Chapters 1 & 2: Amd And Genetics

By Staci Johnson
Staci Johnson, Pharma & Biotechnology
Staci is a Pharmaceutical and Biotech Training Consultant with a successful track record in developing and implementing innovative sales training programs. She excels in creating compelling, effective, and engaging curriculums and has a collaborative, positive, and customer-focused approach.
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Genetics Quizzes & Trivia

This quiz has been designed to test your knowledge of age-related macular degeneration and genetics. You have 1 hour to complete the quiz. A passing grade is a 90% or above.


Questions and Answers
  • 1. 

    Which layer of retina falls between Bruch's membrane and photoreceptors?

    • A.

      Choroid

    • B.

      Retinal pigment epithelium

    • C.

      Macula

    • D.

      Fovea

    Correct Answer
    B. Retinal pigment epithelium
    Explanation
    The layer of retina that falls between Bruch's membrane and photoreceptors is the retinal pigment epithelium. The retinal pigment epithelium is a layer of cells that provides nourishment to the photoreceptor cells and helps maintain their function. It also plays a role in absorbing excess light and protecting the retina from damage. This layer is essential for the proper functioning of the retina and the preservation of vision.

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  • 2. 

    Which of the following stimulates the release of VEGF?

    • A.

      Decreased blood supply

    • B.

      Increased oxygen levels

    • C.

      Decreased hormone levels

    • D.

      Aging

    Correct Answer
    A. Decreased blood supply
    Explanation
    Decreased blood supply stimulates the release of VEGF. VEGF, or vascular endothelial growth factor, is a protein that promotes the growth of new blood vessels. When there is a decrease in blood supply to a tissue or organ, it signals the body to release VEGF in order to stimulate the formation of new blood vessels and improve blood flow to the affected area. This mechanism helps to restore adequate oxygen and nutrient supply to the tissue, promoting healing and tissue repair.

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  • 3. 

    Drusen causes damage in which layer of the retina?

    • A.

      Choroid

    • B.

      Bruch's membrane

    • C.

      Photoreceptors

    • D.

      Retinal pigment epithelium

    Correct Answer
    D. Retinal pigment epithelium
    Explanation
    Drusen causes damage in the retinal pigment epithelium. Drusen are small yellow deposits that accumulate between the retinal pigment epithelium and Bruch's membrane in the retina. These deposits can disrupt the normal function of the retinal pigment epithelium, which is responsible for supporting and nourishing the photoreceptor cells in the retina. Damage to the retinal pigment epithelium can lead to vision problems and potentially contribute to the development of age-related macular degeneration.

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  • 4. 

    Forms of advanced AMD include all of the following except

    • A.

      CNV

    • B.

      GA

    • C.

      Wet AMD

    • D.

      RPE

    Correct Answer
    D. RPE
    Explanation
    The given question is asking for the form of advanced AMD that is not included in the options. The options provided are CNV (Choroidal neovascularization), GA (Geographic atrophy), Wet AMD, and RPE (Retinal pigment epithelium). Among these options, RPE is not a form of advanced AMD. RPE refers to the retinal pigment epithelium, which is a layer of cells in the retina that supports the function of the photoreceptor cells. While RPE dysfunction can contribute to the development of AMD, it is not considered a specific form of advanced AMD.

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  • 5. 

    Which of the following is scored in the AREDS Simplified Severity Scale?

    • A.

      Visual acuity

    • B.

      Large drusen

    • C.

      Smoking status

    • D.

      Abnormal complement

    Correct Answer
    B. Large drusen
    Explanation
    Large drusen is scored in the AREDS Simplified Severity Scale. Drusen are yellow deposits that accumulate under the retina, and large drusen are a key characteristic of age-related macular degeneration (AMD). The AREDS Simplified Severity Scale is a tool used to assess the severity of AMD, and large drusen are one of the criteria used to determine the stage of the disease. Therefore, large drusen is a valid answer in the context of the AREDS Simplified Severity Scale.

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  • 6. 

    Which of the following can slow the progression of wet AMD and possibly improve vision?

    • A.

      Anti-VEGF treatments

    • B.

      Steroid injections

    • C.

      Antibiotic drops

    • D.

      Plenty of rest and avoiding bright lights

    Correct Answer
    A. Anti-VEGF treatments
    Explanation
    Anti-VEGF treatments can slow the progression of wet AMD and possibly improve vision. Wet AMD is characterized by the growth of abnormal blood vessels in the retina, which can lead to vision loss. Anti-VEGF treatments work by blocking the action of vascular endothelial growth factor (VEGF), a protein that promotes the growth of these abnormal blood vessels. By inhibiting the growth of new blood vessels, anti-VEGF treatments can help prevent further damage to the retina and potentially improve vision in patients with wet AMD.

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  • 7. 

    Which of the following is NOT considered primary prevention for AMD?

    • A.

      Eating a diet rich in zinc, omega-3 fatty acids, beta-carotene, and lutein/zeaxanthin

    • B.

      Smoking cessation

    • C.

      Including 1 or more servings of fish in your diet each week

    • D.

      Hyperacuity testing

    Correct Answer
    D. Hyperacuity testing
    Explanation
    Hyperacuity testing is not considered primary prevention for AMD because it is a diagnostic tool used to detect and monitor the progression of the disease, rather than a preventive measure. Primary prevention refers to actions taken to prevent a disease from occurring in the first place, such as adopting a healthy diet, quitting smoking, and including fish in one's diet to provide essential nutrients for eye health.

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  • 8. 

    What is the genetic contribution to advanced AMD?

    • A.

      Up to 54%

    • B.

      Up to 62%

    • C.

      Up to 71%

    • D.

      Up to 89%

    Correct Answer
    C. Up to 71%
    Explanation
    The genetic contribution to advanced AMD is up to 71%. This means that genetics play a significant role in the development of advanced age-related macular degeneration. It suggests that a person's genetic makeup can contribute to their susceptibility to this condition. However, it is important to note that other factors such as environmental and lifestyle factors also play a role in the development of AMD.

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  • 9. 

    What is the hallmark sign of dry AMD?

    • A.

      Pigment changes

    • B.

      Drusen

    • C.

      Chronic inflammation

    • D.

      Choroidal neovascularization

    Correct Answer
    B. Drusen
    Explanation
    Drusen is the hallmark sign of dry AMD. Drusen are small yellow deposits that accumulate under the retina and are made up of waste materials from the retina. They are typically found in the macula, the central part of the retina responsible for central vision. The presence of drusen is a key characteristic of dry AMD, which is the most common form of age-related macular degeneration. Dry AMD is characterized by the gradual breakdown of light-sensitive cells in the macula, leading to a progressive loss of central vision.

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  • 10. 

    What is the process of growing new, abnormal, leaky blood vessels?

    • A.

      Metamorphopsia

    • B.

      Hyperacuity

    • C.

      Angiogenesis

    • D.

      Oxidation

    Correct Answer
    C. Angiogenesis
    Explanation
    Angiogenesis is the process of growing new, abnormal, and leaky blood vessels. This process occurs in various diseases, such as cancer, where tumors need a blood supply to grow and spread. Angiogenesis involves the formation of new blood vessels from existing ones, allowing for the delivery of oxygen and nutrients to the growing tissue. The abnormal and leaky nature of these blood vessels can contribute to the spread of disease and complications.

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  • 11. 

    How many Americans are currently estimated to be affected by AMD?

    • A.

      3 million

    • B.

      5 million

    • C.

      10 million

    • D.

      20 million

    Correct Answer
    C. 10 million
    Explanation
    Approximately 10 million Americans are currently estimated to be affected by AMD. Age-related macular degeneration (AMD) is a common eye condition that affects the macula, the part of the retina responsible for central vision. This condition causes a gradual loss of central vision, making it difficult to read, drive, or recognize faces. The estimated number of affected individuals indicates the significant impact of AMD on the population and highlights the need for awareness, prevention, and treatment options for this eye disease.

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  • 12. 

    True or false:  GA and CNV may occur separately or in the same patient.

    • A.

      True

    • B.

      False

    Correct Answer
    A. True
    Explanation
    GA (geographic atrophy) and CNV (choroidal neovascularization) are both conditions related to age-related macular degeneration (AMD). GA is characterized by the gradual loss of retinal pigment epithelial cells, leading to the death of photoreceptor cells and vision loss. CNV, on the other hand, involves the growth of abnormal blood vessels beneath the retina, which can leak blood and fluid, causing vision impairment. It is possible for a patient to have either GA or CNV alone, or to have both conditions simultaneously. Therefore, the statement that GA and CNV may occur separately or in the same patient is true.

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  • 13. 

    Which of the following is NOT true about AREDS?

    • A.

      AREDS was sponsored by the National Eye Institute.

    • B.

      AREDs was a long-term clinical trial designed to study AMD and glaucoma.

    • C.

      AREDS began in 1992 and collected over 10 years of data.

    • D.

      AREDS evaluated the effects of high doses of antioxidants and zinc on the progression of AMD and vision loss.

    Correct Answer
    B. AREDs was a long-term clinical trial designed to study AMD and glaucoma.
  • 14. 

    Secondary prevention of AMD progression may include all of the following except

    • A.

      Drusen therapy

    • B.

      Smoking cessation

    • C.

      AREDS-formula nutritional supplements

    • D.

      Self-monitoring for subtle visual changes

    Correct Answer
    A. Drusen therapy
    Explanation
    The correct answer is drusen therapy. Drusen therapy refers to the treatment of drusen, which are yellow deposits that accumulate under the retina in age-related macular degeneration (AMD). However, secondary prevention of AMD progression typically focuses on other strategies such as smoking cessation, taking AREDS-formula nutritional supplements, and self-monitoring for subtle visual changes. These measures aim to slow down the progression of AMD and prevent further vision loss. Therefore, drusen therapy is not considered a part of secondary prevention for AMD progression.

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  • 15. 

    Which of the following acts as a biological marker and helps scientists locate genes that are associated with disease?

    • A.

      SNPs

    • B.

      VEGF

    • C.

      Abnormal compliment

    • D.

      DNA base pair

    Correct Answer
    A. SNPs
    Explanation
    SNPs, or single nucleotide polymorphisms, act as biological markers and help scientists locate genes that are associated with disease. SNPs are variations in a single nucleotide within a DNA sequence, and they can be used to identify genetic differences between individuals. By studying SNPs, scientists can identify specific genetic variations that may be linked to certain diseases or traits, providing valuable insights into the genetic basis of diseases and potential targets for treatments.

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  • 16. 

    Regions of DNA that contain instructions to make proteins are called

    • A.

      Nucleotides

    • B.

      Chromosomes

    • C.

      SNP

    • D.

      Genes

    Correct Answer
    D. Genes
    Explanation
    Genes are the regions of DNA that contain instructions to make proteins. They are the basic units of heredity and determine our traits and characteristics. Genes are made up of nucleotides, which are the building blocks of DNA. Chromosomes are structures that contain genes, and SNPs (Single Nucleotide Polymorphisms) are variations in a single nucleotide within a gene. Therefore, the correct answer is genes.

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  • 17. 

    The majority of genes implicated in AMD involve

    • A.

      Oxidative stress

    • B.

      Inflammation

    • C.

      Complement factor H

    • D.

      VEGF

    Correct Answer
    C. Complement factor H
    Explanation
    Complement factor H is the correct answer because it has been found to be involved in age-related macular degeneration (AMD). AMD is a complex disease with multiple genetic and environmental factors contributing to its development. Complement factor H is a protein that regulates the complement system, which is part of the immune system. Mutations in the gene encoding complement factor H have been associated with an increased risk of developing AMD. This suggests that dysregulation of the complement system and inflammation play a role in the pathogenesis of AMD.

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  • 18. 

    The attributable risk of AMD progression for variants in CFH and ARMS2 has been estimated to be as high as

    • A.

      55%

    • B.

      63%

    • C.

      72%

    • D.

      85%

    Correct Answer
    C. 72%
    Explanation
    The attributable risk of AMD progression for variants in CFH and ARMS2 has been estimated to be 72%. This means that 72% of the risk for AMD progression can be attributed to these specific genetic variants. In other words, individuals who have these variants are 72% more likely to develop AMD compared to those who do not have these variants. This estimate suggests a strong association between these genetic variants and the risk of AMD progression.

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  • 19. 

    True or false:  The AAO has advised against routine genetic testing for AMD, but acknowledge that genetic tests play an important role in the diagnosis, treatment, risk reduction, and prognosis of AMD.

    • A.

      True

    • B.

      False

    Correct Answer
    A. True
    Explanation
    The statement is true. The AAO (American Academy of Ophthalmology) advises against routine genetic testing for AMD (age-related macular degeneration), but they do acknowledge that genetic tests have an important role in the diagnosis, treatment, risk reduction, and prognosis of AMD. This means that while genetic testing may not be necessary for every patient with AMD, it can still provide valuable information in certain cases to guide treatment decisions and assess the risk and progression of the disease.

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  • 20. 

    Which is the best understood gene implicated in AMD?

    • A.

      ND2

    • B.

      CFH

    • C.

      UPC

    • D.

      C3

    Correct Answer
    B. CFH
    Explanation
    CFH (Complement Factor H) is the best understood gene implicated in AMD (Age-related Macular Degeneration). Numerous studies have shown that variations in the CFH gene are strongly associated with the risk of developing AMD. CFH encodes a protein that plays a crucial role in regulating the complement system, which is involved in inflammation and immune responses. Mutations in CFH can lead to an imbalance in the complement system, resulting in chronic inflammation and damage to the macula, leading to AMD. Understanding the role of CFH in AMD has provided valuable insights into the disease's pathogenesis and potential therapeutic targets.

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  • 21. 

    An error in a gene that often results in an abnormal protein is called a(n)

    • A.

      Allele

    • B.

      Genome

    • C.

      Mutation

    • D.

      Complement

    Correct Answer
    C. Mutation
    Explanation
    A mutation refers to a change or alteration in the DNA sequence of a gene. This change can lead to the production of an abnormal protein, which can have various effects on an organism's traits or functions. Therefore, a mutation is the correct answer as it accurately describes the error in a gene that often results in an abnormal protein.

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  • 22. 

    The observable expression of a particular trait is called a

    • A.

      Genotype

    • B.

      Phenotype

    • C.

      Genome

    • D.

      SNP

    Correct Answer
    B. Phenotype
    Explanation
    The observable expression of a particular trait refers to the phenotype. This term encompasses all the physical characteristics and traits that an organism exhibits as a result of its genetic makeup. The phenotype is influenced by the interaction between an organism's genotype (its genetic information) and the environment. The genotype refers to the specific genetic information carried by an organism, while the genome is the complete set of genetic material present in an organism. SNP (Single Nucleotide Polymorphism) is a variation in a single nucleotide within a DNA sequence, which can contribute to genetic differences among individuals.

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  • 23. 

    Which of the following is NOT one of the 4 bases of a DNA molecule?

    • A.

      Adenine

    • B.

      Thymine

    • C.

      Guanine

    • D.

      Phenomine

    Correct Answer
    D. Phenomine
    Explanation
    The question asks for the base that is not one of the four bases of a DNA molecule. Adenine, thymine, and guanine are indeed three of the four bases found in DNA. However, "phenomine" is not a recognized base in DNA. Therefore, phenomine is the correct answer as it is not one of the four bases of a DNA molecule.

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  • 24. 

    A complete set of DNA for a human is called its

    • A.

      Genome

    • B.

      Chromosome

    • C.

      Allele

    • D.

      Nucleotide

    Correct Answer
    A. Genome
    Explanation
    A complete set of DNA for a human is called its genome. The genome includes all the genetic material present in an individual, including all the genes and non-coding regions. It represents the entire blueprint for building and functioning of an organism. Chromosomes are structures within the genome that contain the DNA, alleles are alternative forms of a gene, and nucleotides are the building blocks of DNA. However, none of these options encompass the entirety of the genetic material in a human, making genome the correct answer.

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  • 25. 

    Which of the following statements is false?

    • A.

      Genetic material is arranged in 26 pairs of chromosomes, 1 set from each parent.

    • B.

      Genes are composed of DNA.

    • C.

      Different variations of genes are called alleles.

    • D.

      Phenotype may be affected by environmental factors.

    Correct Answer
    A. Genetic material is arranged in 26 pairs of chromosomes, 1 set from each parent.
    Explanation
    The given statement is false because genetic material is arranged in 23 pairs of chromosomes, 1 set from each parent, not 26 pairs.

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Staci Johnson |Pharma & Biotechnology |
Staci is a Pharmaceutical and Biotech Training Consultant with a successful track record in developing and implementing innovative sales training programs. She excels in creating compelling, effective, and engaging curriculums and has a collaborative, positive, and customer-focused approach.

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  • Mar 22, 2023
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    ProProfs Editorial Team
  • Jun 03, 2014
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    Staci Johnson

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