Aseg exam 1 associations and differentiations

• Down Syndrome
• Ehlers-Danlos
• Fetal Alcohol Syndrome
• Cri du Chat
• Klinefelter
• Turner's
• Congenital ptosis

Pseudoesoptropia - use Hirshburg test

• Astigmatism
• keratopathy

Entropion

anopthalmus

• syndactyly
• mental retardation
• cleft lip
• meningoencephalocele
• developmental abnormalities

• special association:
• Ablepharon-Macrostomia Syndrome (AMS) - fish mouth and underdeveloped ears

• malpositioned lateral canthi
• lateral ectropion
• blepharophimosis
• lagophthalmus -> exposure keratitis
• laterally displaced lacrimal system
• double row of meibomian glands
• telecanthus
• strabismus

• Waardenburg's syndrome
• Fetal alcohol syndrome
• blepharophimosis

Hypertelorism

• ocular:
• ptosis
• epicanthus inversus
• no levator fold
• lateral ectropion
• hypoplasia of superior orbital rim
• telecanthus
• inverted medial canthus fold
• lacrimal abnormalities
• depreivation ambylopia (50%)

• Other:
• low nasal bridge
• mental retardation
• infertility

essential blepharospasm - treat with botox

• lens coloboma
• iris coloboma
• retina coloboma
• Treacher Collins
• Cryptophalmus
• Fraser Syndrome
• Goldenhar Syndrome (most common) - upper lid coloboma epibulbar dermoid, preoricular skin tag
• Leukocoria

Down Syndrome

• Fraser's Syndrome
• Cryptophthalmos-syndactyly syndrome

Total ankyloblepharon (pseudocrytophthalmus) - eye forms, but lids don't separate

• Tarsal Kink Syndrome
• Stevens-Johnson Syndrome

• If bilateral: absence of optic chaism; corpus collosum disruption
• microblepharon

• Cleft syndromes
• Microcornea

• Exophthalmus
• Hypertelerism
• Apert Syndrome (closely related)
• Shortened Femur and humerus
• Acanthosis Nigrican (dark streaks)
• Partial syndactyly (if Type 2)
• V-type exotropia
• Blue sclera
• Aniridia
• Cataract
• Glaucoma
• Coloboma
• Megalocornea
• Optic Nerve Hypoplasia
• Ectopic lens

• Ocular:
• epibulbar dermoid
• upper lid coloboma
• microphthalmus
• microcornea
• disc coloboma (with leucocoria)
• strabismus

Lateral lower lid coloboma

• microphthalmus
• Iris Coloboma
• Shallow anterior chamber angle
• Glaucoma (closed 1st, then open 2nd)
• Congenital cataracts
• Riger anomaly
• microphakia
• optic nerve hypoplasia
• aniridia
• Axenfeld syndrome
• Corectopia
• Nystagmus
• Papillary membrane
• Retinopathy of Prematurity (ROP)
• Leukoma
• Cornea plana (poss hyperopia)
• Weill-Marchesani syndrome
• Waardenburg
• Fetal Alcohol
• Ehler-Danlos
• Rubella
• Trisomy 21

Sclerocornea

• WTR astigmatism
• Pigmentary Dispersion Syndrome - Krukenburg Spindle; Iris red light reflex on ITI
• Neuhauser Syndrome - megalocornea; mentral retardation
• Down syndrome
• Ehler-Danlos
• Alport

• Buphthalmos: elevated IOP; englarged globe and cornea
• Congenital Glaucoma: elevated IOP; Haab's Striae; bupthalmos; 1st year of life; unilateral or bilateral; progressive

Congenital glaucoma

• Scherlocornea
• Disruption of iris and lens

• Ocular:
• Cornea plana (bilateral)
• Angle closure glaucoma
• Narrow angle glaucoma
• Open angle glaucoma
• Aniridia
• Arcus juvenilis
• Blue Sclera
• Cataract
• Ectopia lentis
• Microcornea
• Microphthalmos
• Peripheral anterior synechiae
• Retinal aplasia
• Retinal/uveal coloboma

• Systemic:
• Cranial dystrophies
• Cerebellar and ear abnormalities
• Osteogenesis imperfecta
• Hallerman-Streiff
• Hurler's
• Maroteaux-Lamy
• Polydactyly
• Unbalance Translocation

Pannus -> fribrovascular net

• Corneal haze
• endothelial pigment
• Guttata (3 things: posterior keratoconus, endothelial dystrophy, Fuch’s (Hassell-Henle bodies due to old age have peripheral guttata))
• Hypertelorism
• Corneal nebulae from acute hydrops
• endothelial precipatetes
• aniridia
• iris atrophy
• mesodermal tissue in angle
• Choroid/retinal sclerosis

Peter's Anomaly

Uveal tissue lines posterior to cornea

• Caused by Lasik or Keratoconus
• no uveal ring posteriorly

• Irregular lenticular astigmatism
• Alport's Syndrome (90%)
• Spherophakia
• Anterior polar cataract
• Posterior Cortical cataract
• Fundus lesions (drusen)
• Neobascularization
• Posterior polymorphous dystrophy
• Sensorineural deafness
• Hearing loss in later childhood
• Renal involvement (with hearing loss)
• Hematuria (most common and earliest Alport's manifestation; all men and 95%F)
• Dot-Fleck retinpathy (most common ocular finding in Alports 85%M)

• no systemic manifestations
• Post capsule wrinkles

Posterior polar lens opacity

• Ocular:
• Glaucoma (angle closure)
• Peter's Anomaly
• Lenticular Myopia
• Familial ectopia lentis et pupilae (AR)

• Systemic:
• AD type - no systemic defects
• Marfan's
• Congenital Rubella
• Posterior Synechiae
• Glaucomflecken
• Weill-Marchesani (collagen ds) - short staure; skeletal malformation, brachycephaly, limited joint mobility, ectropion lentis, lenticular myopia, glaucomflecken

• Lowe's Syndrome - lens is small and disk like
• Lowe's diagnosis triad: 1. congenital cataract 2. neonatal/infantile hypotonia with subsequent mental impairment 3. renal tubular dysfunction
• Lowe's have glaucoma (w/ or w/out buphthalmos in 50-60% of boys w Lowe's) - usually bilateral, usually diagnosed in the 1st year of life

• Optic nerve, retina, iris coloboma
• Microphthalmia
• Marfan's Syndrome
• Morning Glory

• 10% - no ocular anomalies or glaucoma
• Axenfeld-Reiger Syndrome
• Alagille's Syndrome

• Limbal Girdle Vogt
• Arcus
• Pannus

glacoma develops in 50% of anomaly

Alagille's Syndrome -> do EOG/ERG (abnormal)

• Neonatoral jaundice (70%)
• Borad forehead
• POinted chin
• Elongated nose
• Cardiac murmurs and stenose

Axenfeld's Syndrome -> do EOG/ERG (normal)

• Glacoma in 50%
• Corectopia
• Polycoria
• Ectropion uvea

• Glacoma (50%)
• Congenital cardiac defects
• Cleft lip or palate
• Craniofacial dysplasia
• Skeletal abnormalities

• Posterior lenticonus
• Lentiglobus
• Microspherophakia

• AN2 - Wilm's Tumor (renal); WAGR complex (Wilm's tumor, Aniridia, Genitourinary malformations, Retardation); Miller's Syndrome (Wilm's tumor + aniridia)
• AN3 - Gillespie's Syndrome (mental retardation, cerebellar ataxia)

• Hordeolum -> timing, pain, infection
• Ocular leishmaniasis with lid involvement - ask about Middle Eastern travel
• Cellulitis
• Pyogenic granuloma
• Sebaceous cell carcinoma
• Sarcoid

Acne vulgaris

Graves (b.c hyerhidrosis in heat)

Apocrine cyst (doesn't worsen in heat)

• Down Syndrome
• Diabetes

• Viral Wart
• Seborrheic keratosis
• Intradermal nevus
• Carcinoma
• Viral Papilloma -> young pts, pedunculated, associated wtih HPV

Occasionally cutaneous horns

Lesser-Trelat: multiple eruptive seborrheic keratoses with internal malignancy (typically adenocarcinoma of GI tract)

• Pigmented basal cell carcinoma
• Nevus
• Melanoma

HPV 6, 11, 16

Squamous Cell Papilloma

Furguson-Smith Syndrome: AD, multiple lesion keratoacanthoma

• Squamous Cell Carcinoma
• Basal Cell Carcinoma

Atypical Mole Syndrome - multiple dysplastic nevi, increases chance of conjunctival and uveal nevi and melanoma

• Sturge-Weber Syndrome:
• 1. Cerebellar arterial/venular malformations
• 2. Port Wine Stain - CNV capillary abundance
• 3. Choroidal Hemangioma

Capillary Hemangioma will blanch

• High ouput heart failure
• Kasaback-Merritt: thrombocytopenia, anemia, low coagulation factor levels
• Maffuci Syndrome: skin hamangiomas, enchondromata of hands, feet, long bones (which may bow)

Nevus - will not blanch

• Conjunctival Melanoma: scleral pigment abnorm in Caucasians; PAM if not born with pigment and deefer vessels present
• Squamous Cell Carcinoma: feeder vessels & lobulated appearance; PG not lobulated (onr or two humps only)
• Conjunctival Nevus: No feeder vessels
• Lymphoma: larger and present all around limbus; firm
• Papilloma: "just looks different"
• Kaposi's Sarcoma: immunocompromised pt; lesion more purple
• Sarcoid Granuloma: Granulomas all over body, even lung

• Actinic Keratosis
• Bowen's Disease: conjunctival intraepithelial neoplasia then can involve lids

Keratoacanthoma

Muir-Torre Syndrome

• Chronic unilateral blepharitis (no such thing)
• Recurrent chalazion

• Entropion with misdirected lashes
• AIDS
• Herpes Virus #8 (Karposi virus)

• Floppy eyelid syndrome
• dermatochalasis
• CN7 Bell's Palsy

• Stevens-Johnson Syndrome
• Ocular cicatricial pemphigoid

• Ehler-Danlos
• Lupus
• Both are CT diseases

chronic blepharitis with recurrent chalazion could be sebaceous cell carcinoma

• VKH
• TS (tuberous Sclerosis)
• Irradiation
• SO (sympathetic Ophthalmia)
• Waardenburg's Syndrome
• Chroquine and Hydroxychroroquine (plaquenile) - antimalarial and RA, cause whorl keratopathy in cornea, cause bull's eye maculopathy