optic neuropathy part 2...optic neuropathy part 2: ischemic, compressive, hereditary karl c. golnik,...

Optic Neuropathy Part 2:Ischemic, Compressive, Hereditary

Karl C. Golnik, MD

Professor & ChairmanDepartment of Ophthalmology

University of Cincinnati & The Cincinnati Eye Institute

Objectives

1. Differentiate different forms of ischemic optic neuropathy.

2. Identify presenting signs and symptoms of compressive optic neuropathy.

3. Describe at least 2 forms of hereditary optic neuropathy.

Differential Diagnosis of Optic NeuropathyInflammation• Typical optic neuritis (idiopathic,

demyelinating)• Atypical Optic Neuritis

(perineuritis, neuromyeltis optica, sarcoid, autoimmune (AON), chronic relapsing inflammatory (CRION), other systemic (SLE, Wegeners)

Infection• Syphilis, Lyme, Bartonella, TB, HZV,

CMV, sinusitis

Hereditary – Leber, Dominant

Ischemia• NAION• AAION• Hypoperfusion (anemia, blood

loss, hypotension, DM)

Infiltration• Lymphoma, Leukemia, other

Compression• Tumor, Graves

MiscellaneousNutritional, Toxic

Differential Diagnosis of Optic NeuropathyInflammation• Typical optic neuritis (idiopathic,

demyelinating)• Atypical Optic Neuritis

(perineuritis, neuromyeltis optica, sarcoid, autoimmune (AON), chronic relapsing inflammatory (CRION), other systemic (SLE, Wegeners)

Infection• Syphilis, Lyme, Bartonella, TB, HZV,

CMV, sinusitis

Hereditary – Leber, Dominant

Ischemia• NAION• AAION• Hypoperfusion (anemia, blood

loss, hypotension, DM)

Infiltration• Lymphoma, Leukemia, other

Compression• Tumor, Graves

MiscellaneousNutritional, Toxic

68-yo-WM c/o blurred vision OD x 1 week.

Exam: VA-20/60 (6/18) OD, +R-RAPD

Most likely diagnosis?

1. Ischemic2. Compressive3. Nutritional4. Hereditary5. Inflammatory

AIONAnteriorIschemic Optic Neuropathy

Blood supply problem to optic disc causes sudden, painless, visual loss

Diffuse Sectoral

Normal disc below

Non-Arteritic AION (NAION)Age, HTN, DM, cholesterol

Disc-at-Risk

Sleep apnea

Nocturnal Hypotension?

Not carotid stenosis

15% sequential (5yrs)50% no change43% improve (some)

7% worsen

cup to big

Giant Cell (Temporal) Arteritis

Always need to consider & ask the right questions:

jaw claudication, scalp tenderness, HA, fatigue

Check ESR, CRP, CBC/platelets

pallid swelling suspicious

Arteritic (AAION) vs. Non-Arteritic (NAION)

AION - CausesSildenafil (Viagra)?

Pomeranz et al. J Neuro-Ophthalmol 2005; 25:9-13.

• 7 patients from 1999-2003 at 1 institution• men, age 50-69• onset within 36 hrs• all had hypertension, dm, hypercholesterolemia• 4/7 disc-at-risk, 3/7 not specified

• 7 other previously reported men, age 48-62• onset within 12 hrs, 5/7 with risk factors• 3/7 disc-at-risk, 4/7 not specified

Amiodarone or NAION?

• same risk factors as NAION• 1.3-1.8% optic neuropathy vs 0.3% NAION• $23,000,000 awarded (1997)

Treatment• stop or reduce dose (half-life 100 days!)

AION - MimicAmiodarone?

(Cordone, Pacerone)

From: Chen D, Hedges DR. Sem Ophthalmol 2003;18:169-73. Based on review of 73 patients.

Posterior Ischemic Optic Neuropathy (PION)

• relatively rare• severe vasculopath• post dialysis most common• usually need imaging

Perioperative Visual Loss• 41-yo-WM injured in MVA. 10 hr low

back surgery done to relieve spinal cord compression.

• VA: NLP OU• Amaurotic pupils• Exam otherwise normal PION

Perioperative Visual Loss• 26-yo-WM underwent low back surgery.

Procedure was uncomplicated but took 9 hrs. Required several units PRBC. Blood pressure kept 90/50-60.

• VA: 20/20• L RAPD

Ischemic Optic Neuropathy• Most common cause of periop visual loss• 1/60,965 (0.0016%) all anesthetics• 1/1000 spine surgeries• Often bilateral blindness• Medical-legal issues

Perioperative Visual Loss• case-control study:

• Only spine procedures• ION cases predominated• No difference in Hct or BP• Longer procedures• Greater blood loss

Myers MA, et al. Visual loss as a complication of spine surgery: a review of 37 cases. Spine 1997;22:1325-1329

Perioperative Visual Loss

Proposed Factors• Hypotension or relative hypotension• Blood loss• Anemia• Hypoxia • Duration

Perioperative Visual Loss

Proposed factors:• Hemodilution• Large crystalloid administration• Hypovolemia• Use of vasopressors• Venous congestion• Head position• Ocular compression

Practice Advisory for Perioperative Visual Loss

• Etiology incompletely understood• Likely multifactorial• “High-risk patient”

• Prolonged prone spine surgery+/- substantial blood loss

Anesthesiology 2006; 104:1319-28.

37-yo-WM c/o mild blurriness but notes visual loss left eye with L gaze.

ExamVA: 20/15, 20/20 HRR: 10/10, 4/10 P: L RAPDFundus: normal

Most likely diagnosis?

1. Ischemic2. Compressive3. Nutritional4. Hereditary5. Inflammatory

37-yo-WM c/o mild blurriness but notes visual loss left eye with L gaze.

ExamVA: 20/15, 20/20 HRR: 10/10, 4/10 P: L RAPDFundus: normal

Compressive Optic Neuropathy

Historical Points

• gradual visual loss (beware sudden awareness)

• usually painless

• associated symptoms - often none

Compressive Optic Neuropathy

Exam Characteristics

• signs of optic neuropathy (RAPD, visual loss)

• disc swelling if proximal compression

• choroidal folds

• optociliary collateral vessels

• orbital signs (proptosis, ophthalmoplegia, chemosis)

ExamThe usual: RAPD, visual loss, decreased color vision

Disc swelling may occur if compression is immediately behind globe. Most compressive optic neuropathies have

no disc swelling.

retrobulbar with disc swelling

Chorioretinal Folds

tumor Graves’papilledemaidiopathic

Retinal-Choroidal Collateralsold CRVOmeningiomaCOAGidiopathic

Orbital Signs

42-yo-WM c/o “vision getting better!”

ExamVA: 20/15 (cc -2.25), 20/20 (plano)HRR: 10/10, 7/10 P: L RAPDFundus:

Compressive Optic Neuropathy

Neuroimaging Pitfalls

1. No contrast given.

2. No fat suppression.

3. Scan only as good as the radiologist.

Compressive Optic Neuropathy

Neuroimaging Pitfalls

1st MRI 2nd MRI

DX: metastatic Ewing’s Sarcoma to optic canal

Compressive Optic Neuropathy

Neuroimaging Pitfalls

Dx: optic nerve sheath meningioma

with fat suppressionwithout fat suppression

22-yo-wm c/o blurry vision OD x 1 month.

VA: 20/200 (6/36) OD, HRR: 0/10 OD, 10/10 OS

P: R-RAPD

Most likely diagnosis?

1. Ischemic2. Compressive3. Nutritional4. Hereditary5. Inflammatory

Leber’s Hereditary ON

• Severe (<20/200), painless, initially monocular visual loss • Associated RAPD & central or cecocentral VFD• Degeneration of ganglion cell layer & ON

• Males 10-30 yrs old• May occur later (reported up to age 65)• Females account 10-20% cases

Leber’s Hereditary ON

• 2nd eye involved weeks-months• Rarely interval is longer (up to 8 yrs)

• Visual loss usually permanent, remaining <20/400• 10-20% cases report partial visual recovery

Fundus appearance

http://www.mcw.edu/FileLibrary/Groups/Neurology/mcnamara.jpg&imgrefurl=http://www.mcw.edu/neurology/research/LHON.htm&usg

Genetics

• Mitochondrial DNA mutation• 11778 position• Less commonly at 3460, 14484 locations

• 14484 mutations higher chance of late spontaneous improvement in VA (up to 65%)

• 11778 mutation have lower chance (~4%)

• Single base-pair nucleotide substitution results in impaired mitochondrial ATP production• Affects energy-dependent tissues (ON)• Can also affect heart, brain

Genetics

• Transmitted from mitochondrial DNA

No proven treatmentIdebenone???

Treatment

• No proven treatment with steroids, VB12, CN inhibitors

• Idebenone/Vitamin B2/Vitamin C • No difference in number of eyes overall with

visual recovery• Shortened the time for vision recovery• 11.1 months vs. placebo 17.4 months; p = 0.03

Usually detected in asymptomatic childrenMutation at OPA 1 and OPA 3 genes

Dominant Optic Atrophy

Retrobulbar Optic Neuropathy44-yo-wm c/o blurry vision OU x 1 month.

VA: 20/40 (6/12) OU

HRR: 2/10 OU

VF:

Most likely diagnosis?

1. Ischemic2. Compressive3. Nutritional4. Hereditary5. Inflammatory

Nutritional Optic Neuropathy(Tobacco-Alcohol Amblyopia)

• Gradual bilateral painless visual loss

• Typically in alcoholics who drink all their calories

• Central or Ceco-central scotomas

• Discs may be normal then atrophic

• Check vitamin B12, folic acid, rbc folate, B1, copper*

Retrobulbar Optic Neuropathy66-yo-wm c/o blurry vision OU x 1 month.

VA: 20/40 (6/12) OU, HRR: 2/10 OU

Retrobulbar Optic Neuropathy

20/100 OD, 20/80 OS

20/25 OU

Ethambutol

Summary• Ischemic optic neuropathy usually is sudden,

painless and disc is swollen (NAION).

• Posterior ischemic optic neuropathy is rare outside dialysis, hypotension, surgery.

• Compressive optic neuropathy often painless – get the correct imaging!

• Leber HON may mimic optic neuritis

• Nutritional/Toxic optic neuropathy should be suggested by good history.

Thank-you for your attention.