Rare Ophthalmology News

In an average year, about how many cases of Acanthamoeba keratitis are seen in the United States?

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Which developmental anomaly refers to the absence of one or both eyes during embryonic growth?

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Myotonic dystrophy is the most common lethal monogenic disorders in populations of which descent?

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Almost one-fourth of documented cases of Kindler syndrome, a very rare type of epidermolysis bullosa, were found in native tribes of which country?

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Which of the following is not a typical early sign of keratoconus?

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What is the average age that patients with Gardner syndrome are diagnosed?

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Which famous actor suffered from Myasthenia gravis?

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Niemann-Pick Disease Type C is most often seen in patients of which ancestry?

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Niemann-Pick Disease Type B is most often seen in patients of which ancestry?

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Niemann-Pick Disease Type A is most often seen in patients of which ancestry?

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Where were the first cases of Alagille syndrome described?

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Which of these films about rare disease patients focuses on adrenoleukodystrophy?

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Which technology entrepreneur is funding the development of Neuralink, the start-up that is at the forefront of neurotechnology?

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Which of these films about rare disease patients focuses on Morquio syndrome?

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Which famous rapper had Duchenne’s Muscular Dystrophy?

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Alstrom syndrome is more common in which of the following groups?

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Which of the following is not considered one of the classic symptoms of ADULT syndrome?

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What is the important action of the bacterial Cas9 enzyme that has application in clinical medicine?

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The human exome represents about 1% of the genome. Approximately what percent of known disease-related variants are contained in the exome?

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The human genome contains about 25,000 genes. Approximately how many different proteins are produced by the human genome?

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What’s the 5-year survival rate for metastatic Uveal melanoma?

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Approximately what percentage of blind patients are estimated to have non 24 syndrome?

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“The Island of the Colorblind” a book that described a uniquely high achromatopsia prevalence was written by which famous “physician author”?

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What percentage of blindness does Uveitis account for in the United States?

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What famous composer is thought to have suffered from Cogan’s syndrome, in additon to several other maladies?

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mRNA was discovered in the early 1960s, but it took advances in nanotechnology to determine how to optimize delivery into cells. Which famous physicist pioneered the concept of nanotechnology?

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Which of these rare diseases has several antisense therapies approved for treatment?

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What’s the most commonly seen serious side effect with CAR-T cell therapy?

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Which type of viral vector is the most commonly used gene therapy delivery system in current clinical trials?

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The most common comorbidity of Barth syndrome is_______?

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Which of the following is not a typical symptom of the Carney complex?

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Which of the following is not a common symptom of visual snow syndrome?

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People from this continent are more likely to have Bietti’s crystalline dystrophy (BCD)

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The most common misdiagnosis of ataxia telangiectasia is…..

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Ehlers-Danlos syndrome is a group of inherited disorders that affect connective tissues. In October 2019, which singer/songwriter announced that they were living with Ehlers-Danlos?

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The triad of organs affected by granulomatous inflammation in Blau syndrome is….

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The infections and subsequent granulomas in chronic granulomatous disease (CGD) are caused by a defect in phagocytosis. Which defect in phagocytosis is responsible for causing CGD?

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When are the symptoms of Stargardt disease most commonly seen?

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Which famous female tennis player was diagnosed with Sjögren’s syndrome at age 31?

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In what country is the prevalence of Behcet’s disease the highest?

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Which of the following organs is not generally affected by the tuberous sclerosis complex?

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What is usually the first sign of retinitis pigmentosa?

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In which country was Aicardi-Goutières syndrome first identified?

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