Hereditary Retinal Disease In Kids

Front 1

What are 5 conditions that can cause leukocoria?

Back 1

1- coloboma
2- coats Dz
3- myelinated nerve fibers
4- toxocari
5- RB

Front 2

90% of RB metastasize to the ________ and is fatal!

Back 2

bone marrow

Front 3

if RB is treated ___% of people survive.

Back 3

90%--- this is good!!

Front 4

What test can you order that would be helpful in diagonsing RB and ruling out coats, toxocari and PHPV?

Back 4

CT scan, due to the calcifications (the other 3 ddx dont have the calcifications)

Front 5

Describe trilateral RB

Back 5

1= 5-15% with germline RB
2= intracranial, neuroblastic tumor of the "third eye" the pineal gland
3- often fatal

Front 6

What are 5 conditions that can cause leukocoria?

Back 6

1- coloboma
2- coats Dz
3- myelinated nerve fibers
4- toxocari
5- RB

Front 7

90% of RB metastasize to the ________ and is fatal!

Back 7

bone marrow

Front 8

if RB is treated ___% of people survive.

Back 8

90%--- this is good!!

Front 9

What test can you order that would be helpful in diagonsing RB and ruling out coats, toxocari and PHPV?

Back 9

CT scan, due to the calcifications (the other 3 ddx dont have the calcifications)

Front 10

Describe trilateral RB

Back 10

1= 5-15% with germline RB
2= intracranial, neuroblastic tumor of the "third eye" the pineal gland
3- often fatal

Front 11

What are 5 conditions that can cause leukocoria?

Back 11

1- coloboma
2- coats Dz
3- myelinated nerve fibers
4- toxocari
5- RB

Front 12

90% of RB metastasize to the ________ and is fatal!

Back 12

bone marrow

Front 13

if RB is treated ___% of people survive.

Back 13

90%--- this is good!!

Front 14

What test can you order that would be helpful in diagonsing RB and ruling out coats, toxocari and PHPV?

Back 14

CT scan, due to the calcifications (the other 3 ddx dont have the calcifications)

Front 15

Describe trilateral RB

Back 15

1= 5-15% with germline RB
2= intracranial, neuroblastic tumor of the "third eye" the pineal gland
3- often fatal

Front 16

Would an MRI be helpful to rule out a RB?

Back 16

NO, an MRI can not show the calcifications, need a CT scan

Front 17

If the tumor is located _______, it means immediate enucleation. why?

Back 17

anterior chamber, it increases the risk for metastasis

Front 18

what is the gene for RB and what chromosome is it located on?

Back 18

RB1 on Chromosome 13

Front 19

Retinoblastoma is a ______ protein.

Back 19

tumor suppressor

Front 20

If you seen bilateral RB or multiple lesions, the mutation occurs where?

Back 20

in the germline ( a spontaneous mutation is usually unilateral

Front 21

If you have a germline mutation RB, you have a _% chance of getting another malignancy during the first 10 years, during 30 years?

Back 21

5%, 35%

Front 22

T or F: receiving radiation treatment for RB increases your risk of getting another malignancy.

Back 22

true

Front 23

What is the most common "other" tumor after RB?

Back 23

osteogenic sarcoma of the femur

Front 24

What are 4 risk factors for metastasis?

Back 24

1- invasion beyond the lamina cribrosa (exothetic)
2- >2mm invasion of choroid
3- orbital extension
4- A/C involvment

Front 25

What are 3 diseases that cause severe vision reduction in babies?

Back 25

1- LCA
2- albinism
3- achromatopsia

Front 26

Will an infant's fundus with LCA look normal?

Back 26

yes..over time the vessels become attenuated, maybe disk swelling, optic atrophy, and bone spicules (sounds like RP)

Front 27

Your infant patient seems to have reduced vision, has slugglish pupils, marked photophobia and searching nystagmus...what is a good guess as to what he/she has?

Back 27

LCA

Front 28

LCA babies have the digitocular sign....this could lead to ___.

Back 28

K'conus

Front 29

IS there genetic treatment for LCA? if so, what is the gene.

Back 29

Yes, RPE65....this has something to do with vit A

Front 30

What test must you run to confirm diagnosis of LCA?

Back 30

and ERG....will be flat

Front 31

your patient,in addition to having all of the S&S of LCA has a small central scotoma and cant discrimnate colors at all......what is this condition?

Back 31

1- achromatopsia

Front 32

Paradoxical pupils are seen in what condition?

Back 32

achromatopsia.... constrict in the dark

Front 33

with achromatopsia, what will the ERG look like?

Back 33

no cone activity

Front 34

What is the most common inherited macular dystrophy?

Back 34

stargardts

Front 35

I am 22. suddenly in both eyes I have a central scotoma. my color vision has gone wack and my macula looks weird....i have......

Back 35

stargardts

Front 36

If i have the macular form of stargardts, will my visual prognosis be better or worse than if I had the non-macular form?

Back 36

better, weird huh?

Front 37

I have stargardts and mid-peripheral flecks....my vision is probably _____. (good or bad)

Back 37

VERY bad

Front 38

THe EOG is the standard test for what eye disease (hint: AD inheritance)

Back 38

Best's vitelliform dystrophy

Front 39

Stage 2 in Best's vitelliform dystrophy looks like ______ due to the accumulation of lipsfuscin beneathe the RPE. VA is about 20/20 to 20/50

Back 39

an egg yolk

Front 40

Stage 3 of Best's vitelliform dystrophy looks like _______ b/c the RPE breaks and the lipofuscin leaks into the sub retinal space. What age does this normall occur in?

Back 40

psuedohypopyon. in the teenage years

Front 41

Stage 4 of Best's Vitelliform dystrophy looks like ______. Will VA change?

Back 41

scrambled eggs, VA will decrease to about 20/100

Front 42

Stage 5 of Best's vitelliform dystrophy looks like _______. VA is ___.

Back 42

scars and pigment deposition. va = 20/200

Front 43

What simple test must you give to your Best's patients.

Back 43

Amsler grid