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Med Gen Ocular > Retinal Dystrophies > Flashcards

Retinal Dystrophies Flashcards

1
Q

What is fundus autoflourescence?

A

how well & efficiently cells are metabolizing
* bright spots = not getting rid of waste
* white spots = dead cells

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2
Q

Can electroetinography provide a representaiton of vision?

A

No, it tells us about how the retina is functioning

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3
Q

What does an electroretinography do?

A

measures retinal function to different light stimuli
* full field ERG = measures whole retina function
* multifocal ERG = measures function of the macula

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4
Q

Retinitis pigmentosa is a (progressive/stable) disorder of the retina which primarily affects the light-sensitive cells (rods>cones)

A

Retinitis pigmentosa is a progressive, degenerative disorder of the retina which primarily affects the light-sensitive cells (rods>cones)

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5
Q

What is often the presenting sympotm for retinitis pigmentosa?

A

night vision affected

b/c rods are the more light sensitive receptors

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6
Q

What are the symptoms of RP?

A
  • poor night vision
  • gradual loss of peripheral vision
  • later blurring of central vision

only definite is poor night vision, others do not present in all pateints with RP

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7
Q

What test is able to detect the retinal dysfunction of rods>cones in retinitis pigmentosa?

A

ERG

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8
Q

In later stages of retinal disease the ERG results may not be recordable b/c vision is below the threshold of the test. What is a valuable tool in distinguising the suspected retinal disease?

A

patient’s recollection of viison history - what symptoms the vision loss began with for exmaple

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9
Q

What is ‘pigmentosa’ describing in retinitis pigmentosa?

A
  • the fundus has “bone spicule” pigmentary clumps aka black clumps.
  • very characteristic feature of RP

The fundus is the inside, back surface of the eye. It is made up of the retina, macula, optic disc, fovea and blood vessels. With fundus photography, a special fundus camera points through the pupil to the back of the eye and takes pictures

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10
Q

What is retinitis pigmentosa also known as?

A

rod-cone dystrophy

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11
Q

What is the best genetic testing option for retinitis pigmentosa?

A

a multi-gene panel

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12
Q

What are the possible inheritance patterns for retinitis pigmentosa?

A
  • AD
  • AR
  • XLr
  • maternal (mito dNA)
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13
Q

In an AR presenting pedigree, what is the most common gene assocaited with RP?

A

*
*

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14
Q

What founder mutation should be kept in mind for RP?

A
  • MAK gene
  • Jewish ancestry
  • 1 in 55 Jews are carriers (not just AJ)
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15
Q

“Sector” RP gene

A

RHO

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16
Q

What is sector RP?

A

black pigment clumps are isolated to the lower quadrant of the retina only

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17
Q

80% of XLRP families are attributed to what gene?

A

RPGR

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18
Q

15% of simplex males with RP is attributed to what gene?

A

RPGR
(XLRP)

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19
Q

> 50% of RPGR mutations occur in the

A

ORF15

I have no idea what this is.

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20
Q

Can X-Linked female carriers of an RP gene variant have sympotms?

A

yes

This is believed to be due to skewed X inactivation

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21
Q

Is retinitis pigmentosa a
1. photoreceptor disease
2. macular disease
3. third branch disorder

A

photoreceptor disease

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22
Q

Is choroideremia a
1. photoreceptor disease
2. macular disease
3. third branch disorder

A

third branch disorder

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23
Q

If a patient presents for genetic testing with retinitis pigmentosa symptoms but all genetic testing for RP is negative, what other condition should be tested for?

A

choroideremia

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24
Q

What is the prevelance of choroideremia?

A

1 in 50,000

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25
Q

What is the prevelance of retinitis pigmentosa?

A
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26
Q

What is the disease process for choroideremia?

A

chorioretinal degeneration

choroid is affected first

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27
Q

What is the choroid of the eye?

A

A thin layer of tissue that is part of the middle layer of the wall of the eye, between the sclera (white outer layer of the eye) and the retina (the inner layer of nerve tissue at the back of the eye). The choriod is filled with blood vessels that bring oxygen and nutrients to the eye.

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27
Q

What is the inheritance pattern of choroideremia?

A

X-linked recessive

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28
Q

What are the symptoms of choroideremia?

A
  • poor night vision
  • gradual, progressive peripheral vision loss
  • central vision remains well-presevered for several decasdes
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29
Q

The ERGs and visual field for choroideremia can look just like RP. What imaging can distinguish choroideremia from RP?

A
  • FAF = scalloped area of atrophy
  • OCT can show choroidal thinning in early disease = atypical for RP

FAF = fundus autoflourescence
OCT = optical coherence tomography

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30
Q

What gene is assocaited with choroideremia and what is the identification rate when testing?

A
  • CHM
  • mutation identified >95%
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31
Q

How are female carriers affected in choroideremia?

A

heterozygotes can become symptomatic, often later in life than affected hemizygotes

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32
Q

Congenital form of retinitis pigmentosa

A

Leber congenital amaurosis (LCA)

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33
Q

Prevelance of Leber Congenital Amaurosis

A

1 in 30,000

34
Q

(AD/AR) inheritance is most common for LCA, while (AD/AR) is less common

A

(AD/AR) inheritance is most common for LCA, while (AD/AR) is less common

LAC = Leber Congenital Amaurosis

35
Q

What is the vision loss pattern for LCA?

A

significant low vision at birth with progressive loss

LAC = Leber Congenital Amaurosis

36
Q

Which condiiton has genotype overlap with LCA?

A

severe early childhood-onset retinal dystrophy (SECORD/ECORD)

LAC = Leber Congenital Amaurosis

37
Q

What are the symptoms of LCA?

A
  • nystagmus in infancy
  • poor visual response
  • oculo-digital sign (push on eye with finger)
  • “macular coloboma”
  • enophthalmos (sometimes)
  • hyperopia (farsighted) (sometimes)
38
Q

What is there to know about ERG for LCA?

A
  • ERG is usulaly non-recordable
  • done under anasthesia
  • only done if needed by the family

LAC = Leber Congenital Amaurosis

39
Q

Most genes for LCA are assocaited with AR inheritance. Which genes are associated with AD inheritance and what are the most important AR genes?

A
  • AD: CRX, IMPDH1, OTX2
  • AR: CEP290, RPE65
40
Q

Which LCA gene has a gene therapy?

A

RPE65

41
Q

What can RPE cause besides LCA?

A

AD choroideremia-like disease (remember, AR for LCA)

probably EOCRD too b/c of genotype overlap

42
Q

Which conditions all meet the following
* congenital
* non-progressive
* present with nystagmus
* normal fundus exam

A
  • Congenital Stationary Night Blindness (CSNB)
  • Achromatopsia
  • Blue Cone Monocromacy (BCM)
43
Q

Features of Congenital Stationary Night Blindness (CSNB)

A
  • present with nystagmus
  • +/- poor night vision
  • high myopia (near sightedness)
  • +/- color vision abnormalities
  • vision can be reduced or 20/20
44
Q

Exam findings for Congenital Stationary Night Blindness (CSNB)

A
  • normal fundus, OCT, and FAF exams
  • full field ERG has electronegative b-wave
45
Q

Features of Achromatopsia

A
  • photophobia
  • sometimes hyperopic
  • color blindness
  • reduced visual acuity
46
Q

Exam findings for Achromatopsia

A
  • fundus and OCT = normal
  • ERGs = cone dysfunction
47
Q

Features of Blue Cone Monochromacy (BCM)

A
  • can be photophobic
  • high myopia (very high - in glasses) (nearsightedness)
  • color blindness (can be progressive)
  • reduced visual acuity
  • non-progressive low vision
48
Q

Exam findings for Blue Cone Monochromacy (BCM)

A
  • OCT & fundus = normal
  • ERG = cone dysfunction
49
Q

Congenital Stationary Blindness is associated with which inheritance patterns?

A
  • XLr
  • AR
  • AD
50
Q

What is the inheritance pattern for Achromatopsia?

A

AR

51
Q

What are the two most common genes assocaited with Achromatopsia?

A
  • CNGA3
  • CNGB3

Other genes: GNAT2, PDE6C, PDE6H, ATF6

52
Q

What is the medchanism of Blue cone monocromacy (BCM)?

A

congenital dysfunction of long (red) and medium (green) wavelength cones

53
Q

BCM inheritance pattern & gene

A
  • XLr
  • OPN1LW/MW
54
Q

BCM mutation mechanism

A
55
Q

What is the most common inheritance pattern for RP?

A

AR

56
Q

What is the main XL RP gene?

A

RPGR

57
Q

Gene and inheritance pattern for Sector RP

A
  • gene = RHO
  • AD
58
Q

Homozygous USH2A is associated with what condtion?

A

non-syndromic RP

& type 2 Ushers?

59
Q

Describe hearing loss for Usher Types 1 -3

all have progressive RP

A
  • Usher Type 1: profound cong. HL
  • Usher Type 2: moderate -> severeHL
  • Usher Type 3: post-lingual HL
60
Q

Choroideremia
* gene
* phenotype
* disease branch
* inheritance

A
  • gene = CHM
  • phenotype = similar to RP
  • 3rd branch disorder
  • XL
61
Q

Non-progressive, congenital, normal fundus photoreceptor conditions

A
  • CSNB (XL, AR, AD)
  • Achromotopsia (AR) cones don’t work
  • Blue cone monochromosy (XLr) blue cones (short wave length) work
62
Q

2 conditions with electronegative B wave on ERG

A
  1. CSNB
  2. juvenile XL retinoschisis
63
Q

RP characteristic feature

A

bone spicule pigments/black clumpy pigments

64
Q

USH2A

A
  • AR
  • non-syndromic RP
  • Usher Type 2
65
Q

RPGR

A
  • XL RP
  • XL cone rod dystrophy
66
Q

Choroideremia

A
  • 3rd branch disease
  • XL
  • CHM
  • scallped look on FAF
  • same phenotype as RP
67
Q

LCA

A
  • RPE65 (AR)
  • cong onset
  • occulodigital sign
  • coloboma
  • nystagmus
  • nonrecordable ERG
  • CEP290 is syndromic
68
Q

CSNB and XL juveline retinoschisis have

A

electronegative B wave

69
Q

Juvenie XL Retinoschisis

A
  • spoke wheel in fovea
  • RS1 disease
70
Q

Nori Disease

A
  • retina never developed properly
71
Q

Stickler

A
  • retinal detachments
  • vitreous abnormalities
  • high myopia
  • football shaped eye
  • COL2A1 = predominantly ocular and supportive of prophylactic laser therapy
72
Q

FEVR

A

peripheral nonperfusion of retinal vessels
vessels stop short and then grow weird

73
Q

VCAN

A
  • eye looks like Stickler but no syndromic features
74
Q

Knobloch

A
  • encephalocele
  • back of head
  • alopecia in back of head
75
Q

Usher syndrome genes

A
  • MYO7A = type 1
  • USH2A = type 2
76
Q

Usher syndrome inheritance pattern usually

A

AR

77
Q

Bardet-Biedl syndrome

A
  • postaxial polydactyly (pinky toe or finger)
  • triallelic inheritance
78
Q

Joubert Syndrome

A
  • RP (cong or childhood)
  • CEP290
  • move entire head to see (occulomotor aprexia)
  • coloboma
79
Q

Alstrom

A
  • cone-rod dystrophy
  • severe photophobia
  • AR
  • ALMS1
80
Q

Heimler

A
  • peroxisomal
  • Usher differential
  • Zellweiger is a more severe version of this
  • phenotype overlap with Jalili
81
Q

Jalili Syndrome

A
  • hearing is normal
  • similar to Heimler in all other ways
82
Q

Spinocerebellar Ataxia

A
  • trinucleotide repeat dx

Med Gen Ocular (9 decks)

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