CONGENITAL AND GENETIC DISEASE

Doppler principle: fluid moving toward probe returns at higher frequency signal and vice versa.

Intraocular mass ultrasound procedure: in B-scan mode have patient look in direction of lesion, place probe on lid, and measure anteroposterior view straight on (measure lesion distance from ON). Then place probe on sclera with probe 90 degrees away from lesion for a transverse measurement. With probe tip pointing in the meridian of the lesion, take longitudinal measurement. Note the lesion meridian, clock hour, and whether it is anterior or posterior to the equator. Then perform A-scan to evaluate mass characteristics.

Melanoma usually has a dome shape, regular surface, collarbutton or mushroom, and orange pigment; ultrasound shows orbital shadowing, internal hollowing, choroidal excavation, angle-kappa, and low reflectivity. Metastatic cancer shows irregular surface, often subretinal fluid (SRF).

Orbital mass ultrasound: useful to evaluate mass topography and quantitative characteristics (internal structure, regularity, reflectivity, sound attenuation posterior to lesion). Kinetic examination is useful to evaluate consistency and vascularity. Use transocular or periocular views to see orbital lesions, muscle or ON lesions. Increased ON thickness may be from tumor or from subarachnoid fluid if the ON thickness decreases by 10% when patient looks from primary gaze to 30-degree abduction.

Most tumors, neurofibromas, lymphangiomas, and pseudotumors have high internal reflectivity; however, melanomas, sinus mucoceles, and small cell tumors such as lymphoma and lung and cervical CA have low internal reflectivity.

Congenital and Genetic Disease

ANKYLOBLEPHARON Failure of lids to separate; filiforme variant has strands of tissue connecting lids. Associated with visceral and spinal abnormalities.

BLEPHAROCHALASIS Rare familial disorder with recurrent bouts of lid edema and inflammation in young females. Eventually leads to thickened skin, ptosis from levator dehiscence, or orbital fat prolapse.

BLEPHAROPHIMOSIS SYNDROME (MNEMONIC: PET PEEVE) Ptosis, epicanthus inversus (lower lid), telecanthus, and phimosis (horizontal palpebral fissure shortening). Also flattened nasal bridge, lop ears, midfacial hypoplasia, hypertelorism, euryblepharon, lower lid ectropion, but with normal intelligence quotient (IQ ). Associated with dysmenorrhea and ovarian failure; thus, greater inheritance in males, as females are often infertile. Most are autosomal dominant, chromosome 3q22, but also sporadic. Treat telecanthus first, then ptosis.

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BLEPHAROPTOSIS, MYOGENIC CONGENITAL PTOSIS Also known as simple isolated congenital ptosis. May be sporadic or autosomal dominant, characterized by dysgenesis of the levator muscle, which is atrophic and replaced by fibrous or fatty tissue. Patients may use CN VII to elevate the brow and thus lids. Check for Marcus Gunn jaw wink (synkinesis of CN III and CN V not aberrant regeneration), which may cause surgical overcorrection if not recognized. Other blepharoptosis syndromes include:

Congenital fibrosis of the EOM: rare, autosomal dominant, bilateral ptosis and external ophthalmoplegia; chromosome 12

Chronic progressive external ophthalmoplegia (CPEO): manifestation of many disorders (most commonly mitochondrial myopathies), characterized by bilateral, symmetrical, progressive ptosis, and ophthalmoparesis; eyes do not move with head motion.

Kearns-Sayre syndrome: mitochondrial inheritance with CPEO before 20 years old, plus retinal pigmentary degeneration and heart block.

Oculopharyngeal muscular dystrophy: late onset progressive dysphagia and bilateral and symmetrical moderate ptosis with good levator function (LF). Ask about swallowing difficulty. Autosomal dominant, chromosome 14q11; usually in French-Canadians.

CLEFTING DISORDERS, EYELID COLOBOMA Usually upper eyelid fullthickness colobomatous defect; rule out other clefting (e.g., Tessier clefts of lip and palate). Lubricate cornea; surgical repair with direct closure or Tenzel flap (no lid sharing techniques in children).

Goldenhar’s syndrome: asymmetric first and second branchial arch disorder (like Treacher Collins syndrome) associated with upper lid colobomatous defect, epibulbar dermoid, Duane’s syndrome, preauricular appendages, and bony defects. Also microphthalmia, anophthalmia, ON hypoplasia, ocular colobomas, palatal and facial clefts.

Pierre Robin syndrome: is a symptoms complex characterized by small jaw and often have clefting; most patients have defined syndromes, most commonly Stickler’s.

Treacher Collins–Franceschetti syndrome (mandibulofacial dysostosis): rare autosomal dominant, first and second branchial arch developmental disorder of mesodermal migration. Patients have ‘‘hound dog’’ faces with bilateral and symmetrical downward slant of palpebral fissures, pseudocolobomas of the lids, midface hypoplasia, and dental and ear abnormalities. Mandibular and laryngeal hypoplasia may be life threatening.

CONGENITAL EYELID EVERSION May be from infection such as chlamydia or associated with Down syndrome. Lubricate; often resolves.

CRANIOSYNOSTOSES Premature closure of cranial sutures (plagiocephaly if one suture); often have hypertelorism and small orbits. All are autosomal dominant except Carpenter’s. Common features: midface hypoplasia,

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proptosis, telecanthus, V-pattern exotropia, and oral, dental, and respiratory problems.

Crouzon syndrome: autosomal dominant, proptosis, malar hypoplasia, prominent lower lip and base of skull is hypoplastic

Apert syndrome: autosomal dominant with digital involvement, proptosis

Pfeiffer syndrome: Apert’s with short, broad thumb and big toe, syndactyly, shallow orbits

Carpenter syndrome: autosomal recessive, polysyndactyly

CRYPTOPHTHALMOS Autosomal recessive failure of eyelids and anterior segment to develop. Has absence of lacrimal gland, hairline grows over eyes, clefting, and usually normal hands.

Fraser syndrome: cryptophthalmos with genitourinary abnormalities and syndactyly (as in Apert’s with ‘‘mitten’’ hands)

DACRYOCYSTOCELE Enlarged lacrimal sac at birth from blocked Hasner’s valve. Not a true cyst. Differential diagnosis includes hemangioma, encephalocele, and dermoid. Often resolves but may need massage or patient may become septic if infected and then need IV antibiotics and probing.

DISTICHIASIS Lashes from meibomian glands, usually fine hairs without consequence; autosomal dominant.

EPIBLEPHARON Autosomal dominant altered lower lid retractor attachments allowing override of pretarsal orbicularis muscle above lid margin, causing a congenital entropion (watch for keratopathy from lashes against globe), usually in Asian patients. Also associated with lymphedema (hypoplastic lymphatics that develop at about 10 years of age and persist lifelong even though lid changes improve) and odd malignancies (sarcomas, pheochromocytomas). Lubricate; patients usually outgrow.

EURYBLEPHARON Horizontal PF widening from hereditary descent of lateral canthus (lateral ectropion, antimongoloid slant) with widening of medial canthus. Treat with full-thickness skin graft; may have to address malar hypoplasia with implants and midface lift.

LACRIMAL FISTULA Epithelial-lined communication between common canaliculus or lacrimal sac and skin. If associated with NLDO with reflux through fistula, then treat with antibiotics, probing, and excision of fistulae.

NASOLACRIMAL DUCT OBSTRUCTION, CONGENITAL Present in up to 6% of neonates; 90% resolve without surgery by 12 months old. Tearing differential diagnosis includes congenital glaucoma. NLDO is usually from blocked Hasner’s valve as it opens into the inferior turbinate and may have congenital dacryocystocele. Treat with Crigler massage, erythromycin ointment, then probing under general anesthesia with possible

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56 ORBIT, EYELIDS, AND OCULAR ADNEXA

inferior turbinate infracture if not resolved by age 12 months. After age 18 to 24 months or several failed probings, consider silicone stent intubation. May also attempt balloon dilation of nasolacrimal duct (e.g., Lacricath), or consider DCR.

PHAKOMATOSES See Chapter 9 for complete description.

Neurofibromatosis 1: cafe´ au lait spots, cutaneous neurofibromas, plexiform neurofibroma (‘‘S’’-shaped eyelid), ON glioma, absence of sphenoid wing (pulsatile proptosis), other osseous deformities

Neurofibromatosis 2: bilateral acoustic neuroma, meningioma, glioma, schwannoma, sphenoid bone dysplasia, orbital, cutaneous, and plexiform neurofibromas

Tuberous sclerosis: ash leaf spots, fine facial acne (adenoma sebaceum), retinal and CNS astrocytic hamartomas, defect on chromosome 9 (mnemonic: sclerosis has nine letters)

Sturge-Weber syndrome (encephalotrigeminal angiomatosis): unilateral facial, choroidal, or meningeal cavernous angioma

Louis-Bar’s syndrome (ataxia-telangiectasia): telangiectasias on face, neck, or conjunctiva with cerebellar ataxia

Wyburn-Mason’s syndrome (racemose hemangioma): arteriovenous malformations of face, orbit, retina, and brain.

von Hippel-Lindau disease (angiomatosis retinae): capillary hemangiomas of retina, cerebellar hemangioblastoma, 25% renal cell CA, renal, pancreatic, or other solid organ cysts, meningiomas, pheochromocytomas. Autosomal dominant defect on chromosome 3 (mnemonic: VHL is three letters).

Infectious Disease

CANALICULITIS Usually inferior canaliculus with focal swelling, and gritty sensation and resistance with probing. Usually from Actinomyces israelii with yellow concretions; may have a dacryolith. Also caused by Streptomyces,

Arachnia propionica (Streptothrix), Nocardia, Candida, and Aspergillus niger. Treat with penicillin irrigation, external massage, and curettage.

CAVERNOUS SINUS THROMBOSIS An intracranial infection from infectious thrombosis in cavernous venous plexus. Rare today, but Mucor is most common cause, often in a obtunded toxic patient; high mortality.

DACRYOADENITIS Usually noninfectious (pseudotumor), but if infectious, usually viral (Epstein-Barr virus); higher rate in alcoholics.

DACRYOCYSTITIS Swelling and tenderness over lacrimal sac with mucopurulent reflux on palpation. Usually elderly women with NLDO and tear stasis from pneumococci or Haemophilus influenzae, Pseudomonas, mixed causes, Actinomyces, or Candida. Acutely treat with systemic (IV or PO and

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topical antibiotics), warm compresses, and pain control. Incise and drain a pointing abscess. Do not probe; will usually need DCR later.

ECHINOCOCCOSIS, HYDATID CYST DISEASE From dog tapeworm; rupture of cyst may cause severe inflammation. Diagnose with intradermal antigen (Casoni’s reaction), and treat with excision of cyst.

HIV AND AIDS ORBITAL LESIONS Higher rate of sinusitis; also consider Mycobacterium avium intracellulare (MAI), pneumocystis, aspergillosis, cryptococcus, microsporidia, and rule out syphilis. Masquerades: Hodgkin’s and non-Hodgkin’s lymphoma are more aggressive, and may invade sinuses and orbit.

HORDEOLUM Acute infection of meibomian gland (internal stye or acute chalazion) or Zeis’ or Moll’s gland (external or common stye); may become chalazia (chronic). Treat with antibiotics, warm compresses; may excise chalazia if persistent.

MOLLUSCUM CONTAGIOSUM DNA poxvirus that causes a waxy umbilicated nodule; usually affects children and immunosuppressed patients (often multiple lesions) and is contagious. On pathology, HendersonPaterson corpuscles are filled with poxvirus, and the expulsed virus may cause follicular conjunctivitis and ipsilateral preauricular lymphadenopathy. Resolves spontaneously, but if not, incise and central curettage (make it bleed), excision or Retin-A (tretinoin) treatment.

ORBITAL CELLULITIS (Table 2–1) Infection posterior to the septum often with proptosis, pain, EOM restriction, possibly decreased VA or APD; may have fever, sweats, nausea, or vomiting. Most cases (44%) are pediatric (0– 20 years old), but also middle age (40%), and elderly (16%). Consider endogenous infection or malignancy. Staphylococcus aureus is leading cause, also Streptococcus species and anaerobes. In children, consider Haemophilus (rarely caused by HSV, HZV, Aspergillus, or Mucor). Usually contiguous

TABLE 2–1

Clinical Grouping of Orbital Cellulitis

Group 1 Inflammatory edema, preseptal, clear demarcation line at the arcus marginalis

Group 2 Orbital cellulitis, postseptal, EOM restriction; may have decreased VA Group 3 Subperiosteal abscess; surgical debridement usually necessary

Group 4 Orbital abcess, systemic symptoms, abaxial displacement; urgent surgical debridement usually necessary

Group 5 Cavernous sinus thrombosis (no backflow valves in orbital veins) or orbital apex syndrome; bilateral orbital signs, dusky eyelids, profound CNS signs and symptoms; usually in an ICU setting

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58 ORBIT, EYELIDS, AND OCULAR ADNEXA

spread from sinusitis, most commonly ethmoids (thin perforated walls pneumatized at birth, whereas maxillary open by age 2–4 years old, frontal by 7–15 years old; sphenoid sinus is last to pneumatize). CT may show sinus opacification, diffuse orbital infiltration, ground-glass appearance, possible abscess formation, but CT findings lag the clinical picture (especially if the patient is clinically improving).

Hospitalize and treat with IV antibiotics for at least 72 hours, then outpatient PO antibiotics for 14 days. In children, cover for Haemophilus influenzae and sinusitis organisms (e.g., vancomycin plus ceftazidime). Usually a very sick child; see patient several times per day. Blood culture is positive in 40% of children but not adults. In adults, cover gram-negative organisms and anaerobes (e.g., Unasyn or Cefepime plus clindamycin). Monitor vision, proptosis, motility, pupils, and CNS function. Lack of progression is good; if patient improves, then plateaus, consider abscess formation.

Subperiosteal abscess: usually superomedial adjacent to ethmoids/ frontal sinuses. Subperiosteal space is poorly vascularized (antibiotics poorly penetrate; thus, it is a surgical disease). Usually forms in a stable or improving patient who then deteriorates. May have nonaxial proptosis, ON atrophy, exposure keratitis, central retinal artery occlusion, cavernous sinus thrombosis, meningitis, and brain abscess. CT immediately; may see ‘‘ring’’ sign, or may have intraorbital loculi from septae of Koornneef. Treat with IV antibiotics and drainage. Children <9 years old can be medically treated up to 72 hours before considering drainage (83% improve medically, and only 17% who are drained have positive cultures; thus, it is usually a sterile phlegmon). Older children and adults need drainage (75–100% have culture-positive abscess after drainage). Urgent surgical intervention if ON compression (decreased VA, APD) or retinal compromise.

Mucormycosis: facultative anaerobe causing obliterative vasculitis, pain, proptosis, bloody chemosis, and cavernous sinus syndrome. Usually presents in poorly controlled diabetes (70%), other immunosuppressed (18%), renal disease (5%), leukemia (3%), and no systemic illness (4%). Rapidly progressive with 6 to 8 hour window to begin treatment.

Get tissue biopsy (may see black eschar on conjunctiva, nasal or palate mucosa; if not, take some mucosa anyway). Pathology: large nonseptate hyphae with right angle branching on hematoxylin and eosin stain (H & E) or silver stain.

Treat with local surgical debridement until tissue freely bleeds (exenteration may be necessary if infection is extensive). Amphotericin B IV and local irrigation increase survival from 6% without treatment to 73% with treatment. Patients with diabetes do better because they have a treatable disease (reverse their ketoacidosis).

Aspergillosis: chronic indolent orbital cellulitis with history of allergy, asthma, and sinusitis. Most patients are otherwise healthy; although

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