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z Neuro-ophth - Cumulative Bitch > 4 - Optic Neuropathies > Flashcards

4 - Optic Neuropathies Flashcards

1
Q

Which division of nervous system does optic nerve belong to

A

CNS (only cranial nerve in CNS)

-cannot be regenerated if damaged

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2
Q

Where does myelination of the ON normally happen

A

Post lamina cribrosa

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3
Q

Congenital optic neuropathies
-congenital hypoplasia
—profile

A

Most common congenital defect***

Assoc with alcohol/drug use, infection, DM, pituitary/incracranial abnormalities

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4
Q 
Congenital optic neuropathies
-congenital hypoplasia
—pathophysiology: primary failure of \_\_
—gene 
—DM/DD ratio
A

Primary failure of RGCs

HESX1 gene - influences GC and midline brain structure development during 1st trimester

> 3.2***

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5
Q

DM/DD ratio

  • meaning
  • normal
  • examples of large and small
A

DM = distance to macula (center of mac to central edge of disc)

Normal 2.1-3.2

Large (>3.2) = congenital hypoplasia
Small (<2) = megalopapilla

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6
Q

Congenital optic neuropathies
-congenital hypoplasia
—presentation/signs (1 main, 4 other)

A

Double-ring sign*
-due to glial replacement tissue filling the gap b/w the scleral opening and small nerve*

Reduced VA, nystagmus, strab, variable VF defects (incl bitemporal)

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7
Q

Congenital optic neuropathies
-congenital hypoplasia
—disc appearance

A

Superior segmental/topless

  • SSONH - superior segmental optic nerve hypoplasia
  • inferior altitudinal defect (inf VF defect)
  • misdiagnosed as segmental AION
  • strong assoc with maternal DM
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8
Q

Congenital optic neuropathies
-congenital hypoplasia
—describe septo-optic dysplasia (aka de Morsier syndrome)

A

Midline dysgenesis resulting in loss of septum pellucidum

Pituitary abnormalities, disc hypoplasia, isolated venous tortuosity***

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9
Q

Congenital optic neuropathies
-congenital hypoplasia
—management

A

Young children w/ isolated venous totuosity - check for endocrine dysfunction

Bilateral w/ poor VA, nystagmus - refer to endocrinology for pituitary workup

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10
Q

Congenital optic neuropathies
-megalopapilla
—predilections
—pathophysiology

A

None

Large scleral foramen (vs normal in hypoplasia)
Excess of non-neural glial tissue -> invaginated into optic cup during development***

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11
Q

Congenital optic neuropathies
-megalopapilla
—presentation

A

Disc may app to have large CD

Vessels app small relative to disc size

DM/DD <2***

Blindspot enlarged
VA, VF, CV may be normal/minimally affected

Assoc peripapillary staphyloma

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12
Q

Congenital optic neuropathies
-megalopapilla
—management

A

R/O disc drusen, juvenile glaucoma, true disc edema, pseudo-edema

Observe

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13
Q

Congenital optic neuropathies

-myelination at disc (3 things)

A

Occurs shortly after birth

May produce depression in CF, blocking defects on FFA

Occurs in ~1% pop

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14
Q

Congenital optic neuropathies
-disc drusen
—profile/who (5)

A

1-2% pop

Rare in AA

75% bilateral

Usually not clinically apparent until early adulthood***

Irregular dominant transmission

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15
Q

Congenital optic neuropathies
-disc drusen
—pathophys (2)

A

Small scleral opening is primary cause***
-impaired axonal transport -> accum of mitochondria

From axoplasmic derivatives from disintegrated nerve fibers
-extruded mitochondria/debris are prone to calcification***

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16
Q

Congenital optic neuropathies
-disc drusen
—presentation (6)

A

Disc elevation

Deflection of vessels

Not true edema
-NFL not edematous

ILM wrinkled (stretch effect)

Lumpy bumpy app***

Venous stasis

17
Q

Congenital optic neuropathies
-disc drusen
—progression (4)

A

Rarely visible in children***

VF defects may present in childhood, progress over time

No consistent relationship b/w VF defect and location of visible drusen*
-variety of defects*

Disc hemorrhages may occur - compression/large stress around area

18
Q

Congenital optic neuropathies
-disc drusen
—complications (4)

A

Peripapillary hemorrhage, may extend toward macula***

Serous RD, CVNM assoc

Severe cases - aterial and venous shunt to/from choroidal circulation may develop***

Must differentiate from retrobulbar mass lesion

19
Q

Congenital optic neuropathies
-disc drusen
—diagnostics (4)

A

B-scan = most reliable***

OCT

Autofluoro

CT (not sensitive to small drusen)

20
Q

Congenital optic neuropathies
-disc drusen
—management (4)***

A

If no VF defect = annual exams (incl IOP, VF)

If VF defect = serial IOP, VF, OCT every 6mo

If IOP is borderline/progressive VF defect = consider ocular HTN tx

Treat peripap CNVM if occurs

21
Q

Congenital optic neuropathies
-closure defects of optic fetal fissure
—coloboma

  • systemic associations
  • pathogenesis
A

C in CHARGE syndromes
-also Gondenhar’s, craniofacial midline abnormalities, etc.

Incomplete closure of optic cup
AD and sporadic inher

22
Q

Congenital optic neuropathies
-closure defects of optic fetal fissure
—coloboma

-presentation (8)

A

Double disc app***

Staphyloma often assoc***

Maculoschisis, serous macular detachment, peripheral RD***

Uni/bilateral

Strab, decr VA (or normal), nystagmus

VF: BS enlargement, arcuate, ring scotoma

Carved out app usually inferior

Vessel abnorm

23
Q

Congenital optic neuropathies
-closure defects of optic fetal fissure
—morning glory disc

  • profile (4)
  • pathogenesis
A

Females, white
Uni > bilateral
No known inheritance
Some systemic assoc

Possibly varient of coloboma (less severe)

24
Q

Congenital optic neuropathies
-closure defects of optic fetal fissure
—morning glory disc

-presentation (3)

A

Often asymptomatic*
-25-75% risk of serous mac detachment*

Fundus: excavation (empty or filled), straightened vessels

Cerebral artery narrowing or thickening (on FAF)

25
Q

Congenital optic neuropathies
-closure defects of optic fetal fissure
—morning glory disc

-management (2)

A

Tx any detachments

MRI for intracranial abnorm

26
Q

Congenital optic neuropathies
-closure defects of optic fetal fissure
—morning glory disc vs colobomas (3)

A

MG: less often assoc with systemic disease

  • females, whites
  • funnel app and straight vessels
27
Q

Congenital optic neuropathies
-closure defects of optic fetal fissure
—optic pits

-profile (3)

A

Rare (1:11,000)
No gender predilection
Unilateral 90%

28
Q

Congenital optic neuropathies
-closure defects of optic fetal fissure
—optic pits

-pathogenesis (2)

A

Possibly varient of coloboma

Focal defects at level of lamina cribrosa***

29
Q

Congenital optic neuropathies
-closure defects of optic fetal fissure
—optic pits

-presentation (5)

A

VA typically normal***

Serous mac detach and/or maculoschisis in 30-50%, most often ages 20-40***

VF: enlarged BS, arcuate, altitudinal

Appearance

  • large disc
  • inferotemporally
  • 1/8-1/2 DD
  • covered in glial veil, varying pigmentation

Cilioretinal a in 60%

30
Q

Congenital optic neuropathies
-misaligned closure
—tilted disc

  • laterality
  • pathogenesis (2)
A

75% bilat

Mal-aligned closure of embryonic optic fetal fissure***

Abnormal axial length***

31
Q

Congenital optic neuropathies
-misaligned closure
—tilted disc

-presentation (4)

A

Oval to sliver app

One side elev, other dep

Variable effects on VA, VF, CV

Bilateral may give bitemporal defect

32
Q

Congenital optic neuropathies
-misaligned closure
—tilted disc

-associations (4)

A

Astig

Vascular aborm

Myelinated NFL

Myopia, pathological

33
Q

Congenital optic neuropathies
-misaligned closure
—tilted disc

-complications (2)

A

Serous mac detach, CNVM***

z Neuro-ophth - Cumulative Bitch (10 decks)

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