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Med Gen II > Ophthalmology > Flashcards

Ophthalmology Flashcards

1
Q

Cornea

A

covering over lens to focus light

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2
Q

Lens

A

Focuses light in the macular

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3
Q

Vitreous

A

gel-like substance in center of eye

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4
Q

Retina

A

Contains photoreceptors to convert light into chemical messages

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5
Q

Optic nerve

A

sends messages to brain

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6
Q

Macula

A

Area surrounding fovea

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7
Q

Fovea

A

Area where visual acuity is the greatest

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8
Q

Rods

A

Most dense in outer edges
Assist with low light and peripheral vision

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9
Q

Cones

A

Most dense in macula
Help with central and color vision

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10
Q

Photoreceptors

A

nerve cells within the retina that allow light to be converted into biochemical processes

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11
Q

BEST Disease

A

Non-syndromic
Juvenile form of macular dystrophy
Trouble with central vision and distortion of objects
Most don’t develop night blindness or loss of peripheral vision
BEST1 gene
AD

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12
Q

Stargardt Disease

A

Non-syndromic
Most common inherited macular dystrophy (1:10,000)
Decreased VA, loss of central and decreased color vision due to cone damage
Peripheral vision usually okay

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13
Q

Stargardt Diseasse characteristics

A

yellow flecks (drusen) seen around macula and in periphery
Has beaten metal appearance

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14
Q

Choroideremia

A

Non-syndromic
Being in teens
First sign is night blindness, then loss of peripheral vision and poor depth perception
Central vision preserved until later in life

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15
Q

Choroideremia genetics

A

X-linked
CHM gene

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16
Q

Retinitis Pigmentosa

A

First sign is night blindness, then loss of peripheral vision and poor depth perception
Advanced RP involves cone death leading to decreased color vision and central acuity

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17
Q

Isolated RP inheritance

A

AD, AR, or X-linked

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18
Q

What type of conditions often have RP

A

Mitochondrial

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19
Q

Most common gene for AD RP

A

RHO
(also associated with sectoral RP)

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20
Q

Most common gene for AR RP

A

USH2A

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21
Q

Genes associated with X-linked RP

A

RPGR - 70-90% (has ORF15 hotspot)
RP2 - 10-20%
OFD1

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22
Q

Leber Congenital Amaurosis

A

Non-syndromic
Severe RP
Dystrophy of retina, nystagmus (repetitive uncontrolled movements), photobia (sensitivity to light), high hyperopia (farsightedness, keratoconus (cornea gets thinner)
Franceschetti’s oculo-digital sign
Usually AR
May have DD

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23
Q

Isolated Aniridia

A

Complete or partial iris hypoplasia with associated foveal hypoplasia
Decreased visual acuity and nystagmus
Can have cataract, glaucoma and corneal opacities, and vascularization

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24
Q

Isolated Aniridia genetics

A

AD
PAX6

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25
Q

Anophthalmia

A

Absence of one or both eyes

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26
Q

Micropthalmia

A

one or both eyes are small

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27
Q

Coloboma

A

non-closure of the optic fissure

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28
Q

What percent of anophthalmia, microphthalmia, and coloboma are caused by chromosome abnormalities

A

25-30%

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29
Q

Congenital and juvenile cataract

A

clouding of lens
All forms of inheritance

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30
Q

Primary Congenital Glaucoma

A

Increased intraocular pressure, enlargement of globe, edema, and opacification of the cornea
Can have photophobia, belpharospasm (twitching of eye), and excessive tearing
Symptoms usually in 1st year of life

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31
Q

Isolated Primary Congenital Glaucoma genes

A

AR - CYP1B1 and LTBP2
AD - TEK

32
Q

Primary Open Angle Glaucoma

A

Increased intraocular pressure causing vision loss due to optic nerve damage
3-35 years for AOA
AD

33
Q

Age Related Macular Degeneration (AMD)

A

Leading cause of vision loss in individuals 65 and over
Affects central vision

34
Q

What type of AMD has possible treatment

A

wet

35
Q

Risk of AMD with older diagnosed sibling

A

2-10X

36
Q

Risk of AMD with affected 1st degree relative

A

4X

37
Q

What is the most significant environmental factor of AMD

A

Smoking

38
Q

How many types of Usher Syndrome are there and what is the inheritance

A

3
AR

39
Q

Usher Syndrome Type 1

A

SNHL, vestibular areflexia, adolescent onset RP

40
Q

Usher Syndrome Type 2

A

Type 1 without vestibular involvement

41
Q

Usher syndrome Type 3

A

Postlingual SNHL, late onset RP, variable vestibular involvement

42
Q

Bardet-Biedl Syndrome

A

Cone-rod dystrophy
RP
Truncal obesity
Postaxial polydactyly
Renal disease
GI malformation
ID
DD
Hypogonadism

43
Q

Bardet-Biedl Syndrome Inheritance

A

AR

44
Q

Oculocutaneous Albinism

A

Hypopigmentation of skin and hair
Nystagmus, reduced iris pigment, strabismus, foveal hypoplasia with decreased visual acuity

45
Q

How many types of Oculocutaneous Albinism

A

5
OCA1-4 and Hermansky-Pudlak

46
Q

Oculocutaneous Albinism inheritance

A

AR

47
Q

Ocular Albinism

A

Nystagmus, reduced iris pigment, strabismus, foveal hypoplasia with decreased visual acuity

48
Q

Ocular Albinism genetics

A

X-linked
GPR143 gene

49
Q

Leber Hereditary Optic Neuropathy

A

Subacute bilateral vision loss (begins with blurry central vision)
Mild neuro symptoms

50
Q

Leber Hereditary Optic Neuropathy genetics

A

Mitochondrial with incomplete penetrance

51
Q

Who have a 4-5X chance of developing Leber Hereditary Optic Neuropathy

A

Males

52
Q

Optic Atrophy Type 1 (OPA1)

A

Progressive bilateral vision loss with decreased visual acuity, visual field defects, and color deficits
SNHL

53
Q

OPA1 geneteics

A

AD
OPA1 and OPA3

54
Q

WAGR Syndrome

A

Wilms tumor
Aniridia
Genitourinary anomalies
Retardation
Obesity
Neuro

55
Q

WAGR Genetics

A

AD
PAX6 and WT1 genes

56
Q

Lowe Syndrome

A

Congenital cataracts
Hypotonia
Delayed motor milestones
Absent deep tendon reflexes
ID
Proximal renal tubular dysfunction
SS
Dental cysts

57
Q

Lowe Syndrome genetics

A

X-linked
OCRL gene

58
Q

Retinoblastoma

A

Malignant tumor in retina
Unifocal or multifocal
Other tumors: pinealomas, sarcomas, melanoma
Cat’s eye reflex

59
Q

Retinoblastoma genetics

A

AD
RB1 gene or deletion/rearrangements of 13q14

60
Q

Corneal clouding associated with

A

MPS disorders

61
Q

Heterochromia associated with

A

Waardenburg Syndrome

62
Q

Cherry red spot associated with

A

Tay-Sachs, Sandhoff, and Neimann-Pick Disease

63
Q

Retinal detachments associated with

A

Stickler Syndrome

64
Q

Extopia lentis associated with

A

Marfan Syndrome, Homocystinuria

65
Q

CHRPE associated with

A

FAP

66
Q

Kayser-Fleischer rings associated with

A

Wilson Disease

67
Q

Stellate irides associated with

A

Williams syndrome

68
Q

Retinal lacunae associated with

A

Aicardi Syndrome

69
Q

Coloboma associated with

A

CHARGE

70
Q

WES identifies a molecular etiology for what percentage of retinal patients

A

60%

71
Q

What is sometimes the first symptom of a syndrome

A

congenital cataracts

72
Q

Percent of patients that have unilateral retinoblastoma; percent with bilateral

A

60%
40%

73
Q

Individuals with what kind of rentinoblastoma are more likely to have germline variants

A

bilateral and/or multifocal

74
Q

For individuals with bilateral, unilateral familial, or unilateral multifocal retinoblastoma, should do what testing

A

RB1 seq and del/dup

75
Q

What is the eye a good target for gene therapy

A

Easier target
Many hereditary eye disorders only affect vision
Limited opportunity for the replacement gene to leave the eye

76
Q

Gene therapy for RPE65 variants

A

Luxturna

77
Q

Stem cell therapy

A

allows treatment for individuals with more advanced disease
Can be created from the patient’s own blood cells
May be able to be used with gene therapy
May have broad use in treating many forms of blindness

Med Gen II (9 decks)

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