The Patient witThe Patient witLocalization of NDisease and Sel

Neuropatholo

St A KSteven A. KanThe Edward S. Har

th Visual Loss:th Visual Loss: Neuropathologic p gect Diseases of ogic Interest

M D Ph De, M.D., Ph.D.rkness Eye Institute

Shared em • Eye and bdevelop fr

mbryologydevelop frneuro-ect

• Their funcand respoand respoto diseaserelatedrelated

• Blood• Blood ocular/brabarriersbarriers

• The eye is• The eye iswindow inbrain and

Localizacharacterizatiocharacterizatio

visvis

• Pattern of visual loPattern of visual lolesion site

• Disease course ant lsymptoms may cla

ation and on of impairedon of impaired ionion

oss may identify theoss may identify the

nd accompanying if it tarify its nature

Assessment ovisual function• Central vision

• Acuity

• Color vision

• Peripheral vision

• Visual fi ld / i tfields/perimetry

• O l t t

of n

Perimeetryy

Ocular aanatomy

• Unique examof structure supporting function

• Optics

• Neuro-transduction

• Neuro-transmission

yBruckneer reflex

cataaract

Retinobla• Most common

i t l liintraocular malignancy in childhood

• Leukocoria and t bistrabismus

• 13 14 t ti• 13 q14 mutation

•• Direct spread

•• Localized chemotherapy

astoma

Normal ocuular fundus

• Optic discp

• Retinal vess

• Transparentpretina

• Macula

• Retinal pigmepitheliumepithelium

• Choroid

Retinal nervanatanat

ve fiber layer tomytomy

• Axons of the optic nerve

• Papillomacular bundle

• Branching axonsgrespect the horizontal raphep

Symptoms anddnerve d

• Blurred visionBlurred vision

• Dimming of vision wDimming of vision wperception

• Decreased pupillar

• Centrocecal and a

d signs of optic didisease

with decreased colorwith decreased color

ry response to light

rcuate scotomata

yTB

Centrocecaal scotomas

Bilateral opwith centwith cent

scotoscoto• H dit (d i• Hereditary (dominan

• T i ( di ti• Toxic (medications, metals)

• Nutritional (folate, B

• Demyelinating (opticsclerosis)

ptic atrophy trocoecaltrocoecal omaomat L b ’ )nt, Leber’s)

th l hmethanol, heavy

12)

c neuritis, multiple

yacuity and h

pres

gigh right eye sure

Glauc• Common usually bilaCommon, usually bila

optic neuropathy

• Initial selective damagsparing of papillomacloss

comaateral often asymmetricateral, often asymmetric

ge to branching axons wular bundle = arcuate fie

Unilateral odisordisor

• Ischemic (anteriorIschemic (anterior neuropathy, retinal

• Compressive (orbit

• Inflammatory (demrheumatologic)

optic nerve rdersrders

ischemic opticischemic optic l occlusive disease)

tal, anterior fossa)

myelinating, infectious,

Sudden painlewith pallid dp

ess visual lossisc swellingg

• Patients usually > 50Ischemic optic

• Sudden, usually stable visual loss

• Altitudinal scotoma

• Optic atrophy in 4-6 wk

• Causes

• Idiopathic p(anatomic)

c neuropathy

ant cell arteritimporal arteritis• An ophthalmicmporal arteritis• An ophthalmic

emergency

• Senior citizens

• Subacute, granulomatousgranulomatous, stenosing arterial diseasedisease

• Headache, amaurosisHeadache, amaurosis fugax, arthralgia, myalgia, weight lossy g , g

• Brain, cardiac, eye, skin,

ss)s)

Compressneuroneuro

• Insidious visual loss

• Affects acuity, color, peripheral visionperipheral vision

• Gradual optic atrophy• Gradual optic atrophy

sive optic opathyopathy

Subacute VChildhoodChildhood

Visual LossAdultAdult

Inflammaneuro

• Children and younger

neuroChildren and younger adults

• Centrocecal, arcuate, and hemianopicand hemianopic scotomas

• Subacute, often pain with eye movementswith eye movements

• Retrobulbar neuritis or• Retrobulbar neuritis or papillitis

tory optic opathyopathy

Obese 12 yeblurred vision ablurred vision a

ears old with and headacheand headache

Papille• versus other disc

swellingswelling

• Intracranial massIntracranial mass

• Pseudotumor cerebriPseudotumor cerebri

• HydrocephalusHydrocephalus

• Intracranial hemorrhageIntracranial hemorrhage

• Venous thrombosisVenous thrombosis

• Meningitis

edema

anattomy

• Usually compressiveLesions of

• Pediatric

• Hypothalamic glioma

• Craniopharyngioma

• Adult

• Pituitary adenoma

• Meningioma

• Craniopharyngioma

the chiasm

Retrochiasm• Hemianopic scotoma

• Grossly incongruous field defects

• Small afferent defect

• Children: neoplasm > vascular > trauma

• Adults: vascular > neoplasm > trauma

mal lesions

manifestationdisea• 10 year old unable10 year old unable

year of upper and lkweakness

• Slurred speech andE ti ll l bilEmotionally labile,

• Ataxia, Babinski repalpable liver slowpalpable liver, slowblepharospasm

pns of systemic asesto walk because of 1to walk because of 1

lower extremity

d drooling for 3 years, h t ihypertonic

flex, intention tremor, wed saccadeswed saccades,

p gmcg/dl

, pp

Cherry reTay Sachs & Sandoff’s

Niemann Pick type A

Metachromatic leukodystrophyleukodystrophy

SialidosisSialidosis

Farber diseaseFarber disease

C t l ti l tCentral retinal artery obstruction

ed spots

Retinal deg“retinitis pigretinitis pig

Photoreceptor and/or etinal pigmentetinal pigment

epithelium disturbance

Pigment released from damaged RPE cellsdamaged RPE cells clumps or migrates nto the retinanto the retina

Many causesMany causes

generationgmentosa”gmentosa

Diseases wdegene• Mucopolysacchariddegene

ucopo ysacc a dRefsum,

• Neuronal ceroid lipti icystinuria

• Ab t li t i• Abetalipoproteinem

• H ll d S t• Hallervorden Spatzataxias

• Usher, Cockayne

with retinal erationdoses, Gaucher’s, erationdoses, Gauc e s,

pofuscinosis,

i K Smia, Kearns-Sayre

S i b llz, Spinocerebellar

diseases atro

• Krabbe, Metachrom,

• Adrenoleukodystroy

• Spinocerebellar atap

• Friedreich’s ataxia

• Pelizaeus-Merzbac

with optic pophy

matic leukodystrophy

p yy p y

ophy, Alexanderp y,

axia type Iyp

, Canavan’s, , ,

cher, Alper’s, p