Ocular syndromes

Acute angle closure glaucoma

1) cornea: endothelial damage

2) iris: atrophy, PAS, and post synechia

3) lens: glaucomflecken, cataract

4) c.b.: hyposecretion

5) optic nerve: atrophy, no cupping

Aniridia

- AD: 2/3; sporadic: 1/3

- 1/60000

- chromosome 11

- VA < 20/200

- assoc: Wilm's, MR, GU abn.

- U/S or IVP every 3 months

Signs

1) cornea: pannus (epithelial metaplasia), keratoconus (Duanes’)

2) angle: angle closure glaucoma

3) iris: hypoplasia

4) lens: subluxation, cataract

5) retina: foveal hypoplasia

6) optic nerve: hypoplasia

7) neuro: nystagmus

8) EOM: strabismus

Anterior Segment dysgeneses

A) Post. embryotoxon

- AD

- anterior displaced Schwalbe’s line

B & C) Axenfeld-Rieger Syndrome

- new terminology

- AD (75%); 25% sporadic

- bilateral but asymmetric

B) Axenfeld Anomaly

i) Ocular

1) posterior embryotoxin

2) iris process to Shwalbies Lline

3) glaucoma (“Axenfelds’s syndrome”)

ii) Systemic

1) MSK abnormalities

C) Rieger's

i) Ocular

1) Axenfeld's

2) iris stroma defects

3) glaucoma (50%)

4) corectopia

5) ectropion uvea

6) PAS

7) pseudopolycoria

ii) Systemic (“Rieger’s syndrome”)

1) facial, skeletal, dental abnormalities

2) umbilical hernia and redundant skin

D) Peter’s

- AD, AR or sporadic

- bilateral: 80%

A) Ocular

1) loss of central Decemet’s and endothelium

2) +/- lens sticking to stroma

3) glaucoma (50%)

B) Systemic (“Peter’s plus” syndrome)

1) cardiac defects

2) cleft lip/palate

3) MSK defects

4) craniofacial anomalies

E) Von-Hippels internal ulcer

- Peter’s associated with intrauterine inflammation

- may see uveitis, KP’s, pannus after birth

F) circumscribed posterior keratoconus

- localized indentation of posterior cornea

- unilateral

- sporadic

Benign papillophlebitis

1) unilateral

2) normal field

3) normal acuity

4) like partial CRVO

5) peripheral retinal NFL heme

6) resolves on its own

7) young people

Best’s Disease

- AD

- EOG abnormal with normal ERG

- lipofuschin deposits

Stages:

1) RPE changes

2) yolk

3) scrambled or fried egg

4) pseudohypopion

5) atrophy

Blepharitis (Rosacea) - type IV response

A) Systemic

1) skin telangiectasias

2) rhinophyma

3) skin pustules

4) fair skinned

5) skin erythema

6) skin papules

7) hypertrophic sebaceous glands

8) malar rash

9) flushing with alcohol, coffee

B) Lid

1) m.g. plugging

2) debris (scurf)

3) lid thickening (tylosis)

4) chalazia

C) Ocular

1) conjunctivitis

2) corneal pannus

3) punctate epithelial erosions

4) dry eye

5) peripheral infiltrates (10:00, 2:00, 4:00, 8:00)

6) sterile ulcer

7) episcleritis

8) iritis

Blepharitis (Staph)

- F>M

A) Lid

1) poliosis, trichiasis, madaurosis

2) ant. blepharitis

3) collarettes

4) lid ulceration

5) lid thckening (tylosis)

B) Ocular

1) phlyctenules (rxn to staph cell wall Ag)

2) marginal infiltrates (spade-shape)

3) pannus

4) conjunctivitis

5) dry eye

Carotid-Cavernous fistula (CCF)

- head trauma: 75% (Young)

- spontaneous: 25% (old)

A) anterior segment

1) injected conjunctival and episcleral vessels (corkscrew)

2) elevated IOP

3) anterior segment ischemia in 20% (cells, flare, corneal edema, cataract, rubeosis)

B) Posterior segment

1) CRVO

2) ocular ishemic syndrome?

C) Orbit

1) pulsating proptosis

2) enlarged EOM’s

3) CN 6 palsy (compression in cav. sinus): 50%

4) CN 3, 4 palsy less common

8) bruit

Central Areolar Dystrophy

1) AD

2) symptoms start at 40-50

3) decreased ERG and EOG

Ciancia syndrome

1) large ET

2) cross fixate

3) nystagmus when fixing eye abducts

4) often undercorrected

5) need large recessions

CSNB

- 3 types: XL, AD, AR

1) vision 20/20 to 20/200

2) no nystagmus

3) poor nite vision

4) problem with on/off connections

Diabetes ocular findings (less known)

A) Ant segment

1) decreased corneal sensation

2) dry eye

3) corneal opacity

4) epithelial abnormalities

5) Descemet’s folds (“wrinkles”)

6) ectropion uvea

7) xanthelasma

B) Posterior segment

1) sheathing

2) Roth spots

3) macular dragging

4) diabetic papillopathy

5) lipemia retinalis (white vessels from fat)

6) c.b. b.m. thickening

7) choriocapillaris b.m. thickening

8) asteroid hyalosis

Ectopia lentis et pupillae - AR

1) large cornea

2). lens and pupil move opposite dir

3) cataract

4) iris transillumination

5) poor dilation

6) slit pupil

7) RD

8) high myopia

Esotropia (Infantile, congenital, essential)

1) deviation > 30 PD

2) FH common

3) DVD (75%)

4) latent nystagmus (50%) - horiz or rotat.

5) IOOA (70%)

6) amblyopia (50%)

7) cross-fixating

8) assymetric OKN’s

9) monocular smooth pursuit asymmetry

Esotropia (Accomodative)

1) onset 6 months - 7 years

2) usual 2 - 3 years

3) heraditary

4) hyperopes (+3 to +10; average = +4)

5) amblyopia

6) most common ET

7) ET moderate (20-30 PD)

8) near-distance difference < 10 PD

Exfoliation syndrome

1) peripupillary atrophy

2) deposits: lens, cornea, iris, conj, c.b., zonules, angle

3) increased pigment dispersion with dilation

4) weak zonules

5) may result in CACG as well as COAG

6) prevalence of glaucoma:7% and OHT 15% (Yanoff study)

7) normal response to steroids (25% vs 90% in COAG)

8) W > B

9) often unilateral

Fuch’s iridocyclitis

1) stellate KP’s

2) unilateral (usually)

3) minimal AC reaction

4) vitritis

5) heterocheomia

6) no synechia

7) cataract

8) glaucoma

Giant Papillary Conjunctivitis

1) CL intolerance

2) discharge

3) blurred vision

4) conj injection

5) papillae > 0.3 mm

6) bloody tears

7) ptosis

8) lens displaced

Goldman Favre - AR

1) cataracts

2) peripheral and foveal retinoschisis

3) RP-like changes

4) optic atrophy

Gyrate Atrophy - AR

- classic scalloped RPE lesions

1) myopia

2) cataract (PSCC)

3) night blindness at 10 y.o.

4) present to MD at 20-30 y.o.

5) decreased VA

6) decreased VF

7) extinguished ERG

8) ornithine levels increased 10 fold

9) B6, diet control

ICE syndromes

1) unlateral

2) F > M; W > B

3) epithelialization of endothelium (seen with specular microscopy)

4) PAS

5) corectopia

6) iris atrophy (greatest in progressive iris atrophy)

7) corneal edema (greatest in Chandler’s)

8) young age

Keratoconus

signs

1) Munson’s sign

2) Rizzuti’s sign

3) Fleisher ring

4) Vogt’s stria

5) breaks in Bowman’s

6) enlarged corneal nerves

7) hydrops

Lattice Dystrophy

1) AD

2) recurrence in graft: lattice > granular > macular

Leber’s Congenital Amaurosis

- AR

- 2-3 months of age when noticed

- absence of rods and cones

- oculodigital reflex

A) Ocular

1) cataracts

2) glaucoma

3) paradoxical pupils

4) RP-like changes

5) blond fundus

6) macular atrophy

7) vessel attenuation

8) pigmentary retinopathy

9) optic nerve pallor

10) sensory nystagmus

11) hyperopia

B) Systemic

1) renal anomalies

2) MSK anomalies

3) brain anomalies

Megalocornea

- XL (90% male)

A) Systemic Asociations

1) MR

2) craniosyntosis

3) Down’s

4) Alport’s

5) Marfan’s

6) short stature

7) frontal bossing

B) Ocular associations

1) 13-16 mm corneas

2) cataract

3) ectopia lentis

4) goniodysgenesis

5) microcoria

6) miosis

7) glaucoma

8) lipid arcus

Microcornea

- AD and AR

A) Systemic Associations

1) myotonic dystrophy

2) fetal alcohol

3) Ehlers Danlos

B) Ocular associations

1) PHPV !

2) cataracts

3) goniodysgenesis

4) ON hypoplasia

5) ACG

6) COAG

Monofixation (microtropia) Syndrome

A) Findings

1) ET less than 8 PD on cover-uncover

2) deviation may be > 10 PD on alternate cover

3) amblyopia (usually slight)

4) macular scotoma on binocular testing

5) poor stereopsis

6) central scotoma, peripheral fusion

7) ARC (extramacular)

8) normal cover/ uncover

9) usually abnormal 4 base out prism test

B) Causes

1) strabismus (corrected)

2) anisometropia

3) amblyopia

4) macular scar

Mooren’s ulcer

precipitating factors: surgery, trauma, or parasite

A) Limited Type

1) unilateral (75%)

2) older patients

3) M=F

4) slow course

5) mild pain

6) responds to treatment

B) Progressive Type

1) bilateral (75%)

2) young, black (nigerian)

3) males

4) rapidly progressive

5) severe pain

6) poor response to treatment

Nonarteritic AION

1) older

2) visual loss less severe

3) 2nd eye affected in 25%

4) hypertension and DM associated

5) 5-10% progress over 2-3 weeks

Oculomotor Apraxia

A) Findings

1) M > F

2) inability to generate horizontal saccades

3) vertical saccades normal

4) head thrust past target and then refixate

5) VOR impaired

6) OKN abnormal

7) congenital type may improve with age

B) Associations and Causes

1) idiopathic

2) corpus callosum agenesis

3) hydrocephalus

4) cerebellar lesion

5) bilateral lesions of frontoparietal cortex -need CT!

Optic pit

1) usually unilateral (85%)

2) serous RD (40%)

3) disc may be large

4) macular holes

5) retinal hemorrhages

6) presents age 20-40

7) FA leakege

8) theories on source of fluid:

i) vitreous (most likely)

ii) choriocapillaris

iii) CSF

iv) macular hole

perifoveal telangiectasias

I) unilateral parafoveal

- congenital and acquired

- males more often

- like local Coats’

- laser helps in type 1 only

II) bilateral parafoveal

- SRNV as complication

- most common

associations:

1) small, yellow lesions within the FAZ

2) right-angle retinal venules

3) stellate plaques of RPE hyperplasia

III) bilateral perifoveal with capillary obliteration

Pars Planitis sequelae

1) cataract

2) glaucoma

3) CME

4) RD

5) VH

6) NV

7) band

8) phthisis

9) disc edema

PHPV

(retrol. mass of fat, SM, collagen, cartil.)

1) microphthalmos, microcornea

2) cataract

3) angle closure glaucoma

4) usually unilateral

5) elongated ciliary processes

Pigment dispersion syndrome

1) M > F; W > B

2) young

3) myope

4) Krukenberg spindle

5) lens, angle, iris, zonule pigment deposits

6) midperipheral atrophic spokes

7) worse after exercise (dilation)

8) glaucoma develops in 33% (one third)

9) may be steroid responders (1 study yes, 1 no)

10) may be related to COAG (1 study yes, 1 no)

11) blinking causes increased IOP (pupil block?)

12) Tx: PI, pilo (usually not tolerated), IOP control, ALT

Plateau Iris

1) deep central AC

2) narrow angle

3) configuration: PI curative

4) syndrome: PI not curative

Posner Schlossman

1) recurrent

2) IOP 40-60

3) due to PG abnormality

4) ciliary flush

5) mild AC rxn

6) sluggish pupil

7) epithelial edema

8) flare and a few KP’s

10) no PAS

11) some have steroid response like COAG

12) Tx. steroids, NSAIDs (when to treat?)

Posterior Polymorphous Dystrophy

- AD or AR

1) broad bands with scalloped edge

2) gray geographic lesions

3) stromal edema

4) corectopia

5) iridocorneal adhesions

Posterior scleritis

1) pain

2) proptosis

3) visual loss

4) restricted EOM movements

5) lower lid retraction on upgaze

6) choroidal folds

7) exudative RD

8) papilledema

9) ACG

10) posterior uveitis (vitritis)

11) thickening on CT/MRI

12) sometimes associated TB or c.t. disease

Reis Buckller’s

- AD

1) areas of absent epith b.m

2) recurrent erosions

3) recurrence in graft

4) subepithelial honeycomb pattern

5) scarring

Retinopathy of Prematurity

1) myopia

2) RD

3) glaucoma

4) cataract

5) phthisis bulbi

Retinoschisis - Congenital

1) macular schisis (100%)

2) peripheral schisis (50%)

3) vitreous vascular veils

4) poor vision

5) nystagmus

6) strabismus

7) vitreous hemorrhage

8) normal EOG, decreased b wave on ERG

Shaken baby syndrome (order of frequency)

1) intraocular hemorrhage (preretinal and retinal heme)

2) lid ecchimosis

3) RD, retinal dialysis

4) cataract/subluxated lens

5) papilledema / optic atrophy

6) subconj. heme

7) esotropia

Spasmus Nutans

1) unilateral or bilateral nystagmus

2) begins before 1 year

3) usually finishes prior to 3 years

4) no nystagmus during sleep

5) torticollis

6) head nodding

7) begins between 4 and 18 months of age

8) horizontal, torsional, or vertical nystagmus

Spherophakia

Associations: Marfan’s, Weil Marchesani

Findings

1) myopia

2) pupil block, worse with miotics

3) Tx: mydriatics

Stargardt’s (“juvenile mac deg.”)

- most common hereditary maculopathy

- AR

1) present as young children

2) vision decreases to 20/200 by age 20, but one eye may remain 20/70 -20/100

3) pattern ERG: abnormal

4) full field ERG: ?

5) EOG: normal ?

Superior limbic keratitis

1) F > M

2) recurs over 1-10 years

3) often bilateral

4) papillary rxn

5) thickened superior limbus

6) staining of superior conj.

7) filaments

8) associated with thyroid (50%)

Terrien’s marginal degeneration

1) unil or bilateral

2) 20-40 y.o.

3) begin’s at 12:00

4) epithelium intact

5) pannus over area of thinning

6) perforation with mild trauma

7) lipid line at anterior edge

8) against the rule astigmatism (like wound gape)

9) Tx: lamellar graft

Thygeson’s SPK (1950)

1) multiple gray/granular epithelial opacities

2) lesions stain with both fluorescein and rose bengal (mild fluor. stainig?) - minimal staining with fluo.

3) quiet eye

4) rare subepithelial opacity

5) usually bilateral

6) symptoms: f.b. sensation, reduced vision, photophobia

7) recurrent episodes

8) respond to steroids or CL