Chromosomal Defects - Ophthalmology

1p: Schnyder’s crystalline corneal dystrophy

1p: Stargardt’s/fundus flavimaculatus

1q: juvenile OAG (AD)

2q: AR Alport’s

2q: Oguchi’s disease

3p: Von Hippel Lindau

3q: CSNB (rhodopsin)

3q: RP (AR & AD) (rhodopsin)

3q: Dominant (Kjer) optic atrophy

3q: blepharophimosis syndrome

4q25: Axenfeld-Rieger’s syndrome (“Rieg” gene) AD

4q25: Iridogoniodysgenesis syndrome (Rieger’s?)

a.k.a. iris hypoplasia (not aniridia)

5q31: granular/lattice/Avellino/Reis B?

6p: RP-AD (RDS/peripherin)

6p11: retinal macular dystrophy? (RDS/periph.)

6p11: retinitis punctata albescens (RDS/periph.)

6p25: iridogoniodysgenesis anomaly

6q14: North Carolina macular dystrophy

6q14: PBCRA - progr. bilat. chorioret. atrophy

9q: Tuberous sceposis

10q: gyrate atrophy

11p13: aniridia (PAX6)

11p13: Peter’s anomaly (PAX6)

11q: oculocutaneous albinism (tyrosinase -)

11q: FEVR

11q: Best’s

11q: ataxia-telangiectasia (Louis Bar)

12: cornea plana

12q13: Stickler’s

12q13: Wagner’s

13q14: RB

13: A.D. coloboma

14q: rod monochromacy

14q: oculopharyngeal dystrophy

15q: oculocutaneous albinism (tyrosinase +)

15q: Marfan’s (fibrillin)

16q21: macular dystrophy of cornea

17q11: NF1

17p: central areolar choroidal dystrophy

17p: Leber’s congenital amaurosis

20q11: posterior polymorphous dystrophy

21q: homocystinuria (cystathione synthase)

22q12: NF2

22q: Sorsby’s dystrophy

Autosomal Dominant Disorders

A) Anterior segment

i) corneal dystrophies

1) post. embryotoxon

2) M-D-F

3) Reis Buckler’s

4) gelatinous droplike dystrophy (amyloid)

5) Lattice/Granular

6) cornea farinata

7) Meesman’s dystrophy

8) Schnyder’s central crystalline dystrophy

9) CHSD

10) fleck dystrophy

11) posterior amorphous stromal dystrophy

12) Fuch’s endoth. dystrophy

13) Posp. Polym. dystrophy - some

14) CHED - some (progressive)

ii) other

1) aniridia (2/3)

2) Axenfeld-Rieger’s (75%)

3) sclerocornea

4) simple ectopia lentis

5) blepharophimosis syndrome

6) seborrheic keratosis

7) basal cell nevus syndrome

8) juvenile onset glaucoma - some

9) cong. cataracts - some

10) cornea plana - some

11) keratoglubus - some

12) microcornea - some

13) megalocornea - some

B) Posterior segment

1) Most phacomatosis (NF, TS, VHL)

2) fleck dystrophy

3) RP - some - 22%

4) FEVR

5) Sorsby’s

6) North Carolina dystrophy

7) Wagner’s

8) Stickler’s

9) familial drusen - common

10) disc drusen

11) central areolar choroidal dystrophy

12) Best’s - incomplete penetrance - common

13) coloboma - some

14) Tritanopia/ tritanomolous

C) Plastics

1) congenital fibrosis syndrome - some

2) euryblepharon - some

3) Apert’s

4) Crouzon’s

5) Treacher Collins (Kanski)

6) Goldenhar’s (Kanski)

D) Systemic

1) osteogenesis imperfecta

2) Marfan’s

3) Alport’s - rare

4) Gardner’s

5) myotonic dystrophy

6) Waardenburg’s

Autosomal Recessive Disorders

A) Anterior segment

1) cornea plana

2) congenital glaucoma

3) macular dystrophy

4) sclerocornea

5) lipoid proteinosis

6) ectopia lentis et pupillae

7) post polymorphous dystrophy

8) CHED - some (non-progressive)

9) keratoglobus - some

10) cong. cataracts - some

11) megalocornea - rare

B) Posterior segment

1) RP - some - 10%

2) ocular albism - some

3) Goldman Favre

4) uveal coloboma - some

5) Bietti’s crystalline dystrophy

6) Leber’s congenital amaurosis

7) Oguchi’s disease

8) oculocutaneous albinism

9) Stargardt’s

10) rod monochromatism

C) Plastics

1) congenital fibrosis syndrome - some

D) Systemic

1) Wilson’s disease

2) ochronosis - alkaptonuria

3) Cockayne syndrome

4) xeroderma pigmentosum

5) ataxia-telangiectasia

6) Weill Marchesani (1 parent usually short -carrier)

7) cystinosis

8) tyrosinemia

9) homocysteinuria

10) Alport - rare

11) oculocutaneous albinism

12) abetalipoproteinemia

X-linked disorders - underlined were on exam

A) Anterior segment

1) megalocornea - most

2) cong. cataracts - some

B) Posterior Segment

1) choroideremia (geranygeranyl transferase)

2) congenital stationary night blindness - some

3) blue cone monochromatism (Xq28)

4) Norrie’s disease

5) red or green color deficiencies

6) juvenile retinoschisis

7) ocular albinism (“Nettleship Falls”)

7) Aicardi’s

8) primary retinal dysplasia - some (same gene as Norrie’s)

9) FEVR - some (same gene as Norrie’s)

10) cone dystrophy - some

C) Systemic

1) RP (some) - worst

2) ocular albinism (Nettleship-Falls type)

3) Lowe’s (oculocerebral)

4) Fabry’s

5) incontinentia pigmenti (woman only; males lethal)

6) M.L.S. (microphthalmia with linear skin defects)

7) Alport - some; XL dominant

8) Nance Horan

9) Hunter’s

Sporadic disorders

A) Anterior Segment

1) ICE syndrome

2) Peter’s

3) cong. cataracts - 60%

4) post. lenticonus

5) aniridia - 1/3

6) sclerocornea (50%)

7) Axenfeld-Rieger’s (some)

8) Fuch’s endoth. dystrophy - some

B) Posterior Segment

1) RP

2) Wyburn Mason (racemose angiomatosis)

C) Plastics

1) congenital fibrosis syndrome - some

2) euryblepharon - some

D) Posterior Segment

1) Sturge Weber

2) Prader Willi

Mitochondrial inherited

1) MERRF (myoclonus, epilepsy, ragged red fibers)

2) MELAS (mitochondrial encephalopathy, lactic acidosis, )

3) Leber’s optic neuropathy (11778)

4) Kearns syndrome / CPEO

5) Leigh’s

Multiple chromosome Defects

1) Bardet-Biedl (AR RP): 11q, 16q, 3q, 15q:

2) Waardenburg: 2q, 3p, 11p13 (PAX3)

3) congenital cataracts: 1p, 1q, 2q, 16q, 17p,

17q, 22q

4) congenital glaucoma: 2p, 1p,

5) Stickler’s: 6p, 12q

6) ARRP: 1q, 3q, 4p, 6p, 11q

7) ADRP: 3q

8) sporadic RP: 6p, 7p, 7q, 8q, 17p, 1p, 17q, 19q

9) Usher’s: 1q, 3q, 10q, 11p, 11q, 14q, 21q

10) cone rod dystrophy: 18q, 19q

11) congenital fibrosis of the EOM’s: 12, 7p

Enzyme deficiencies or gene anomalies

1) choroideremia: geranygeranyl transferase

2) gyrate atrophy: ornithine aminotransferase

3) galactosemia: gal-1-P uridyl transferase, (classic), galactokinase, galactose epimerase

4) RP: rhodopsin, peripherin, PDE, ROM1

5) retinitis punctata albescens, RP: peripherin

6) Marfan’s, ectopia lentis: fibrillin

7) Norrie’s, XL FEVR, XL retinal dysplasia: norrin

8) Von Hipple: novel mb protein

9) oculocutaneous albinism (tyr-): tyrosinase

10) Oguchi’s: arrestin, PDE

11) CSNB - some: rhodopsin

12) NF1: neurofibromin

13) NF2: Schwannomin

14) Ochronosis (alkaptonuria): homogentisc acid oxidase (homogentisic acid is interm. in

breakdown of tyrosine)

15) Wagner’s, Stickler’s: collagen type II

16) Fabry’s: alpha galactosidase

17) Sorsby dystrophy: metalloproteinase inhibitor

18) homocysteinuria: cystathione synthase

Cone locations

1) Red cone pigment: Xq28,

2) Green cone pigment: Xq28

3) Blue cone pigment: 7q31

Treatable systemic diseases with retinopathy

1) gyrate atrophy

Dx: increased ornithine

Tx:: diet

2) cobalamin C defects

Dx: homocystine in urine?

Tx: hydroxycobalamin

3) abetalipoproteinemia

Dx: low serum lipids

Tx: Rx: Vit A and E

4) cystinosis

Tx:: cysteamine

5) mucopolysaccharidosis

Tx: bone marrow transplant

6) Refsum’s disease

Dx: increased phytanic acid

Tx: plasmaphoresis

7) osteopetrosis

Tx: B.M.T.

8) Alagille syndrome

Tx: Vit A and E

9) syphilis

Tx: Penicillin

10) Vit A deficiency

Tx: Vit A

11) cancer

12) oxalosis

Tx: pyridoxine (B6)

13) Cogan’s syndrome

Tx: Immunosuppressants

14) hypercalcuria

Tx: treat kidney stones

15) homocystinuria

Tx: pyridoxine, diet, ASA

HLA associations

A29: birdshot retinochoroidopathy

B5: Behcet’s (Bw51 subset)

B7: POHS

B8: ant. uveitis in blacks, primary Sjogren’s

syndrome

B27: ant. uvieitis with IBD, AS, psoriasis, Reiter’s

Bw54: Posner-Schlossman, VKH

DR2: MS, POHS

DR3: Thygeson’s, Sjogren’s

DR4: OCP, VKH

DR5: pauciarticular JRA

Sex Ratios of eye diseases

Disorders more common in women

A) Autoimmune conditions

1) SLE

2) Graves’ (4:1)

3) Hashimoto’s

4) RA

5) DM type I

6) polymyositis

7) primary Sjogren’s syndrome (9:1)

8) SLK

9) optic neuritis

10) scleritis

11) erythema multiforme (SJ)

12) pemphigoid (2:1)

13) sarcoidosis (2:1)

14) OCP (2:1)

B) Retinal conditions

1) macular hole (3:1)

2) epiretinal membranes

3) ARMD

4) acute macular neuroretinopathy

5) MEWDS (4:1)

C) Anterior segment

1) dry eyes

2) ICE syndromes

3) post. keratoconus

4) blepharitis

5) M-D-F

6) blepharochalasis

7) sebaceous cell carcinoma (2:1)

8) Salzmann’s nodular degeneration

9) PACG

10) xanthelasma

11) chronic iridocyclitis (of young girls)

D) Neuro

1) morning glory disc (2:1)

2) idiopathic intracranial hypertension

3) meningioma (3:1)

4) CVA

5) essential blepharospasm

6) Duane’s (2:1)

E) Orbit/plastics

1) capillary hemangioma (2:1)

2) NLD obstruction (2:1)

3) fibrous dysplasia

4) cavernous hemangioma

Disorders more common in men

A) anterior segment

1) Mooren’s ulcer

2) spheroidal degeneration

3) anterior lenticonus

4) pigment dispersion

5) vernal

6) Reiter’s (90%)

B) Retina

1) Coat’s (retinal telangiectasia)

2) Eales’ (primary idiopathic retinal vasculitis)

3) idiopathic juxtafoveal telangiectasia (type 1)

4) Leber’s (90%)

C) Neuro

1) medullated nerve fibers

2) Behr’s optic atrophy

3) glioblastoma (optic nerve)

4) oculomotor apraxia

5) CPEO

D) Other

1) traumatic eye disease (all)

2) pleomorphic adenoma (benign mixed)

3) primary systemic amyloidosis

Disorders more common in blacks

1) sarcoid

2) limbal vernal

3) COAG

4) racial melanosis

5) tyrosinase positive oculocutaneous albinism

6) nevus of Ota

7) SCA

Disorders more common in Asians

1) vernal

2) VKH

3) Behcet’s

4) racial melanosis

5) Nevus of Ota

Diseases more common in whites

1) ARMD

2) BCC, SCC, melanoma of skin

3) uveal melanoma in nevus of ota

Syndromes with Eye Findings

Abetalipoproteinemia

(Bassen-Kornzweig Syndrome)

- AR

1) abetalipoproteinemia

2) malabsorption of fat

3) acanthocytosis (crenated RBC’s)

4) ataxia, neuropathy

5) retinitis pigmentosa

6) cardiac myopathy

7) angioid streaks (rare)

8) retinopathy can be arrested by vitamin E supplements

Aicardi’s

1) XL dominant (females only)

2) MR

3) agenesis of corpus callosum

4) large round depigmented chorioretrinal lesions

5) optic head colobomas

AIDS

new CDC HIV definition

1) HIV+

and any of the following:

1) CD<200

2) TB

3) cervical CA

4) recurrent pneumonia

Eye findings

1) lids

a) Kaposi's

b) HSV & HZV

c) HPV

d) molluscum

2) conjunctiva

a) Kaposi's

b) CMV, HSV, HZV

3) cornea

a) HSV, HZV, Candida

b) microsporidia

4) iris

a) toxo iritis

5) retina

I) Infectious

a) CMV

b) ARN: HSV, HZV

c) toxo

d) candida

e) syphilis

II) non-infectious

a) CWS

b) hemorrhages

c) IRMA

d) ischemic maculopathy

6) choroid

a) PCP

b) MAI

c) Candida

d) Toxo

7) vitreous

a) bacterial endophthalmitis

8) optic nerve

a) CMV

b) syphilis

c) optic atrophy (CNS cryptococcus)

9) orbit

a) Kaposi’s

b) Burkitt’s

10) neuro

a) cranial nerve palsies

Albinism - Oculocutaneous

A) Tyrosinase negative

1) AR

2) path: no melanin pigment seen at all

3) no pigment in skin or eye (oculo-cautaneous)

4) iris transillumination

5) acuity < 20/100

6) nystagmus

7) strabismus

8) photophobia

9) foveal hypoplasia (no foveal pit)

10) increased or decreased crossing? at chiasm

11) high refractive errors

B) Tyrosinase positive

1) AR

2) path: normal # of pigment granules, decreased melanin within the granules; see

macromelanosomes in Chediak-Higashi type

3) associated with various syndromes (Chediak Hegashi, Hermanski Pudlak)

4) ocular findings similar to tyrosinase negative but not as severe

5) skin findings more variable

6) more common in blacks

Albinism - Ocular(“Nettleship Falls”)

1) X-linked

2) path: macromelanosomes (classic) – large pigment granules

3) poor acuity

4) nystagmus

5) photophobia

6) foveal hypoplasia

7) iris: “cartwheel transillumination”

Carriers of X-limnked albinism

1) pigment changes in iris

2) fundus pigment changes

3) macromelanosomes on path

4) ? light hair

Albinoidism

1) normal acuity (or slight decrease)

2) normal fovea

Alport Syndrome

- X-linked dominant (80%); AD and AR described

1) hereditary nephritis

2) deafness

3) platelet anomalies

Ocular

1) anterior lenticonus +/- ant. polar cataract

2) post. lenticonus (less common) +/- PSCC

3) spherophakia

4) retinal stippling

Ankylosing Spondylitis HLA –B 27

1) iritis

2) sacroilitis

3) lung apex fibrosis

4) aortitis (5%)

Apert's syndrome

A) Ocular

1) strabismus

2) optic atrophy

3) exposure

4) anti-mongoloid slant

B) Systemic

1) craniosynostosis

2) syndactyly of hands (“mitten hands”)

3) raised intracranial pressure

4) congenital heart disease

5) MR in 1/3

6) lung

7) kidney

Behcet’s diagnosis (painful) NON

Complete: - 4 main Sx.

Incomplete

a) 3 main Sx.

or b) recurrent eye disease + 1 main

Suspect: 2 major (not eyes)

Possible: 1 major

main signs:.

1) aphthous ulcers

2) genital ulcers

3) eye lesions

4) skin lesions

A) Anterior Segment

1) anterior uveitis

2) fine KP’s (upper cornea)

3) can have mutton fat KP’s

4) hypopyon

B) Posterior segment

1) retinal vasculitis

2) retinal hemorrhages

3) macular edema

4) retinal necrosis

5) AION

6) vitiritis

B) Skin lesions

1) erythema nodosa

2) acne

3) hypersensitivity

C) Other features

1) arthropathy

2) CNS involvement (meningismus, CVA’s, palsies, confusion): 25%

3) GI lesions

4) occlusive b.v. disease

5) aneurysm formation

6) epididymitis

7) thrombophlebitis

Behr’s optic atrophy

1) M > F

2) AR

3) increased DTR

4) ataxia

5) MR

6) hypotonia

7) external ophthalmoplegia

8) visual acuity ?

CHARGE

1) coloboma

2) heart disease

3) choanal atrasia

4) mental retardation

5) genital hypoplasia

6) ear anomalies (deafness)

Cockayne syndrome

- AR

A) Ocular

1) band keratopathy

2) lens: cataracts

3) iris hypoplasia poor dilation (characteristic)

4) pigmentary retinopathy

5) strabismus

6) nystagmus

7) optic atrophy

8) enophthalmos

9) hyperopia

B) Systemic

1) bird like facies

2) cachexia

3) growth retardation

4) CNS: MR, seizures

5) deafness

Congenital Rubella

A) systemic

1) congenital heart disease

2) myocarditis

3) pneumonitis

4) hepatosplenomegaly

5) jaundice

6) thrombocytopenic purpura

7) microcephaly

8) MR

9) deafness

10) encephalitis

B) Ocular

1) vision good (20/20-20/60)

2) normal ERG and EOG, dark adaptation

3) corneal clouding

4) cataracts (20%)

5) angle dysgenesis

6) iris dilator hypoplasia

7) microphthalmia

8) pigment retinopathy Salt and pepper

9) chorioretinitis

10) congenital glaucoma

11) nystagmus

Congenital Syphilis

A) Systemic

1) notched incisors

2) frontal bossing

3) saddle nose

4) saber shins

5) CN 8 deafness

6) rhagades (circumoral lines)

7) MR

B) Ocular

1) deep IK as child or adolescent

2) active IK may have salmon patch appearance

3) KP’s during active IK

4) bilat in 80% (acquired unilateral in 60%)

Cogan’s syndrome

- young adult

- URTI 1-2 weeks prior to symptoms

A) Systemic

1) verigo

2) tinnitus

3) hearing loss

4) systemic vasculitis (PAN)

B) Ocular

1) patchy IK

treatment: topical and systemic steroids

Crouzon's disease - AD

A) Ocular

1) proptosis - exposure keratopathy

2) hypertelorism

3) exophthalmos

4) strabismus (V pattern XT most common)

5) papilledema

6) optic atrophy

B) Systemic

1) craniosynostosis

2) hypoplastic mandible

3) respiration abnormal

C) Emergencies

1) globe dislocation: lift lid over globe to treat

2) exposure: tarsorraphy needed

3) papilledema from increased ICP and ON compression?

Cystinosis - AR

- high intracellular cystine

- plasma levels normal

- treatment: oral and topical cysteamine

A) Ocular

1) corneal deposits

2) prominentt photophobia

3) conjunctiva deposits

4) iris crystal depoits

5) retinopathy

B) Systemic

1) kidney: causes rickets, renal failure

2) bone marrow deposits

3) WBC’s

4) three forms: infantile, adolescent, adult

De Morsier’s

clinical triad: 1-3

1) short stature

2) ON hypoplasia

3) nystagmus

4) agenesis of corpus callosum

5) panhypopit (hyperglyc, DI, hypothyroid)

6) absence of septum pellucidum

Duane’s

1) F>M 2:1

2) OS>OD 3:2

3) bilateral 10%

4) epibulbar dermoids

5) pre-auricular appendages

6) deafness

7) webbed neck

Fabry’s disease (and other sphingolipidoses) - X-linked

- alpha galactosidase deficiency

- Tay Sachs is also a sphingolipidosis

A) Ocular signs

1) cornea vorticillata

2) spokelike cataracts

3) aneurysmal dilation of conj. veins

4) retina: vessel tortuosity

5) papilledema

6) optic atrophy

B) Systemic

1) skin changes: angiokeratoma

2) myocardial ischemia

3) cardiopulmonary hypertension

4) renal failure

Fetal Alcohol Syndrome - eye findings

1) blepharophimosis

2) ptosis

3) telecanthus

4) anterior segment dysgenesis

5) retinal vascular tortuosity

6) esotropia

7) ON hypoplasia

Floppy eyelid

A) Ocular

1) lax upper tarsus

2) easily everted

3) papillary conjunctivitis

4) mucous D/C

5) keratoconus

6) pannus

7) punctate keratitis

B) Systemic

1) Obese

Gardner’s syndrome (familial polyposis)

1) AD

2) chromosome 5

3) osteomas

4) fibromas

5) dental abnormalities

6) CHRPE - bear tracks

Goldenhar’s

triad: 1-3

- unilateral (80%)

- sometimes AD? (Kanski)

A) Ocular

1) upper lid colobomas

2) antimongoloid slant

3) limbal dermoids

4) decreased corneal sensation

5) Duane’s

B) Systemic

1) vertebral deformities

2) pre-tragus fistulas

3) preauricular appendage

4) deafness

5) large mouth

6) mandibular hypoplasia

Histoplasmosis

1) fever

2) chills

3) cough

4) chest discomfort

5) headache

6) arthralgias and myalgias

7) erythema nodosum

8) erythema multiforme may accompany

9) Healed pulmonary lesions usually resolve completely

10) calcified granulomas may later be seen in lung parenchyma, hilar and mediastinal lymph nodes, and spleen

Homocystinuria

Rx: pyridoxine (B6), diet, ASA

test: sodium nitroprusside

- AR

A) Systemic

1) MR

2) thromboemboli

3) marfanoid habitus

4) arteriosclerosis

** Beware of general anesthesia

B) Ocular

1) lens: sublux

2) retina: pigm. changes

Hyperparathyroidism

1) band keratopathy

2) kidney stones

3) ulcers

Hypoparathyroidism

1) blepharospasm

2) punctate keratitis

3) polychromatic cataract (50%)

4) pannus

5) papilledema (increased ICP)

6) extraosseous calcification

Idiopathic Intracranial HTN

A) Systemic

1) CSF pressure > 250 cm H2O

2) normal CSF chemistry

3) unilateral or bilateral CN 6 palsies

4) 80% women

5) teens - 50s

6) obese

7) headaches

8) normal to small ventricles on CT

B) VF defect

1) blind spot enlargement

2) NFB defects

3) generalized depression

JXG (touton cells)

A) Ocular

1) lesions develop in first 2 years of life

2) lesions resolve in 3-6 years

3) ocular lesions: tens to involve iris or c.b.

4) retina, choroid, conj, sclera, cornea have all had documented lesions

5) glaucoma

6) teatment of complications only (topical steroids, pressure drops, excision)

B) Systemic

1) kidney and liver nodules

2) lesions of face, neck, upper body

Juvenile retinoschisis

A) Ocular

1) peripheral schisis 50%

2) foveal schisis 100%

3) VH

4) macular dragging

5) strabismus

6) nystagmus

7) carriers may show some changes

8) ERG: decreased b wave

9) NFL schisis

10) vitreous veils

11) tritan defect??

JRA

A) Ocular

1) band keratopathy

2) cataracts

3) post. synechia

4) glaucoma

5) uveitis

6) phthisis

Kawasaki Syndrome (infantile PAN)

- systemic steroids contraindicated

- use cycloplegics or mild topical steroid for iritis (synechia have not been reported)

A) Systemic

1) fever

2) skin rash

3) mucous membrane congestion

4) lymphadenopathy

5) systemic vasculitis

6) coronary artery aneurysms

B) Ocular

1) conjunctivitis

2) iritis (mild)

Kearns-Sayre

A) Ocular

1) Pigmentary retinopathy

2) CPEO

B) Systemic

1) ataxia

2) nerve deafness

3) heart block

4) elevated CSF protein

Lateral Medullary syndrome (Wallenberg)

- 80% are post inf. cerebellar artery (PICA)

A) Ipsilateral

1) Horner’s

2) CN 5, 9, 10, 11

3) voice affected (palate); hiccups

4) cerebellar ataxia

B) Contralateral

1) no pain or temp sensation

2) nystagmus

C) Ocular

1) skew?

Ligneous Conjunctivitis

Involves

1) conj (upper > lower)

2) buccal mucosa

3) nasopharynx

4) vagina, cervix

5) middle ear

Leber’s optic atrophy

- bilateral; mito-linked

A) Ocular

1) disc swelling

2) vision loss to 20/200

3) papillary telangiectasia

4) swelling of NFL

5) +/- hemorrhage or exudate

B) Systemic

1) deafness

2) migraine

3) vertigo

4) dementia

Lowe’s syndrme (oculocerebrorenal syndrome)

1) x-linked recessive (males only)

2) female carrier: cortical lens opacities

A) Ocular

1) cornea: keloids

2) lens: cataracts; small, disc shaped lens

3) glaucoma

B) Systemic

1) renal rickets

2) amino aciduria

3) CNS: MR, seizures

4) MSK: growth retarded

Lyme disease

- caused by Borrelia Burgdorferi

A) Ocular

1) conjunctivitis

2) stromal keratitis

3) iritis

4) pars planitis

5) posterior uveitis

6) papilledema

7) cranial nerve palsies

B) Systemic

1) skin rash

2) meningitis

3) cardiac disease

Stages of Lyme Disease

1) first month

- skin: erythema chronicum migrans

- eye: follicular conjunctivitis

- constitutional symptoms

2) 1-4 months after

- neurologic: meningitis

- MSK: arthritis

- cardiac: myocarditis

- ocular: uveitis, keratitis

3) > 5 months

- skin: atrophic skin changes

- ocular: keratitis

- neuro: chronic meningitis

- lungs: ARDS

Malignant Hyperthermia

1) AD or spontaneous

2) 1 per 10000 (higher in kids)

3) triggered by:

i) inhalation anesthetics: halothane, enflurane,

isoflurane

iii) muscle relaxant: succinylcholine

4) first sign:

i) tachycardia (most common)

ii) elevated end tidal CO2

iii) masseter spasm

Marfan’s syndrome (1:20000) 15q

- defect: fibrillin

- Propanolol treatment for heart

- IV ABC’s before surgery

A) Ocular

1) cornea: flat cornea; megalocornea

2) lens: ectopia, spherophakia, earlier age of cataract

3) iris: poor dilation, iridodinesis, atrophy of dilator muscle

4) EOM: strabismus

5) angle: COAG

6) retina: RD’s

B) Systemic

1) aortic root dilatation and aortic aneurysms

2) upper: lower segment increased

3) MV prolapse

4) arachnodactily

5) tall

MEN IIB

1) enlarged corneal nerves

2) dry eyes

3) typical facies

4) Marfenoid habitus

5) submucosal neuromas

6) pheochromocytomas

7) medullary thyroid cancer

MEWDS - described in 1984 (Jampol)

1) unilateral

2) females 4:1

3) outer retina, inner RPE

4) blurred vision, depressed fields

5) mild papillitis

6) may follow flu

7) good outcome (no scars left)

Moebius

nerves: CN 5-10,12 (typically 6 and 7)

1) absence of pectoralis (Poland anomaly)

2) polydactily (extra digits)

3) syndactily

4) tongue defect

5) hypoplastic limbs

6) Pierre Robin sequence

Mucolipidoses

- defect in lysosomes

1) cherry red spot

2) corneal clouding

Mucopolysaccharidosis (AAO cornea p.238)

-defect in carbohydrate metabolism

Ocular findings:

1) corneal clouding (except Hunter’s and S-F)

2) retinopathy

3) optic atrophy

4) papilledema

5) Hurler’s, Scheie’s, Hunter’s, Morquio, Sanfilippo

Myotonic dystrophy (Steinert’s)

- AD; 1 per 30000

A) Ocular

1) ptosis

2) blepharitis

3) christmas tree cataract

4) pigmentary retinopathy

5) pattern dystrophy

6) light near dissociation

7) sluggish (tonic), miotic pupils

8) exodeviations

9) decreased ERG

10) ocular hypotony

B) Systemic

1) baldness

2) testicular atrophy

3) myotonia - don’t release grip

4) MR

5) abnormal cardiac conduction

6) skull abnormalities

Multiple myeloma

A) Anterior segment

1) follicles

2) cornea crystals

3) copper in Descemet’s

4) iridocyclitis

B) Posterior segment

1) pars plana cysts anterior lens displacement

2) stasis retinopathy

3) papilledema

4) NV??

Norrie’s disease:

- x-linked

- bilateral

A) Ocular

1) cornea opacifies

2) cataract develops

3) total retinal detachments

4) retinal dysplasia

5) phthisis by age 10

B) Systemic

4) deafness

5) MR

Ochronosis (1:250000)

A) Ocular

1) scleral pigment (over muscles)

2) peripheral corneal pigment

B) Systemic

1) brown urine

2) skin pigment (axilla, genitals, over cartilage (nose, hands, ribs))

3) joint disease (depos.)

4) kidney disease (depos.)

Ocular Cicatricial Pemphigoid

A) Organs

1) mouth

2) oropharynx

3) genitals

4) anus

5) skin

6) lids

B) Eyes

1) dry eyes

2) loss of goblets

3) shortened fornices

4) symblephera

5) rarely, EOM restriction

6) entropion

7) trichiasis

Olivipontocerebellar atrophy

- hereditary and sporadic forms

1) pigmentary retinopathy

2) CPEO

3) optic atrophy

4) ataxia

5) slurred speech

6) young adults

Osteogenesis Imperfecta (1:20000)

Eye findings

1) blue sclera

2) keratoconus

3) post. embryotoxon

4) megalocornea

5) Saturn ring - whitening of paralimbal sclera

6) papilledema/optic atrophy - from bone compression

Paget’s Disease of Bone

- aka osteitis deformans

- heavily calcified bones

- exuberant osteoclastic reaction with a

secondary osteoblastic response

- an elevated serum alkaline phosphatase

A) Ocular

1) angioid streaks

2) blue sclera

B) Systemic

1) pelvis

2) skull

3) femur

4) humerus

Paraneoplastic Retinopathy

A) Ocular

1) constricted VF

2) decreased night vision

3) photopsia

4) color blindness

B) associated cancers

1) oat cell

2) Hodgkin’s

Parinaud’s dorsal midbrain

A) Findings

1) light-near dissociation

2) lid retraction

3) convergence retraction nystagmus

4) decreased upgaze, later decreased

downgaze

5) papilledema

6) skew deviation

7) impaired convergence?

B) Causes

1) pinealoma

2) hydrocephalus

3) vascular

4) mets

5) astrocytoma

Polyarteritis Nodosa

A) Ocular

1) orbit vasculitis

2) scleritis

3) retinal vasculitis

B) Systemic

Prader Willi syndrome (1:20000)

- deletion of 15 q11

A) Ocular

1) strabismus (common)

2) increased crossing of nerve fibers

3) nystagnus

4) glaucoma

5) ectropion uvea

B) Systemic

1) hypotonia

2) obesity

3) hypogonadism

4) short stature

5) small hands and feet

PXE- damage to elastic tissues (eg. Blood vessels)

A) Ocular

1) angioid streaks

2) peau d’orange: pathognomonic

3) “punched out” retinal lesions

4) o.n. drusen?

B) Systemic

1) plucked chicken skin (neck, axilla, genital)

2) GI bleeding (b.v.)

3) CNS bleeds

4) peripheral vascular disease

Reiter’s syndrome

- occurs after G- dysentry or chlamydia urethritis

A) Ocular

1) conjunctivitis: 50%

2) iritis: 10%

3) keratitis

4) corneal infiltrates

5) corneal pannus

B) Systemic

1) urethritis

2) polyarthritis

3) fever

4) scaling skin eruption: keratoderna blenorrhagicum

5) balanitis

6) aphthous ulcers

7) lymphadenopathy

8) pneumonitis

9) pericarditis

Refsum’s Disease - phytanic acid storage disease

A) Ocular

1) atypical RP **

2) cataracts (rare)

3) pupil abnormailities

B) Systemic

1) polyneuritis

2) dry skin

3) ataxia

4) deafness

5) anosmia

Rubinstein-Taybi syndrome (1:30000)

- sporadic

A) Ocular

1) antimongoloid slant

2) NLD obstruction

3) cataract

4) strabismus

5) congenital glaucoma

B) Systemic

1) CNS: MR

2) broad thumbs

3) beaked, broad nose

4) ear anomalies

5) cong. heart disease

6) lung anomalies

7) MSK anomalies

8) GU anomalies

Sarcoidosis

- Mikulicz's syndrome (dry mouth and eyes)

- Heeford's syndrome

A) Ocular

1) lids: granulomas

2) sclera: scleritis, episcleritis

3) iris: acute and chronic iritis

4) choroid: choroiditis with D-F nodules, SRNV

5) retina: - retinal vasculitis; seafans (NV)

6) disc: NVD, disc edema

no EOM or orbital c.t. involvement

B) Systemic

1) hilar lymohadenopathy

2) erythema nodosum

3) hepatosplenomegaly

4) arthritis

5) lymphadenopathy

6) cardiac abnormalities

7) myositis

8) meningitis with CN2 and CN 7 involved

Sickle cell findings

A) Ocular Findings

1) comma shaped conj. vessels

2) higher IOP with hyphema

3) salmon patch

4) iridescents spots

5) black sunburst

6) sea fans, NV(SC, SThal)

7) autoinfarcts

8) vitreous hemorrhage

9) CRAO (SS)

10) ON damage with moderately elevated IOP

Sjogren’s

- lacrimal gland infiltration with tear deficiency and either xerostomia or a CTD

- young to middle age women

A) CTD associated

1) RA

2) SLE

3) PAN

4) others

B) Systemic findings

1) swollen lacrimal gland

2) swollen parotid gland

3) exocrine dysfunction

4) atrophy of gastric mucosa

5) atrophy of cvaginal mucosa

6) kidney infiltration

7) muscle infiltration

8) lung infiltration

9) Raynaud’s

10) arthralgias

11) myalgias

12) fever

C) Serology

1) ANA

2) anti SS-A or SS-B

Sticklers (1:20000) - AD

(eye findings only: Wagner’s)

A) Ocular

1) lens sublux. (rare), early cataracts

2) retina: lattice, RD, sheathing, pigment around vessels

3) myopia

4) glaucoma (5%)

5) optically empty vitreous

B) Systemic

1) Pierre Robin anomaly

2) joint abnormalities

3) MV prolapse

4) deafness

5) cleft palate

6) abnormal facies

Temporal arteritis findings

A) Ocular

1) AION

2) CRAO

3) CN 3, 4, 6 palsy

4) anterior segment ischemia

5) hyperemia of the conjunctiva

6) iris rubeosis

7) cataract

8) considerable disc cupping

9) corneal edema

B) Systemic

1) TIA’s

2) occipital infarct

3) PMR

4) MI

5) CVA

6) ESR normal in 10%

7) biopsy + for 2 weeks after steroids started

8) biopsy: 3 cm long

Trisomy 13 (Patau Syndrome)

A) Ocular

1) globe: synophtalmos/cyclopia, coloboma with cartilage, PHPV, microphthalmia

2) retina: retinal dysplasia (multilayered rosettes)

3) lens: cataract (retained nuclei?)

4) cornea: clouding

5) uvea: coloboma

6) optic nerve hypoplasia, atrophy

7) lids: epicanthal folds, no eyebrows

B) Systemic

1) polydactily

2) cleft lip/palate

3) GU abnormalities

Trisomy 18 (Edwards)

1) lids: epicanthal folds, ptosis, blepharophimosis

2) glaucoma

3) microphthalmos

4) coloboma

5) corneal opacities

6) blue sclera

Trisomy 21 (Down)

A) Systemic

1) protruding tongue

2) flat nasal bridge

3) low malformed ears

4) MR

5) simian crease

B) Ocular findings

1) lids: epicanthal fold, blepharitis, mongoloid slant, ectropion, telecanthus, sparse lashes

2) conj: conjunctivitis

3) cornea: keratoconus with hydrops, prominent nerves

4) lens: cataracts

5) iris: Brushfield's - hypercellular iris stroma

6) angle: glaucoma

7) retina: pigmentary retinopathy, macular hypolplasia ?, RD’s?, abnormal vessels?

8) optic nerve: atrophy

9) EOM: strabismus (esp ET), nystagmus

10) refraction: hyperopia and myopia

Turner’s (45 XO)

A) Ocular

1) sclera: blue color

2) lens: ant. embryonal cataract

3) pupillary heterotropia

4) nystagmus

5) strabismus

B) Systemic

1) shield chest

2) MR

Usher’s syndrome- AR

- several types ranging in severity

1) pigmentary retinopathy

2) deafness

Vertebrobasilar insufficiency

A) Ocular

1) horizontal gaze palsy

2) vertical gaze palsy

3) INO

4) skew deviation

5) CN 3,4, or 6 palsy

6) Horner’s

7) nystagmus

B) Systemic

1) drop attacks

2) ataxia

3) vertigo

4) vomiting

5) tinnitus

6) deafness

7) dysarthria

8) dysphagia

9) hemiparesis

10) hemisensory deficit

VKH

- a panuveitis -Granulomatous

- choriocapillaris involved

A) Integumentary

1) vitiligo

2) poliosis

3) alopecia areata

A) Anterior segment

1) mutton-fat KP’s

2) iritis

3) iris nodules

4) synechiae

B) Posterior Segment

1) vitritis

2) optic disc swelling

3) retinal edema and hemorrhages

4) exudative RD

5) choroidal infiltrates

6) RPE infiltrates

7) deep orbital pain

8) depigm. of the perilimbus (Sugiura's sign)

9) depigm. of the fundus (sunset glow fundus)

C) Systemic

1) headaches

2) nausea

3) slight fever

4) meningitis

5) tinnitus

6) deafness

7) hyperesthesia of skin

Waardenburg’s - AD

1) telecanthus

2) confluent eyebrow

3) heterochromia

4) deafness

5) white forelock

6) pale fundus

Wegener’s areas of involvement

A) Ocular

1) orbit vasculitis

2) scleritis

3) retinal vasculitis

B) Systemic

1) kidney

2) lung

3) sinuses

4) positive C-ANCA

Weil-Marchesani (1:100000)

A) Ocular

1) microspherophakia (↑ pupil block and ACG)

Rx: Meds: dilate; Surgery: PI

2) myopia

B) Systemic

1) short stature

2) short stubby hands and feet

3) normal intelligence

Wilson’s - AR

- decreased ceruloplasmin

- Tx: penicillamine, decreased copper intake

- DDx: primary biliary cirrhosis, hepatitis, chalcosis, cholestasis of childhood

A) Ocular

1) K-F ring

2) sunflower cataract

B) Systemic

1) liver cirrhosis

2) CNS: basal ganglai (PD-like)

3) kidney

Xeroderma Pigmentosum

A) Ocular

1) entropion, ectropion

2) SCC, BCC of lids

3) dry eye

4) conj. melanosis and melanoma

B) Systemic

1) skin: dryness, scaling, freckling

2) malignant skin tumors

3) neurologic abnormalities (MR)

4) deafness