Optic Neuropathies II

Question 1

Disorders of fetal vasculature

Answer 1

Benign disorders

• peripapillary loops
• bermeisters papilla
• congential macrovessels
• congential tortuosity

Detrimental disorders

• PHPV
• AV malformation (Wyburn mason)
• cap hemangioma (VHL)

Question 2

Peripapillary loops (PPL)

Answer 2

• benign
• rare
• most PPL arise from the arterial supply

Complications

• may predispose CRAO and vitreous hemorrhage
• thick blood disorders and emboli may cause insult due to the twisting and kinking of the loops
• in some cases, the vitreous is attached to the tissue surrounding the loop and it becomes a source of vitreous traction

Question 3

Bergmeisters papilla

Answer 3

Benign

• arises as a result of incompletely regression of the primary vitreous
• consists of primitive epithelioid cells, glia, fibrous remnant tissue which supported the hyaloid artery system
• solid white mass or veil of varying size and density extending in to the vitreous cavity from the nerve head

Question 4

Congential retinal macrovessels

Answer 4

• benign
• congential macrovessels are normally formed vessels that develop preferentially around the macula
• visual acuity is normal and the vessels remain competent throughout life
• not known why

Question 5

Congenital tortuosity of retinal vessles

Answer 5

• frequently seen in small hyperopic discs and with developmental disorders including tilted discs and ROP
• bilateral and tends to affect the arteries and veins
• most cases are idiopathic

Question 6

Familial retinal arteriolar tortuosity (FRAT)

Answer 6

Characterized by marked tortuosity of second and third order retinal arteries and venous system (the venous column is not involved)

Veins usually not invovled

Question 7

PHPV

Answer 7

-pathologic entities resulting from abnormal persistence of the fetal fibrovascular primitive stroma i.e. hyaloid system of the eye, which should disappear by the time of birth

Complications
-persistence and hypertrophy of these vessels can result in PHPV in the anterior and/or posterior chambers. It can give rise to leukocoria, RD, and subretinal hemorrhage

Question 8

Spectrum of anteiror PHPV

Answer 8

• cataracts
• mittendorf dot
• retrolental fibrous membranes and stalks
• ciliary body disruption
• microcornea

Question 9

Spectrum of posterior PHPV

Answer 9

Bergmesites 
Vitreoretinal veils 
Persistent fibrous stalks from the posterior lens o the ONH
Vitreoretinal traction
Retinoschisis 
RD
Macular ectopia

Question 10

AVM

Answer 10

• failure to develop cap networks between arterial and venous circulations
• WM sybndtome is an AVM with cutaneous and intracranial abnormalities
• looks like a bag of intestines

Complications

• mild forms are typically stable
• moderate to severe forms may leak

Question 11

WM syndrome consists of

Answer 11

Retinal AVM associated with cutaneous or intracranial vascular proliferation’s

Question 12

Cap hemangioma

Answer 12

Vasoproliferative tumor
Egg shaped lesion
VHL disease includes ocular and intracranial findgins

Question 13

Useful clue to Dx cap hemangioma

Answer 13

Exudates around the disc are a useful clue to diagnose cap hemangioma

Question 14

Inherited optic atrophy types

Answer 14

• primary hereditary optic atrophy: specific defect directly results in axonal atrophy . Lebers, dominant optic atrophy
• secondary hereditary optic atrophy: optic atrophy is linked t ocausal genes which alter other bodily processes which in turn affect the retina and the ONH. Wolframs syndrome, also called DIDMOAD

Question 15

Pathophysiology of inherited optic atrophy

Answer 15

• most of the heritable optic atrophied occur due to defects in nuclear DNA
• lebers occurs due to defects in mitochondrial DNA
• compromised mitchdonriral function can result from defects in mitochondrial and or nuclear genome

Question 16

Domaintnt optic atrophy (DOA)

Answer 16

• first decade of life (4-5)
• slow visual decline and stable around 50
• dominant inheritcen
• OPA-1 gene mutation leads to defective mitochrdrian in RGC
• thinning of the RNFL and atrophy of the disc

Question 17

DOA presentation

Answer 17

Bialteral and symmetric

• 20/20-20/200
• varying extend of atrophy and excavation
• classic CV/VF defect
• blue dyschromatopsia
• scotomas
• mixed VF defects are actually more common

Question 18

Management of DOA

Answer 18

Low vision aids

Genetic counseling

Question 19

Dominant optic atrophy plus

Answer 19

Additional defects compared to pure DOA. Hearing problem, muscle problem, and neuropathies
-eventually progressive external ophthalmoplegia (CPEO)

Question 20

Lebers hereditary optic neuropathy (LHON)

Answer 20

• 10-40 onset age
• bialteral and asymmetrical presentation
• transmitted maternally mtDNA
• no father-son transmission
• males affected 4:1 over females
• wide range of phenotypic expression due to heteroplasmy and homoplasmy of mtDNA

Question 21

LHON plus disease

Answer 21

Involves MS like whit matter lesions in the brain

Question 22

Presentation of LHON

Answer 22

• painless VA loss in one eye
• fellow eye in a couple weeks to a year
• pseudodisc edema, hyperemia, and telangectatic vessels are present at onset
• loss of visual function is typically permanent
• spared pupil function

Question 23

Manamgntof of LHON

Answer 23

No treatment

Genetic counseling

Question 24

Typical finding for LHON

Answer 24

Pseudodisc edema

Question 25

Difference between LHON and foster Kennedy syndrome

Answer 25

- LHON mimics FKS in which one eye shows optic atrophy and the fellow eye shows disc edema - LHON may be easily differnt is Ted from FKS when central VF defects are present OU In FKS a frontal lobe tumor compresses the ONH leading to atrophy. The tumor also causes raised ICP which leads to disc edema in the fellow eye - FKS usually does not show vision loss in the eye not compressed by the tumor - LHON does not leak dye on FA

Question 26

Neoplasms of ON

Answer 26

``` Glioma Meningioma Cap hemangioma Astrocytic hamartoma Melanocytoma ```

Question 27

Optic nerve glioma

Answer 27

- childhood onset - benign - if in adult age, its more aggressive and usually fatal - neoplasm arising out of ON glial tissue

Question 28

Presentation of optic nerve glioma

Answer 28

Blurry vision, disc pallor, APD Late -pallor, optociliary shunts, strab, proptosis Complications: NICRVO, ICRVO 9iris rubeosis, NVG)

Question 29

Managment of optic nerve neoplasms

Answer 29

Observe in kids | Surgery if tumor grow intracrnaially

Question 30

The best clue for optic nerve glioma

Answer 30

Proptosis eye and muscel restciton

Question 31

Optic nerve sheath meningioma

Answer 31

Middle age More in women Usually benign -neoplasms arising out meningiothelial cp cells of the ON sheath

Question 32

Optic nerve sheath meningioma

Answer 32

Proliferation of meningothelial cells within the nerve sheath of the orbital intracanalicular portion of the optic nerve

Question 33

Nerve sheath meningioma cause

Answer 33

Less rapid deterioration of vision than do gliomas as the tumor grows around the nerve and slowly compresses it

Question 34

Vision and optic nerve sheath meningioma

Answer 34

In early stages it is still pretty good unless it compresses the ON

Question 35

Optociliary shunt

Answer 35

Can be seen in optic nerve sheath meningioma

Question 36

Childhood gliomas

Answer 36

Rarely malignant whereas adult gliomas are almost always fatal

Question 37

Meningioma and benign gliomas are observed how often

Answer 37

3-6m F/U

Question 38

Melanocytoma optic nerve

Answer 38

Interdigitates with the NFL at the optic nerve | -nothing we can do, definite referral

Question 39

Astrocytic hamartoma

Answer 39

Assocaited with tuberous sclerosis or NF - right on the ONH - composed of astrocytes, calcium and other material

Question 40

Association of astrocytic hamartoma and systemic disease

Answer 40

Tuberous sclerosis

Question 41

Tuberous SLE Rossi

Answer 41

Rare multisystem genetic disease that causes benign tumors to grow int he brain and on other vital organs such as the kindest, heart, liver, eyes, lungs, and skin