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RETINA ANAMOLIES DX/WU/TX > RETINA - HEREDITARY RETINOPATHIES > Flashcards

RETINA - HEREDITARY RETINOPATHIES Flashcards

1
Q

what are 8 types of hereditary retinal dystrophies?

A
  1. retinitis Pigmentosa
  2. stargardt disease
  3. Best’s disease
  4. progressive cone dystrophy
  5. gyrate atrophy
  6. familial dominant drusen
  7. von hippel-lindau disease
  8. Leber’s congenital amaurosis
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2
Q

what is retinitis pigmentosis (RP)?

A

it’s a group of inherited retinal disorders characterized by progressive photoreceptor (& RPE function) degeneration.

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3
Q

which is the most common hereditary retinal dystrophy?

A

retinitis pigmentosa

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4
Q

what is the average age of retinitis pigmentosa?

A

age 9-20

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5
Q

what causes (pathophysiology) RP?

A

cause by abnormal protein production that causes progressive loss of PR (rods + cones).

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6
Q

are cones or rods damaged first in RP?

A

rods

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7
Q

symptoms of RP?

A

Rods are affected first:
* Nyctalopia (hallmark)
* Mid-peripheral ring scotoma
* VF constriction

Cones are affected second:
* trianopic color vision defects
* progressive loss of central vision starting at age 20.

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8
Q

signs of RP? what is the classic triad?

A

Triad:
1. Attenuated vessels
2. Retinal bone-spicules pigmentation
3. Waxy optic disc pallor

Other signs:
* PSC (30-50%)
* macula signs: CME / ERM / RPE atrophy
* ERG - scotopic ERG is reduced

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9
Q

what is the work-up for RP?

A
  1. Mac OCT - standard of care
  2. ERG - scotopic will be reduced.
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10
Q

what systemic Dz is RP asscociated with?

A

Usher’s syndrome (congential hearing loss)

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11
Q

tx/managment for RP?

A
  1. vitamin A - slows progression.
  2. low vision consult
  3. acetazolamide - for macular edema (if present).
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12
Q

what 3 medication is c/i in RP?

A
  1. isotretinoin
  2. sildenafil
  3. vitamin E
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13
Q

what is stargardt’s Dz?

A

It’s characterized by a reduction of central vision with a preservation of peripheral vision.

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14
Q

female or males get stargardt’s more common?

A

M=F

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15
Q

whats the onset of stargart’s dz?

A

<20 y/o

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16
Q

what is the most common hereditary macular disease?

A

stargardt’s

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17
Q

what causes stargardt’s?

A

accumulation of all-trans retinal w/in the PR disc –> ultimately leads to toxic levels of A2PE which is hydrolyze to a highly toxic metabolite, A2E –> A2E accumulates as a component of lipofuscin in RPE –> this leading to degeneration of RPE & eventually PR b/c of lack of RPE supply.

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18
Q

symptoms of stargardts?

A
  • Bilateral decrease central VA in the 1st- 2nd decade of life w/out previous subnormal vision & often out of proportion w/ fundus appearance.
  • Color vison abnormalities - R/G deficiency
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19
Q

signs of stargardts?

A
  • Early: pathognomonic pisciform flecks, yellowish flecks of lipofuscin scattered throughout the posterior pole & mid-periphery.
  • Late: ring of atrophy in the macula.
  • Late: pathognomonic “beaten bronze” appearance - macular lesion surrounded by yellow-flecks.
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20
Q

tx/managment for stargardt’s?

A
  • Pt should avoid vitamin A - slows down accumulation of lipofuscin.
  • DHA supplementation - may delay RPE & PR death
  • UV sunglasses – for photophobia
  • Low vision aids
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21
Q

what is best disease?

A

abnormal accumulation of material (lipofuscin) in the RPE.

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22
Q

what are symptoms of Best’s Dz?

A

signs are more severe than symptoms:
* Asymptomatic (75% better than 20/40 VA)
* Eventually mild decrease VA

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23
Q

what are the stages of Best Dz?

A
  • Stage 1  pre-vitelliform
  • Stage 2  vitelliform
  • Stage 3  Pseudohypopyon
  • Stage 4  vitelliruptive
  • Stage 5  end-stage
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24
Q

what are the signs for each stage of Best’s Dz?

A
  • Stage 1 - characterized by abnormal EOG (Arden ration < 1.8) with a normal fundus is an asymptomatic patient.
  • Stage 2 - bilateral egg-yolk macular lesion appears.
  • Stage 3 - the entire lesion can become absorbed w/ little to no effect on vision.
  • Stage 4 - egg-yolk starts to break up and gives a “scrambled-egg” appearance. (Mild vision loss).
  • Stage 5 - characterized by moderate to severe vision loss due to CNVM, hemorrhage, atrophy, & macular scarring.
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25
Q

pathognomonic sign for best dz?

A
  • Pathognomonic - bilateral & progressive yellow, round, lesions filled w/ lipofuscin at the fovea (“egg-yolk”).
26
Q

what is the work up for best dz?

A
  1. EOG - to Dx. Abnormal EOG
  2. ERG - will be normal
  3. Mac OCT - standard of care - will show lipofuscin accumulation in the RPE at fovea.
27
Q

tx/managment for best dz?

A

No tx unless CNVM present:
* Anti-VEGF – Subfoveal.
* Laser photocoagulation – outside of the fovea.

Provide Amsler grid for self-check and RTC if any changes.

F/U – yearly exam or prn

28
Q

what is progressive cone dystrophy?

A

progressive condition that only impacts the PR layer (predom the cones).

29
Q

onset of cone dystrophy?

A

between age 20-40

30
Q

symtpoms for cone dystrophy?

A
  • Slowly progressive bilateral decrease in central vision
  • Sever photophobia
  • Sever color vision loss
  • 20/400 by the 4th decade
31
Q

signs of cone dystrophy?

A
  • Early - normal fundus but abnormal cone function on ERG.
  • OCT - PR layer missing.
  • Late - central geographic atrophy with bull’s eye maculopathy.
  • Vessel attenuation
  • Deutan-tritan color defects
32
Q

w/u for cone dystrophy?

A
  • ERG - abnromal cone function
  • mac OCT - missing PR layer
    *
33
Q

tx/mangement for cone dystophy?

A

No tx but mangement aimed to manage symptoms of photophobia:
* sunglasses or tinted CLs
F/U: 1 year

34
Q

what is gyrate atrophy? what causes it?

A
  • Bilateral chorioretinal degeneration due to a deficiency in the mitochondrial enzyme ornithine aminotransferase
35
Q

what inheritance is gyrate atrophy?

A

AR

36
Q

what is the onset of gyrate atrophy?

A

at the age of 10

37
Q

deficiency in the mitochondrial enzyme ornithine aminotransferase leads to elevated levels of…

A

10-20x levels of ornithine in urine and blood

38
Q

symptoms of gyrate atrophy?

A
  • Nyctalopia
  • Decreased vision.
  • Constricted VF
39
Q

signs of gyrate atrophy?

A
  • Multiple, well-defined, scalloped areas of peripheral chorioretinal atrophy 360.
  • Macula is spared until 4th – 7th decade.
  • PSC
40
Q

tx/managment for gyrate atrophy?

A
  • restricted argine and protein in pt’s diet - prevents ornithine formation.
  • vitamin B6 supplement
41
Q

what is familial drusen?

A

retinal dystrophy characterized by early onset of macular and peripapillary drusen.

42
Q

what inheritance pattern is familial dominant drusen?

A

AD

43
Q

onset of familial dominant drusen?

A

before the age of 20.

44
Q

symptoms of familial dominant drusen?

A
  • asymptomatic or mild vision loss.
  • when 40-50 y/o - pt might complain of significant vision loss.
45
Q

signs of familial drusen?

A
  • Mild cases: depicted by harmless, small, hard drusen located in the macular region.
  • Moderate cases: characterized by multiple, large, soft drusen distributed throughout the entire posterior pole and the peripapillary region; this may occur after the 3rd decade.
  • drusen may coalesce and form honeycomb appearance eventually turning to geographic atrophy.
  • possible CNVM
46
Q

tx for familial dominant drusen?

A

No tx unless CNVM present –
* Anti-VEGF – Subfoveal.
* Laser photocoagulation – outside of the fovea.

47
Q

what is leber’s congenital amaurosis?

Hint: it is not the same as leber hereditary optic neuropathy.

A

it is a progressive AR rod-cone dystrophy

48
Q

leber’s conenital amaurosis is the most common congenital cause of blindness in ___?

A

children

49
Q

what 3 layers of the retina are loss in leber’s congenital amaurosis?

A
  1. PR
  2. Outer segments
  3. Outer nuclear layer
50
Q

what are symptoms of lebers congenital amaurosis?

A
  • roving eye w/in the first few months of life.
  • blur vision
  • color perception
  • nyctalopia
  • photophobia
51
Q

signs of leber’s congenital amaurosis?

A
  • reduced VA (20/40 - NLP)
  • attenuated vessels
  • chorioretinal atrophy
  • pigmentary retinopathy
  • yellow flecks
  • nystagmus
  • high hyperopia
  • KCN
  • keratoglobus
  • PSC
51
Q

tx for lebers cong amaurosis?

A
  • no tx
  • refer to low vision specialist
51
Q

what is von hippel-lindau disease?

A

it is a genetic disorder in which non-cancerous tumors grow in multiple organs (parts of the body).

51
Q

what are hemangioblastomas (aka capillary hemangiomas)?

A

benign tumors that arise from blood vessels which are secreting VEGF.

51
Q

in what organs do hemangioblastomas form in von-hippel lindau dz?

A
  1. CNS (brain, spinal sord, cerebellum)
  2. retina
51
Q

what inheritance pattern is von-hippel lindau disease?

A

AD

51
Q

what are symptoms of von-hippel lindau Dz?

A
  • asymptomatic or blurry visoin worse than 20/100 in affected eye
51
Q

what are systemic signs of VHL Dz?

A
  • CNS hemangiomas
52
Q

tx for VHL Dz?

A
  • No tx if asymptomatic - just observed.
  • symptomatic - cryotherapy, PRP, argon laser, radiotherapy, surgical excision - to removed or minimize tumor.
52
Q

what retinal condition are pts at risk with VHL dz?

A

Retinal detachment

52
Q

what are ocular signs of VHL Dz?

A
  • retinal capillary hemangioma - appears as an orange-red glob (ballooning) with a feeder vessel often located ST quad of peripheral retina. –> BV may leak exudates and blood.
  • possible ERM
  • retinal holes
  • retinal detachment
  • macular edema

RETINA ANAMOLIES DX/WU/TX (11 decks)

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