Vision Flashcards
outermost layer of eye?
cornea
followed by pupil then lens
center of the retina = ?
fovea –> resp for sharp central vision
what makes up anterior segment?
cornea, lens, iris
What makes up the posterior segment?
vitreous, retina, choroid, optic nerve
What is anophthalmia?
absence of globe
What is coloboma?
absent tissue bc embryonic fissure FAILED to close
can affect ANT or POST segments
What are chromo abnorm assoc w anophthalmia, microphthalmia, and coloboma?
- 4p syndrome (Wolf-HIrsh)
- Tri 18
- Tri 21
What are single gene syn assoc w anophthalmia, microphthalmia, and coloboma?
- Lenz microphthalmia & oculofaciocardiodental syndrome (BCOR)
- CHARGE syndrome (CDH7)
- PAX6-gene disorders; SOX2, OTX
What are non-syndromic cases assoc w anophthalmia, microphthalmia, and coloboma?
- RAX and VSX2 genes
What is aphakia?
absent lens
(you PHAK if you ain’t bringing your lens)
What can cause the anterior segment condition or aniridia?
aniridia (absent iris)
- isolated
- WAGR (Wilms, Aniridia, Genitourinary anom, Mental re) 11p13del (inc WT and PAX6)
- Gillespie syndrome (ITPR1)
Axenfeld Rieger syndrome affects what?
(PITX2, FOXC1)
microcornea
abnormal cornea
iris abnormalities
glaucoma
Glaucoma = group of disease that ?
inv damage of the optic nerve
Glaucoma = assos w ?
and secondary to ?
Assoc w elevated intraocular pressure
Secondary to anterior segment malformation
2 genetic causes of congenital glaucoma
CYP1B1, LTBP2
(Fetty Wap)
Genetic cause of Juvenile glaucoma
MYOC
What is a congenital cataract?
opacification of the lens (from birth)
What are some chromo abnorm assoc w cataracts?
Tri13
Tri18
Tri21
5p del (Cri du chat)
18p del
18q del
What are some syndromes assoc w cataracts?
- Lowe
- Alport
- SLO
- Stickler
- Zellweger
- Myotonic dystrophy
- Cockayne
- IP
- Ichtyosis
What eye abnorm can we see in USH2A?
Usher Synd IIA —> retinitis pigmentosa
(also assoc w sensorineural hearing loss or isolated ret pig)
How could a patient describe onset of ret pig?
- cannot see at night
- tunnel vision (constricted visual fields)
- then losing vision in the day (central vis acuity)
progressive, bilat, symm
What is the cause of Stargardt disease?
ABCA4
(AR)
you are a STAR if you know your ABCs
What eye abnorma is assoc w Stargardt disease?
(ABC4A; AR)
macular dystrophy —> we can see mult yellow flakes in the retina w a central area of atrophy
What is the cause of Best disease?
BEST1 haha
is the the BEST1 bc it is non-syndromic
What eye abnorm is assoc w Best disease?
macular dystrophy —-> yellow central macula that looks like a yolk
(BEST1; AD)
What eye abnorm can we see in oculocutaneous albinism?
- foveal dystrophy –> foveal hypoplasia
- retina = hypopigmented
- nystagmus
- strabismus
- photophobia
- sometimes misrouting of optic nerve
What eye abnorm do we see in Choroideremia?
(CHM, X-linked)
- choroidopathy —> prog central vision los bc fluid buildup behind retina
How is choroidopathy similar to RP?
- they both involve loss of night vision
- and decreased periph vision
What are some high risk genes for age-related macular degeneration?
(this is multifact)
- CFH
- ARMS2
- HTRA1
What is a common way to test visual acuity?
that eye chart w that chunges E on top
20/200 = legal blindness
What is an imaging technique to see cross-sectional retinal imaging?
Optical coherence tomography (OCT)
the resolution is swag, and it helps a lot w clinical dx of retinal diseases
What is the technique for gene therapy (like how do you insert the vector)?
you jsut insert it right into the eye! So you put the normal DNA into a virus/vector, then IV injection into the cavity of the eye
or subretinal injection under the retina
What was the first FDA approved gene therapy?
LUXTURNA AAV2-RPE65 for retinal dystrophy
vector AAV = Adeno-associated virus
Can we see eye abnorm w NF1?
so we assoc eye stuff more w NFII, but yes we can see stuff in NF1:
- optic nerve glioma can impact visual fibers
What eye abnorm can we see in Williams syndrome?
(most = blue eyed + farsighted)
strabismus common
vision = usu normal though
What main organ systems does Lowe syndrome affect?
- eyes —> cataracts + glaucoma
- brain
- kidneys
(OCRL; X-linked)
