professionals with an interest in eye diseases among the Asian population.

Advances in Vision Research Volume II

Advances in Vision Research  Volume II Book
Author : Gyan Prakash,Takeshi Iwata
Publisher : Springer
Release : 2018-11-03
ISBN : 9811308845
Language : En, Es, Fr & De

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Book Description :

This second volume continues with a focus on the state of the art in genetic eye research in Asia and the Pacific. Though there has been an explosion of information on genetic eye research in western countries, more than sixty percent of the human genes involved in eye diseases in the Asian and Pacific population remain unknown. However, new efforts and a new awareness have sparked important discussions on the subject, and new plans are being implemented to discover the genes responsible for many eye diseases in the population. The book reviews the latest findings; its content ranges from genetic aspects of human migration to DNA sequence analysis, genome-wide association analysis, and disease phenotypes. The efforts of the Asian Eye Genetic Consortium (AEGC) are also discussed. The book’s editors have been instrumental in developing strategies for discovering the new Asian genes involved in many eye diseases. All chapters were written by leading researchers working on Asian eye genetics from the fields of Human Genetics, Ophthalmology, Molecular Biology, Biochemistry, Sensory Sciences, and Clinical Research. Advances in Vision Research, Volume II will prove to be a major resource for all researchers, clinicians, clinical researchers, and allied eye health professionals with an interest in eye diseases among the Asian population.

What constitutes a healthy eye Investigations of genetic and environmental influences in eye disease

What constitutes a healthy eye  Investigations of genetic and environmental influences in eye disease Book
Author : Seyhan Yazar
Publisher : Unknown
Release : 2015
ISBN : 0987650XXX
Language : En, Es, Fr & De

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Book Description :

With its unique tissue composition and easy-to-measure physiological characteristics (ocular biometry), the eye serves as a window for discovering the genetic and environmental factors that determine its structure and status in health and disease. Revolutionary findings through multiple omic technologies have already allowed us to collect vast amounts of ocular data at an individual level (Chapter 2). A major bottleneck of biological discovery using this immense volume of data is emerging at the computational level. Cloud computing is confirmed to be an efficient and cost-effective alternative for analysis of large genomic datasets in small and medium-sized research laboratories with limited computational capacity (Chapter 3). This finding is promising especially given that data collection and analysis are the basis for individualised ophthalmic care, which requires tailoring of treatment and preventative measures according to individual genomic characteristics and environmental influences. The work required for individualising ophthalmic care has many steps and can be described in layers similar to a geographic information system. The bottom layer of this model consists of identifying genetic factors that cultivate ocular disease. Next layers contain various studies that build a bridge between a genotype and a phenotype. One of these layers is determining environmental exposures from conception onwards. The objective of the present thesis is to determine the genetic and environmental risk factors relating to eye disease. One method to achieve this goal is pooling data from large population-based cohorts longitudinally and data mining through various techniques. With this in mind, the 20- year follow-up the Western Australian Pregnancy Cohort (Raine) Eye Health Study was conceived to collect multi-scale data to characterize ocular biometric parameters and determine the baseline prevalence and risk factors of common eye diseases in a young adult population born in Western Australia. Dissecting components of complex ocular diseases relies on phenotypic variation that necessitates accurate phenotyping in assembly of such large volume of data. Therefore, standardized methodology and practical guidelines were described at the beginning of this work to utilize in current and future eye research (Chapter 4). In the 20-year-old individuals, the prevalence of most eye diseases was low, except myopia. This was in line with the increased prevalence of myopia worldwide, highest in East-Asian countries. Although simple myopia itself is a non-sight threatening condition and can be corrected with spectacles, contact lenses and refractive surgery, high myopia is commonly associated with debilitating eye diseases such as glaucoma, maculopathies and retinal detachment. Hence, any preventative measure or treatment modality will have benefits not only at individual level but also for the ocular health care system. Myopia is due to imbalance of ocular biometry, mainly axial length and corneal curvature. However, higher levels of monochromatic aberrations were found to be associated with increased severity of myopia in young adults. This suggests that while some biometry has a major role in myopia occurrence, other parameters have a small and substantial effect (Chapter 5). Disproportionate ocular biometry in myopia is a consequence of interactions between the genes and the environmental risk factors an individual is exposed to at various stages of life including the perinatal period and early childhood. We confirmed that paediatric has no effect on levels of myopia in young adulthood (Chapter 6). Time spent outdoors during childhood is suggested to be protective against myopia development, although the exact mechanism of this effect remains unknown. One of the challenges of studies investigating these mechanisms is that ocular sun exposure cannot be measured directly and quantitatively. Therefore biomarkers representing this measurement need to be identified and utilised instead. Conjunctival UV autofluoresence (CUVAF) can be an ideal biomarker for this purpose. However, the following characteristics must be considered when used: [1] prevalence of CUVAF increases with increasing latitude (toward equator); [2] although it is largely environmental, genes also play a significant role in its development. Notably a single polymorphism (SNP) in solute carrier family 1, member 2 (SLC1A5) gene is associated with CUVAF, suggesting that some individuals have higher risk than the others because of their genetic composition (Chapter 7). Vitamin D pathways were hypothesised to be involved in myopia development. Myopic individuals were found to have lower levels of serum vitamin D. Although this association could be evidence for an underlying mechanism, it could be simply a biomarker of whole-body sun exposure (Chapter 8). Although the relationship of corneal curvature and axial length is the main driver of the refractive status and myopia development in childhood, uncorrected corneal astigmatism may inhibit emmetropisation and cause myopia during ocular growth. Hence dissecting the genetics of corneal curvature and corneal astigmatism, which are highly heritable, may help us to understand uncoordinated growth of refractive components in myopia. A limited number of genetic studies of corneal astigmatism and corneal curvature have been performed. The only published genome-wide association study (GWAS) for corneal astigmatism was from a Singaporean Asian population. We were unable to replicate the reported association of corneal astigmatism and the platelet-derived growth factor receptor alpha (PDGFRA) locus in Australians of Northern European ancestry. The same variant has also been implicated in corneal curvature in the same Singaporean population. We searched for the same variant in our cohorts and were able to replicate previous findings (Chapter 9). In this research, a number of important associations with myopia are identified utilising mainly a cohort of healthy young adults. Although translation of these findings requires extensive efforts and completion of multiple stages, the milestones achieved in other complex diseases give us the hope that similar advancements are feasible for myopia. However, now, the next phase of studies should focus on replication studies in other cohorts to validate these findings.

Genetics of Eye Diseases

Genetics of Eye Diseases Book
Author : Chitra Kannabiran
Publisher : Springer
Release : 2019-07-22
ISBN : 9811371466
Language : En, Es, Fr & De

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Book Description :

This book provides comprehensive information on the genetics of eye diseases affecting various parts of the eye, and addresses a range of genetic etiologies. These diseases include several hereditary disorders of anterior and posterior segment, and with different genetic etiologies. The genetics of eye diseases is a field that has been rapidly growing over the last two decades, and comprises a vast area with considerable clinical and genetic heterogeneity. The main goal of this work is to discuss the status quo of genetics for each of the disorders covered, and to highlight unusual or atypical patterns of inheritance and genetic associations. For each relevant gene, it describes the pathogenic associations and variants, genotype-phenotype correlations, and functions at the cellular and molecular level. Genetics of Eye Diseases offers a valuable reference guide for geneticists and clinicians alike, while also providing a comprehensive overview of the field for graduate and doctoral-level students. In addition to sharing essential information on the genetics of each disease, it highlights recent advances that are representative of the developments in the field as a whole.

Integrating Human Population Genetics and Genomics to Elucidate the Etiology of Brain Disorders

Integrating Human Population Genetics and Genomics to Elucidate the Etiology of Brain Disorders Book
Author : Arvis Sulovari
Publisher : Unknown
Release : 2017
ISBN : 0987650XXX
Language : En, Es, Fr & De

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Book Description :

Brain disorders present a significant burden on affected individuals, their families and society at large. Existing diagnostic tests suffer from a lack of genetic biomarkers, particularly for substance use disorders, such as alcohol dependence (AD). Numerous studies have demonstrated that AD has a genetic heritability of 40-60%. The existing genetics literature of AD has primarily focused on linkage analyses in small family cohorts and more recently on genome-wide association analyses (GWAS) in large case-control cohorts, fueled by rapid advances in next generation sequencing (NGS). Numerous AD-associated genomic variations are present at a common frequency in the general population, making these variants of public health significance. However, known AD-associated variants explain only a fraction of the expected heritability. In this dissertation, we demonstrate that systems biology applications that integrate evolutionary genomics, rare variants and structural variation can dissect the genetic architecture of AD and elucidate its heritability. We identified several complex human diseases, including AD and other brain disorders, as potential targets of natural selection forces in diverse world populations. Further evidence of natural selection forces affecting AD was revealed when we identified an association between eye color, a trait under strong selection, and AD. These findings provide strong support for conducting GWAS on brain disorder phenotypes. However, with the ever-increasing abundance of rare genomic variants and large cohorts of multi-ethnic samples, population stratification becomes a serious confounding factor for GWAS. To address this problem, we designed a novel approach to identify ancestry informative single nucleotide polymorphisms (SNPs) for population stratification adjustment in association analyses. Furthermore, to leverage untyped variants from genotyping arrays -- particularly rare variants -- for GWAS and meta-analysis through rapid imputation, we designed a tool that converts genotype definitions across various array platforms. To further elucidate the genetic heritability of brain disorders, we designed approaches aimed at identifying Copy Number Variations (CNVs) and viral insertions into the human genome. We conducted the first CNV-based whole genome meta-analysis for AD. We also designed an integrated approach to estimate the sensitivity of NGS-based methods of viral insertion detection. For the first time in the literature, we identified herpesvirus in NGS data from an Alzheimer's disease brain sample. The work in this dissertation represents a three-faceted advance in our understanding of brain disease etiology: 1) evolutionary genomic insights, 2) novel resources and tools to leverage rare variants, and 3) the discovery of disease-associated structural genomic aberrations. Our findings have broad implications on the genetics of complex human disease and hold promise for delivering clinically useful knowledge and resources.

Genomic Medicine

Genomic Medicine Book
Author : Dhavendra Kumar,Charis Eng
Publisher : Oxford University Press
Release : 2014-09-26
ISBN : 0199398089
Language : En, Es, Fr & De

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Book Description :

The first edition of Genomics and Clinical Medicine provided an overview of genomics-based advances in disease susceptibility, diagnosis, and prediction of treatment outcomes in various areas of medicine. Since its publication, the science of genomics has made tremendous progress, and exciting new developments in biotechnology and bioinformatics have created possibilities that were inconceivable only a few years ago. This completely revised second edition of Genomic Medicine reflects the rapidly changing face of applied and translational genomics in the medical and health context and provides a comprehensive coverage of principles of genetics and genomics relevant to the practice of medicine.

Equine Genetic Diseases An Issue of Veterinary Clinics of North America Equine Practice E Book

Equine Genetic Diseases  An Issue of Veterinary Clinics of North America  Equine Practice  E Book Book
Author : Carrie Finno
Publisher : Elsevier Health Sciences
Release : 2020-07-27
ISBN : 0323708609
Language : En, Es, Fr & De

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Book Description :

This issue of Veterinary Clinics: Equine Practice, guest edited by Dr. Carrie Finno, focuses on Equine Genetic Diseases. Topics include: Genetics, Genomics, and Emergent Precision Medicine 12 years post Equine Reference Genome; Equine SNP Genotyping Arrays; Next-generation Sequencing; Genetic Testing in the Horse; Genetics of Cardiovascular Disease; Genetics of Respiratory Disease; Genetics of Neurological Disease; Genetics of Immune Disease; Genetics of Orthopedic Disease; Genetics of Ocular Disease; Genetics of Skin Disease; Genetics of Endocrine and Metabolic Disease; Genetics of Muscle Disease; Genetics of Laminitis; Genetics of Reproductive Diseases; and Genetics of Behavioral Traits.

Molecular Biology of the Eye

Molecular Biology of the Eye Book
Author : Joram Piatigorsky,Toshimichi Shinohara,Peggy S. Zelenka
Publisher : Unknown
Release : 1988
ISBN : 0987650XXX
Language : En, Es, Fr & De

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Book Description :

Download Molecular Biology of the Eye book written by Joram Piatigorsky,Toshimichi Shinohara,Peggy S. Zelenka, available in PDF, EPUB, and Kindle, or read full book online anywhere and anytime. Compatible with any devices.

The Human Genome

The Human Genome Book
Author : Julia E. Richards,R. Scott Hawley
Publisher : Academic Press
Release : 2010-12-12
ISBN : 9780080918655
Language : En, Es, Fr & De

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Book Description :

Significant advances in our knowledge of genetics were made during the twentieth century but in the most recent decades, genetic research has dramatically increased its impact throughout society. Genetic issues are now playing a large role in health and public policy, and new knowledge in this field will continue to have significant implications for individuals and society. Written for the non-majors human genetics course, Human Genetics, 3E will increase the genetics knowledge of students who are learning about human genetics for the first time. This thorough revision of the best-selling Human Genome,2E includes entirely new chapters on forensics, stem cell biology, bioinformatics, and societal/ethical issues associated with the field. New special features boxes make connections between human genetics and human health and disease. Carefully crafted pedagogy includes chapter-opening case studies that set the stage for each chapter; concept statements interspersed throughout the chapter that keep first-time students focused on key concepts; and end-of-chapter questions and critical thinking activities. This new edition will contribute to creating a genetically literate student population that understands basic biological research, understands elements of the personal and health implications of genetics, and participates effectively in public policy issues involving genetic information . Includes topical material on forensics, disease studies, and the human genome project to engage non-specialist students Full, 4-color illustration program enhances and reinforces key concepts and themes Uniform organization of chapters includes interest boxes that focus on human health and disease, chapter-opening case studies, and concept statements to engage non-specialist readers

Encyclopedia of Human Genetics and Disease 2 volumes

Encyclopedia of Human Genetics and Disease  2 volumes  Book
Author : Evelyn B. Kelly Ph.D.
Publisher : ABC-CLIO
Release : 2013-01-07
ISBN : 0313387141
Language : En, Es, Fr & De

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Book Description :

This two-volume encyclopedia examines the history, characteristics, causes, and treatment of genetic disease, as well as the science of genetics itself. • Illustrations and photographs • An informative timeline of genetic study advancements • An annotated list of websites and helpful books

Genetics and Genomics in Nursing and Health Care

Genetics and Genomics in Nursing and Health Care Book
Author : Theresa A Beery,M Linda Workman,Julia A Eggert
Publisher : F.A. Davis
Release : 2018-01-08
ISBN : 0803660960
Language : En, Es, Fr & De

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Book Description :

Complex concepts made manageable! Build the foundation you need to understand the science of genetics and its growing role in the diagnosis and treatment of diseases and disorders. Confidently tackle the basics of genetic inheritance, the influence of somatic and germline mutations, the multifactorial relationship of gene-environment interactions, and the foundation of ethical behavior. Everyday language makes these often-intimidating topics easy to understand, while clearly defined principles, logical explanations, illustrations, tables, and clinical examples ensure you master the material.

Atlas of Inherited Retinal Diseases

Atlas of Inherited Retinal Diseases Book
Author : Stephen H. Tsang,Tarun Sharma
Publisher : Springer
Release : 2018-12-21
ISBN : 3319950460
Language : En, Es, Fr & De

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Book Description :

This Atlas of Inherited Retinal Disorders provides a thorough overview of various inherited retinal dystrophies with emphasis on phenotype characteristics and how they relate to the most frequently encountered genes. It also meets the previously unmet needs of PhD students who will benefit from seeing the phenotypes of genes they work on and study. Further, because genetic-testing costs are quite high and spiraling higher, this Atlas will help geneticists familiarize themselves with the candidate gene approach to test patients’ genomes, enabling more cost-efficient testing. This invaluable atlas is organized into eight sections starting with an introduction to the basic knowledge on retinal imaging, followed by diseases listed according to inheritance pattern and disorders with extraocular manifestations grouped by defining features. This structure will be intuitive to clinicians and students studying inherited retinal disorders.

Genetics

Genetics Book
Author : Leland Hartwell
Publisher : McGraw-Hill Companies
Release : 2000
ISBN : 0987650XXX
Language : En, Es, Fr & De

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Book Description :

"Genetics: From Genes to Genomes" is a cutting-edge, introductory genetics text authored by an unparalleled author team, including Nobel Prize winner, Leland Hartwell. The Third Edition continues to build upon the integration of Mendelian and molecular principles, providing students with the links between early genetics understanding and the new molecular discoveries that have changed the way the field of genetics is viewed.

Clinical and Molecular Analysis of Inherited Corneal and Anterior Segment Ocular Disease

Clinical and Molecular Analysis of Inherited Corneal and Anterior Segment Ocular Disease Book
Author : Andrea Louise Vincent
Publisher : Unknown
Release : 2013
ISBN : 0987650XXX
Language : En, Es, Fr & De

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Book Description :

An astounding recent increase in the knowledge of the genetic basis for disease is aided by newer techniques and technologies with which to characterise DNA and genes, in particular the Human Genome project. Combined with robust bioinformatic resources, the availability of this vast amount of genomic information in the public domain has facilitated worldwide investigation into genetic disease. Within the field of ophthalmology, sophisticated examination and imaging devices have also enabled in-depth clinical characterisation of disease entities allowing distinction of subtle differences between similar phenotypes, frequently rendering the existing classification and nomenclature systems inadequate. The challenge to the Ophthalmologist is how to make this vast amount of information relevant to clinical practice, to be used in the clinical setting to facilitate management and treatment, and to ultimately reduce visual impairment. This MD thesis will cover the basic principles of ocular embryology, and anatomy of the cornea and anterior segment. The importance of comprehensive clinical disease characterisation, phenotyping, will be demonstrated. Tools for molecular analysis including Polymerase chain reaction (PCR), pedigree construction, and gene identification will also be covered in the search to identify causative genes in ocular disease. This includes a candidate gene approach, and linkage analysis. The ocular disorders covered involve the structures of the anterior segment of the eye, specifically the cornea, and the angle of the eye, involved in glaucoma, and other structures in the anterior segment including the iris, and the lens. Work undertaken during my fellowship at the Hospital for Sick Children involved Identification of a novel genotype correlation in Peters anomaly lead the way to further characterisation in a larger glaucoma population, with a digenic inheritance observed. Extrapolation of this same screening method in a New Zealand population also suggests a multiallelic inheritance for glaucoma. Within the group of corneal dystrophies, much phenotypic and genotypic variation occurs. Molecular characterisation of a New Zealand cohort of families and individuals has defined the spectrum of TGFBI changes, identified novel genotype-phenotype variations in this gene, and identified individuals with similar dystrophies without TGFBI mutation. This has lead to further novel genotypephenotype discoveries such as the atypical lattice dystrophy associated with amyloidoisis, and a family with an anterior membrane/fleck dystrophy that has a likely novel genetic mechanism. The genetics involved in Posterior polymorphous dystrophy with an overlap into keratoconus are also explored in relation to the ZEB1 and VSX1 genes. This thesis provides insights over a decade into the advancing knowledge of the genetics involved in the glaucomas and inherited corneal dystrophies.