Ocular Genetics

Description: This quiz aims to assess your understanding of the field of Ocular Genetics, covering various aspects related to the genetic basis of eye disorders and conditions.
Number of Questions: 15
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Tags: ocular genetics ophthalmology genetics
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Which gene is primarily responsible for the development of retinoblastoma, a childhood eye cancer?

  1. RB1

  2. BRCA1

  3. TP53

  4. APC


Correct Option: A
Explanation:

RB1, also known as the retinoblastoma gene, is the primary gene associated with the development of retinoblastoma.

What is the most common inherited form of macular degeneration?

  1. Stargardt disease

  2. Age-related macular degeneration (AMD)

  3. Best disease

  4. Cone-rod dystrophy


Correct Option: A
Explanation:

Stargardt disease is the most common inherited form of macular degeneration, characterized by progressive loss of central vision due to degeneration of the macula.

Which genetic condition is characterized by the presence of an extra copy of chromosome 21?

  1. Down syndrome

  2. Turner syndrome

  3. Klinefelter syndrome

  4. Angelman syndrome


Correct Option: A
Explanation:

Down syndrome is caused by the presence of an extra copy of chromosome 21 and is associated with various physical and intellectual disabilities, including an increased risk of eye problems.

What is the name of the genetic mutation responsible for the majority of cases of Leber congenital amaurosis (LCA)?

  1. RPE65

  2. GUCY2D

  3. CRX

  4. USH2A


Correct Option: A
Explanation:

Mutations in the RPE65 gene are the most common cause of Leber congenital amaurosis, an inherited retinal disorder characterized by severe visual impairment or blindness from birth.

Which genetic condition is characterized by progressive loss of vision due to degeneration of the optic nerve?

  1. Glaucoma

  2. Retinitis pigmentosa

  3. Optic atrophy

  4. Cataracts


Correct Option: C
Explanation:

Optic atrophy is a genetic condition characterized by progressive loss of vision due to degeneration of the optic nerve, often leading to blindness.

What is the name of the genetic mutation responsible for the majority of cases of retinitis pigmentosa (RP)?

  1. RHO

  2. RPGR

  3. USH2A

  4. CNGB1


Correct Option: A
Explanation:

Mutations in the RHO gene are the most common cause of retinitis pigmentosa, an inherited retinal disorder characterized by progressive loss of peripheral vision and night blindness.

Which genetic condition is characterized by the presence of an extra copy of the X chromosome?

  1. Klinefelter syndrome

  2. Turner syndrome

  3. Down syndrome

  4. Angelman syndrome


Correct Option: A
Explanation:

Klinefelter syndrome is caused by the presence of an extra copy of the X chromosome and is associated with various physical and intellectual disabilities, including an increased risk of eye problems.

What is the name of the genetic mutation responsible for the majority of cases of Usher syndrome type 1?

  1. MYO7A

  2. USH1C

  3. CDH23

  4. PCDH15


Correct Option: A
Explanation:

Mutations in the MYO7A gene are the most common cause of Usher syndrome type 1, an inherited condition characterized by hearing loss, vision loss, and balance problems.

Which genetic condition is characterized by progressive loss of vision due to degeneration of the retina?

  1. Glaucoma

  2. Retinitis pigmentosa

  3. Optic atrophy

  4. Cataracts


Correct Option: B
Explanation:

Retinitis pigmentosa is a genetic condition characterized by progressive loss of vision due to degeneration of the retina, often leading to blindness.

What is the name of the genetic mutation responsible for the majority of cases of cone-rod dystrophy?

  1. ABCA4

  2. RPGR

  3. USH2A

  4. CNGA3


Correct Option: A
Explanation:

Mutations in the ABCA4 gene are the most common cause of cone-rod dystrophy, an inherited retinal disorder characterized by progressive loss of color vision and night blindness.

Which genetic condition is characterized by the presence of an extra copy of the Y chromosome?

  1. Klinefelter syndrome

  2. Turner syndrome

  3. Down syndrome

  4. XYY syndrome


Correct Option: D
Explanation:

XYY syndrome is caused by the presence of an extra copy of the Y chromosome and is associated with various physical and intellectual disabilities, including an increased risk of eye problems.

What is the name of the genetic mutation responsible for the majority of cases of Bardet-Biedl syndrome?

  1. BBS1

  2. BBS2

  3. BBS3

  4. BBS4


Correct Option: A
Explanation:

Mutations in the BBS1 gene are the most common cause of Bardet-Biedl syndrome, an inherited condition characterized by obesity, intellectual disability, and various eye problems.

Which genetic condition is characterized by progressive loss of vision due to degeneration of the cornea?

  1. Glaucoma

  2. Retinitis pigmentosa

  3. Optic atrophy

  4. Keratoconus


Correct Option: D
Explanation:

Keratoconus is a genetic condition characterized by progressive thinning and bulging of the cornea, leading to distorted vision and sensitivity to light.

What is the name of the genetic mutation responsible for the majority of cases of aniridia?

  1. PAX6

  2. ANIRID

  3. FOXC1

  4. PITX2


Correct Option: A
Explanation:

Mutations in the PAX6 gene are the most common cause of aniridia, a genetic condition characterized by the absence or incomplete development of the iris.

Which genetic condition is characterized by progressive loss of vision due to degeneration of the lens?

  1. Glaucoma

  2. Retinitis pigmentosa

  3. Optic atrophy

  4. Cataracts


Correct Option: D
Explanation:

Cataracts are a genetic condition characterized by clouding of the lens, leading to blurred vision and eventually blindness if left untreated.

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