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Introduction To Ophthalmic Genetics PowerPoint Presentation

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Description : Check out this medical PowerPoint presentation titled "Introduction to Ophthalmic Genetics” by Khaled K. Abu-Amero, Ph.D., FRCPath.

This medical PowerPoint presentation is about ophthalmic genetics, the branch of genetics that deals with the study of the genetic basis of eye diseases and disorders. It focuses on the genetic factors that contribute to the development of various ocular conditions, such as cataracts, glaucoma, retinal degeneration, and refractive errors.

This field of study is important for understanding the causes and mechanisms of inherited eye diseases, as well as for the development of new treatments and preventive measures. Ophthalmic genetics also plays a crucial role in genetic counseling, which involves assessing the risks of passing on genetic disorders to offspring and providing advice on family planning.

Advances in ophthalmic genetics have led to the identification of numerous genes that are involved in the development of various eye diseases. This has enabled researchers to better understand the underlying molecular mechanisms of these conditions and has opened up new avenues for the development of targeted therapies and personalized medicine.

Tags : Ophthalmic Genetics, genetic basis of eye diseases and disorders, cataracts, glaucoma, retinal degeneration, refractive errors, Ophthalmology, Ophthalmology PowerPoint presentation

Published on : Jun 20, 2023 | Views : 670 | Downloads : 0

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Slide 1-

Introduction to Ophthalmic Genetics Khaled K. Abu-Amero, Ph.D., FRCPath Professor, Department of Ophthalmology, College of Medicine, King Saud University, Riyadh , SA Associate Professor, Department of Ophthalmology, College of Medicine, Jacksonville, FL, USA
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Why Ophthalmologists need to know about Genetics Almost 50% of paediatric blindness is due to a genetic aetiology. The eye is second only to the brain as an individual organ in its frequency of involvement in genetic disorders. The ophthalmologist plays important roles not only in clinical diagnosis and management but may also be asked by patients and their families to provide genetic counselling and referrals to appropriate subspecialty services. An understanding of clinical genetic concepts and accurate diagnosis are prerequisites for effective genetic counselling. Examination of other family members might be required.
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How to Recognize a Disease with a Genetic Basis? Family History Previous studies had linked the disease to a gene(s) Chromosomal abnormalities are largely sporadic –No family History Trauma with no family history – may be NO GENETICS BASIS Gene-Environment Interaction
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Inheritance patterns Mendelian disorders are caused by mutations in single genes and follow the principles of inheritance initially described by Gregor Mendel in 1866. 5 types of mode of inheritance follow Mednel One type (mitochondrial inheritance does not follow Mendel).
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Autosomal Dominant An affected person usually has at least one affected parent Affects either sex A child of affected X unaffected mating has 50% chance of being affected Retinoblastoma, Retinitis pigmentosa
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Autosomal Recessive Males & females affected in equal proportions Individuals affected in single sibship in one generation (horizontal transmission) Consanguinity provides further support of AR inheritance Cystic fibrosis Sickle cell disease Thalassaemia Haemochromatosis
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X-Linked Recessive Males affected almost exclusively Transmitted through carrier females to sons (knight’s move pattern) Affected males cannot transmit disorder to sons Duchenne & Becker muscular dystrophy Haemophilia Fragile X Syndrome
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X-linked dominant Affect either sex The child of an affected female has a 50% chance of being affected For an affected male, all his daughters will be affected and none of his sons will be affected. Rett syndrome, incontinentia pigmenti
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Y-linked Inheritance Because males inherit a Y chromosome from their fathers, every son of an affected father will be affected. Because females inherit an X chromosome from their fathers, female offspring of affected fathers are never affected.
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Mitochondrial Inheritance Transmit only from the mother Males and Females of an affected mother have equal chances of getting the disease (each 50%). Mitochondrial diseases are usually multi- systemic. LHON, MELAS, Chronic Progressive External Ophthalmoplegia (CPEO)
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Sequence Changes and Diseases Sequence Change AA Change No AA change Mutation Causative Disease Non-Causative Risk Factor + Environmental factors Polymorphism
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Retinitis Pigmentosa (RP)
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Primary Angle Closure Glaucoma (PACG)
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Primary Open Angle Glaucoma (POAG)
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Keratoconus
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Primary Congenital Glaucoma (PCG)
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Optic Neuritis
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Retinoblastoma
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Ocular Motility Congenital Fibrosis of Extarocular Muscles (CFEM) Congenital Cranial Dysinnervation Disorders(CFEM) Duane Retraction Syndrome Neurological Involvement
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Genetics of DRS
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Thank You