Personalized Medicine in Ophthalmology

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What is the primary function of the retina in the eye?

To filter out harmful light rays
To control visual acuity
To relay images to the brain (correct)
To detect movement

What is the key difference between dry and wet macular degeneration?

Dry macular degeneration involves the growth of new blood vessels, while wet macular degeneration does not
Wet macular degeneration is a more advanced form of the disease compared to dry macular degeneration
Wet macular degeneration involves the growth of new blood vessels, while dry macular degeneration does not (correct)
Dry macular degeneration is a more advanced form of the disease compared to wet macular degeneration

What is the role of diagnostic imaging in precision medicine for eye diseases?

Diagnostic imaging is not used in precision medicine for eye diseases
Diagnostic imaging is used to tailor treatment based on the individual patient's eye condition (correct)
Diagnostic imaging is used to screen for potential eye diseases before they develop
Diagnostic imaging is used to identify the specific genetic mutations causing the eye disease

Which of the following is not a common retinal condition?

Retinal cancer (D) Signup and view all the answers

What is the main challenge in the personalized approach to diagnosing and treating eye diseases?

The lack of FDA-approved treatments for personalized eye disease management (D) Signup and view all the answers

What is the primary cause of vision loss in age-related macular degeneration?

Deterioration of the macula (C) Signup and view all the answers

Which of the following eye diseases is not mentioned in the text?

Keratoconus (A) Signup and view all the answers

What is the role of nutritional intervention in the treatment of macular degeneration?

Nutritional intervention can prevent the progression of dry macular degeneration to the wet form (D) Signup and view all the answers

What is the primary function of the RB1 gene?

Regulating cell growth and preventing uncontrolled cellular division (A) Signup and view all the answers

What genetic testing is recommended for individuals diagnosed with retinoblastoma?

RB1 mutation analysis to distinguish hereditary from sporadic cases (C) Signup and view all the answers

How does genetic testing for RB1 mutations impact patient management?

It informs prognosis, monitoring intensity, and personalized risk assessment (B) Signup and view all the answers

What is the advantage of intensive monitoring and early diagnosis of high-risk infants with retinoblastoma?

It enables the use of less invasive ocular salvage treatments (D) Signup and view all the answers

What is the primary characteristic of monogenic macular dystrophies?

They are caused by mutations in a single gene (A) Signup and view all the answers

What complicates the diagnosis of monogenic macular dystrophies?

Incomplete penetrance and variability in disease expression (A) Signup and view all the answers

What is the inheritance pattern and primary clinical feature of Stargardt disease (STGD1)?

Autosomal recessive, rapid central vision loss (B) Signup and view all the answers

What is the molecular mechanism underlying Stargardt disease (STGD1)?

Mutations in the ABCA4 gene lead to accumulation of toxic lipofuscin in RPE cells (D) Signup and view all the answers

Which of the following is a dominant macular dystrophy caused by mutations in EFEMP1?

Doyne honeycomb retinal degeneration (D) Signup and view all the answers

What is the proposed mechanism behind the photoreceptor and RPE dysfunction in Best vitelliform macular dystrophy (BVMD)?

Accumulation of subretinal fluid and vitelliform material originating from the outer photoreceptors, leading to RPE overload (C) Signup and view all the answers

Which gene mutation is associated with Sorsby fundus dystrophy, a condition resembling neovascular age-related macular degeneration with an early onset?

TIMP3 (C) Signup and view all the answers

Which of the following gene mutations is known to cause recessive forms of glaucoma with an onset before the age of 40?

CYP1B1 and LTBP2 (C) Signup and view all the answers

What is the proposed mechanism behind the accumulation of lipofuscin in and around the macula?

The natural aging process of the retinal pigment epithelium (RPE) cells (B) Signup and view all the answers

Which of the following statements is true regarding the impact of detecting genetic mutations in early onset glaucoma?

It helps determine the mode of inheritance and enables appropriate surveillance and timely treatment, which may prevent or limit sight loss (A) Signup and view all the answers

Which of the following statements is true regarding the inheritance patterns of glaucoma caused by known gene mutations?

Mutations in CYP1B1 and LTBP2 cause recessive traits, while other known genes may cause dominant forms (D) Signup and view all the answers

Which of the following genes is associated with autosomal dominant Best vitelliform macular dystrophy (BVMD)?

BEST1 (D) Signup and view all the answers

Which technique is mentioned in the text as important for investigating the dysmorphic or developmentally delayed infant with an ocular phenotype?

Fluorescent in situ hybridization (FISH) and microarrays (B) Signup and view all the answers

What type of sequencing will contribute to specific clinical diagnoses where there is accurate phenotypic data for monogenic disorders?

Conventional sequencing (B) Signup and view all the answers

Which retinal condition with a characteristic phenotype is mentioned in the text?

Doyne syndrome (D) Signup and view all the answers

What is identified as the greatest challenge to the integration of NGS into clinical practice according to the text?

The ability to understand the effects of identified variants on disease causation (B) Signup and view all the answers

Which of the following is NOT mentioned in the text as a technological challenge of NGS?

Data processing (A) Signup and view all the answers

What is currently a deterrent for the adoption of NGS in many clinical settings?

The cost of managing, storing and analyzing NGS data (A) Signup and view all the answers

How is the analysis of disease-causing variants described in the text?

It is carried out on a case-by-case basis, often in a research setting (A) Signup and view all the answers

What type of software programs are mentioned in the text as being used to analyze the pathogenicity of sequence changes?

Information-based models that aim to predict pathogenicity (B) Signup and view all the answers

What is the primary advantage of deep learning models in diagnostic imaging?

They can automatically extract features and classify input data without the need for manual feature engineering. (A) Signup and view all the answers

Which of the following is NOT a principal use-case scenario for the application of AI and machine learning in retina images?

Retinal thickness measurement (C) Signup and view all the answers

What is the primary purpose of Optical Coherence Tomography (OCT) in the context of retinal diseases?

All of the above. (D) Signup and view all the answers

What is the current limitation of most commercial OCT systems regarding clinical decision-making?

Most clinical decisions are made based on subjective clinician interpretation of imaging features. (B) Signup and view all the answers

What is the primary benefit of using higher-order OCT analysis with machine-learning augmentation?

It provides new opportunities for targeted layer/zone specific interrogation and pathology-specific segmentation. (A) Signup and view all the answers

What is the key finding regarding the performance of machine learning algorithms compared to human graders in the analysis of color fundus photography (CFP) and OCT images?

Machine learning algorithms and human graders have comparable performance in the analysis of CFP and OCT images. (C) Signup and view all the answers

Which of the following is NOT a key feature of next-generation OCT assessment enabled by machine learning algorithms?

Improved clinician interpretation of imaging features. (A) Signup and view all the answers

Which of the following is a key limitation of current commercial OCT systems highlighted in the text?

They do not provide any software for retinal thickness measurements. (B) Signup and view all the answers