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Ординатура / Офтальмология / Английские материалы / Oxford American Handbook of Ophthalmology_Tsai, Denniston, Murray_2011

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616 CHAPTER 18 Pediatric ophthalmology

Table 18.13 Orbital tumors of childhood (selected)

Congenital

Examples

Choristoma

Dermoid cysts

Acquired

 

Optic nerve

Glioma

Vascular

Capillary hemangioma, lymphangioma

Infiltrative

Myeloid leukemia, histiocytosis

Other

Rhabdomyosarcoma, teratoma

Metastases

Neuroblastoma, nephroblastoma, Ewing’s sarcoma

 

 

Abnormal eye size

Abnormalities of globe size usually result from abnormalities of development, although it may arise secondary to ocular disease (e.g., buphthalmos in glaucoma) (Table 18.14). While severe forms may be obvious from simple observation, milder isolated aberrations of size may only be evident as an axial refractive error.

Table 18.14 Abnormal eye size: causes and key features

Abnormally large eye

 

 

Axial myopia

Mild (physiological) to severe and progressive

 

 

 

(pathological) ilength; ± other ocular abnormalities

 

 

Buphthalmos

Diffusely large eye (with megalocornea) associated with

 

 

 

glaucoma

 

 

Megalophthalmos

Diffusely large eye (with megalocornea) without

 

 

 

glaucoma; ± other ocular abnormalities

 

 

Pseudo-large eye

Consider proptosis or abnormally small contralateral eye

 

 

Abnormally small eye

 

 

Microphthalmos

Diffusely small eye (axial length 2 SD < normal) ± ocular

 

 

 

or systemic anomalies

 

 

Nanophthalmos

Small eye with microcornea, normal-sized lens, and

 

 

 

abnormally thick sclera

 

 

Phthisis bulbi

Acquired shrinkage of the eye due to chronic ocular

 

 

 

disease

 

 

Pseudo-small eye

Consider ipsilateral ptosis or enophthalmos, or

 

 

 

abnormally large contralateral eye

 

 

 

 

COMMON CLINICAL PRESENTATIONS 617

Common clinical presentations: cloudy cornea and leukocoria

Opacification of the cornea, lens, or posterior structures is usually associated with poor vision and may indicate serious, even life-threatening, pathology.

Cloudy cornea

Corneal opacities may be focal (either central or peripheral) or diffuse in nature (Table 18.15). They may be an isolated finding, associated with other ocular abnormalities, or part of an inherited syndrome. They may be congenital, acquired at birth, or develop during childhood.

Leukocoria

All patients with leukocoria (Table 18.16) must be urgently assessed for the possibility of retinoblastoma. Congenital cataracts are generally easily identified. Other conditions may be less readily differentiated from retinoblastoma, most commonly persistent fetal vasculature syndrome, Coats’ disease, toxocara infection, and ROP.

Table 18.15 Corneal opacities: etiologies and key features

Diffuse

 

 

 

Birth trauma

Forceps injury may induce ruptures in Descemet’s

 

 

membrane (usually unilateral with vertical break)

 

Keratitis (infective,

Photophobia, watery eye, circumlimbal injection,

 

allergic, exposure)

corneal infiltrate ± epithelial defect ± AC activity

 

Corneal dystrophies

Clinical pattern varies but may be evident from birth

 

 

(e.g., congenital hereditary endothelial dysfunction)

 

Metabolic

Bilateral corneal clouding with systemic abnormalities

 

 

in some mucopolysaccharidoses or mucolipidoses

 

Central

 

 

 

Peter’s anomaly

Congenital, usually bilateral central opacities 9

 

 

adhesions to iris/lens (posterior ulcer of von Hippel)

 

Peripheral

 

 

 

Sclerocornea

Bilateral (often asymmetric), peripheral opacification

 

 

with vascularization ± other corneal/angle anomalies

 

 

 

Limbal dermoid

Solid white mass that may involve peripheral cornea;

 

 

 

rarely bilateral and 360*around the limbus

 

Posterior embryotoxon

Peripheral opacity due to anteriorly displaced

 

 

Schwalbe’s line ± other angle/ocular abnormalities

 

 

 

 

 

618 CHAPTER 18 Pediatric ophthalmology

Table 18.16 Leukocoria: etiologies and key features

Lens

 

Cataract

Lens opacity: stationary or progressive; isolated,

 

or associated with other ocular or systemic

 

abnormalities

Vitreous

 

Persistent fetal

Variable persistence of fetal vasculature/hyaloid

vasculature

remnants; often microphthalmic; usually unilateral

syndrome

 

Inflammatory cyclitic

Fibrous membrane behind the lens arising from

membrane

the ciliary body due to chronic intraocular

 

inflammation

Retina

 

Retinoblastoma

Retinal mass of endophytic, exophytic, or

 

infiltrating type; tumor may spread to anterior

 

segment, orbit. This is life threatening if untreated!

Coloboma

Developmental defect resulting in variably sized

 

defect involving optic disc, choroid, and retina

Coats’ disease

Retinal telangiectasia with exudation, lexudative

 

retinal detachment in severe cases

Retinopathy of

Early cessation of peripheral retinal vascularization

prematurity (ROP)

due to prematurity causes fibrovascular

 

proliferation

Familial exudative

Early cessation of peripheral retinal vascularization

vitreoretinopathy

due to inherited defect causes ROP-like picture in

 

full-term infant

Incontinentia

Abnormal peripheral retinal vascularization due

pigmenti

to inherited defect causes ROP-like picture in girls

 

(lethal in boys)

Retinal dysplasia

Gray vascularized mass from extensive gliosis (e.g.,

 

Norries disease, Patau syndrome)

Infection

 

Toxocara

Unilateral granuloma or endophthalmitis

 

 

INTRAUTERINE INFECTIONS 619

Intrauterine infections

Congenital infections have a variable effect on morbidity and mortality dependent on the infecting organism and stage of gestation of the fetus. Overall, however, ocular morbidity is common.

These organisms can be screened by means of the TORCH screen for maternal antibodies to Toxoplasma, Other (e.g., syphilis), Rubella, Cytomegalovirus, and Herpes simplex.

Congenital toxoplasmosis

The impact of transplacental infection by toxoplasma is greatest early in pregnancy. The spectrum of disease ranges from an asymptomatic peripheral patch of retinochoroiditis (often an incidental finding of inactive scar years later) to a blinding endophthalmitis (Table 18.17).

Congenital syphilis

Previously in decline, syphilis has made a comeback in recent years. The early stage is characterized by inflammation (Table 18.18). Many of the late manifestations are direct sequelae of this process. Others (such as interstitial keratitis) may be an immunological phenomenon.

Congenital rubella

Incidence of rubella has declined since the advent of the rubella vaccination. The virus is well known for its teratogenic effects (especially with early infection). It also has ongoing pathogenicity with virus shedding for up to 2 years of age, interstitial pneumonitis and pancreatic inflammation within the first year, and panencephalitis as late as 12 years of age (Table 18.19).

Congenital CMV

Although commonly asymptomatic, congenital infection with CMV may cause severe systemic disease. Retinitis tends to be unifocal, more similar to toxoplasmosis than adult CMV retinitis (Table 18.20).

Congenital HSV

It is rare for HSV to be acquired at the intrauterine stage; more commonly, HSV may be acquired at birth from maternal genital HSV lesions (Table 18.21).

620 CHAPTER 18 Pediatric ophthalmology

Table 18.17 Clinical features of congenital toxoplasmosis

Ocular

Retinochoroiditis (more commonly bilateral and affecting the

 

macula than in acquired disease), cataract, microphthalmos,

 

strabismus

Systemic

Hydrocephalus, intracranial calcification, hepatosplenomegaly

 

 

Table 18.18 Clinical features of congenital syphilis

Early disease (<2 years of age)

Ocular

Chorioretinitis and retinal vasculitis (results in characteristic

 

salt-and-pepper fundus)

 

Conjunctivitis

Systemic

Mucocutaneous rash; periostitis and osteochondritis

Late disease (>2 years of age)

Ocular

Interstitial keratitis (usually presents at 5–20 years of age)

 

Optic atrophy

Systemic

Saddle nose, frontal bossing, saber shins, Hutchinson’s teeth,

 

scoliosis, hard palate perforation

 

 

Table 18.19 Clinical features of congenital rubella

Ocular

Nuclear cataract, microphthalmos, glaucoma (congenital or

 

infantile), corneal clouding, retinitis

Systemic

Congenital heart disease, sensorineural deafness, anemia,

(early/late)

thrombocytopenia, bone abnormalities, hepatitis, CNS

 

abnormalities (e.g., encephalitis)

 

 

Table 18.20 Clinical features of congenital CMV

Ocular

Retinitis (focal)

Systemic

IUGR, microcephaly, hydrocephalus, intracranial calcification,

 

hepatosplenomegaly, thrombocytopenia

 

 

Table 18.21 Clinical features of congenital HSV

Ocular

Chorioretinitis

Systemic

Microcephaly, intracranial calcification

 

 

OPHTHALMIA NEONATORUM 621

Ophthalmia neonatorum

Ophthalmia neonatorum is defined as a conjunctivitis occurring within the first month of life. Organisms are commonly acquired from the birth canal. The main risk factor is therefore the presence of sexually transmitted disease in the mother.

Ophthalmia neonatorum affects up to 12% of neonates in the Western world and up to 23% in developing countries. It is potentially sight threatening and may cause systemic complications. In some countries (including the United States), it is a reportable disease (within 12 hours).

Gonococcal neonatal conjunctivitis

Clinical features

Hyperacute (within 1–3 days of birth), with severe purulent discharge, lid edema, chemosis, ± pseudomembrane, ± keratitis.

Investigation

Prewet swab or conjunctival scrapings: immediate Gram stain (gramnegative diplococci), culture (chocolate agar), and sensitivities.

Treatment

Ceftriaxone 50 mg/kg IV 1x/day 1 week; frequent saline irrigation of discharge until eliminated.

After appropriate counseling, refer mother (with partner) to urogenital physician.

Chlamydial neonatal conjunctivitis

This is the most common cause of neonatal conjunctivitis. A papillary rather than follicular reaction is seen from delayed development of palpebral lymphoid tissue.

Clinical features

Subacute onset (4–28 days after birth), mucopurulent discharge, papillae, ± preseptal cellulitis.

Systemic (uncommon): rhinitis, otitis, pneumonitis.

Investigation

Prewet swabs are usually for immunofluorescent staining, but cell culture, PCR, and ELISA may be used.

Conjunctival scrapings: Giemsa stain.

Treatment

Erythromycin 25 mg/kg 2x/day for 2 weeks.

After appropriate counseling, refer mother (with partner) to urogenital physician.

Other bacterial neonatal conjunctivitis

Other bacterial causes include Staphylococcus aureus, Streptococcus pneumoniae (which require topical antibiotics only), and Haemophilus and Pseudomonas (which requires additional systemic antibiotics to prevent systemic complications).

Clinical features

Subacute onset (4–28 days after birth), purulent discharge, lid edema, chemosis, ± keratitis (Pseudomonas)

622 CHAPTER 18 Pediatric ophthalmology

Investigation

Prewet swab or conjunctival scrapings: Gram stain, culture, sensitivities.

Treatment

Gram-positive organisms: topical (e.g., erythromycin ointment 4x/day); adjust according to sensitivities.

Gram-negative organisms: topical (e.g., tobramycin ointment 4x/day); adjust according to sensitivities.

HSV neonatal conjunctivitis

Although viral causes of neonatal conjunctivitis are uncommon, they may cause serious ocular morbidity and systemic disease.

Clinical features

Acute onset (1–14 days), vesicular lid lesions, mucoid discharge ± keratitis (e.g., microdendrities), anterior uveitis, cataract, retinitis, optic neuritis (rare).

Systemic (uncommon but may be fatal): jaundice, hepatosplenomegaly, pneumonitis, meningoencephalitis, disseminated intravascular coagulopathy (DIC).

Investigation

Swab or conjunctival scrapings transported in viral culture medium; PCR.

Newborns with ocular HSV infection must be evaluated for systemic infection. There should be a very low threshold for hospital admission and systemic antiviral treatment.

Treatment

Acyclovir ointment 5x/day for 1week ± acyclovir IV 10 mg/kg 3x/day for 10 days.

Chemical conjunctivitis

Silver nitrate drops are commonly used in some parts of the world as a protective measure against ophthalmia neonatorum (Table 18.22). While effective against gonococcal disease, they are of limited use against other bacteria and are of no use against Chlamydia or viruses. In most neonates the drops cause red, watery eyes 12–48 hours after instillation.

Conjunctivitis in the older child

Children are commonly affected by infective and allergic conjunctivitis. In the older child, it behaves in a more similar manner to adult disease: viral (p. 142), bacterial (p. 140), chlamydial (p. 144), and allergic (p. 146).

Table 18.22 Timing of onset of ophthalmia neonatorum by etiology

Chemical

<2 days

Gonococcal

1–3 days

Other bacteria

2–5 days

HSV

1–14 days

Chlamydia

4–28 days

 

 

ORBITAL AND PRESEPTAL CELLULITIS 623

Orbital and preseptal cellulitis

Orbital cellulitis may cause blindness and even death. It requires emergency assessment, imaging, and treatment under the joint care of an ophthalmologist, ENT specialist, and pediatrician. Part of the ophthalmologist’s role is to assist in differentiating orbital cellulitis from the more limited preseptal cellulitis.

Orbital cellulitis

Infective organisms include Streptococcus pneumoniae, Staphylococcus aureus, Streptococcus pyogenes, and Haemophilus influenza (previously common in younger children, but less likely if Hib vaccinated).

Risk factors

Sinus disease: ethmoidal sinusitis (common), maxillary sinusitis.

Infection of other adjacent structures: preseptal or facial infection, dacrocystitis, dental abscess.

Trauma: septal perforation.

Surgical: orbital, lacrimal, and vitreoretinal surgery.

Clinical features

Fever, malaise, painful, swollen orbit.

Inflamed lids (swollen, red, tender, warm), proptosis, painful restricted eye movements ± optic nerve dysfunction (dVA, dcolor vision, RAPD).

Complications: optic nerve compromise is the most important; also exposure keratopathy, iIOP, CRAO, CRVO.

Systemic: meningitis, cerebral abscess, cavernous sinus thrombosis, orbital or periorbital abscess.

Investigation

Temperature.

CBC, blood culture.

CT (dedicated CT for orbit and sinuses; possibly brain): diffuse orbital infiltrate with fat stranding, proptosis ± sinus opacity, orbital abscess.

Treatment

Admit for intravenous antibiotics (e.g., either floxacillin 25 mg/kg 4x/day or cefuroxime 50 mg/kg 4x/day with metronidazole 7.5 mg/kg 3x/day).

ENT specialist to assess for sinus drainage (required in up to 50%).

Preseptal cellulitis

Preseptal infection is much more common than orbital cellulitis. The main causative organisms are once again staphylococci and streptococci.

This is generally a less severe disease, at least in adults and older children (see Table 18.23). In younger children in whom the orbital septum is not fully developed, there is a high risk of progression, thus the disease should be treated similarly to orbital cellulitis.

624 CHAPTER 18 Pediatric ophthalmology

Clinical features

Fever, malaise, painful, swollen lid/periorbita.

Inflamed lids but no proptosis, normal eye movements, normal optic nerve function.

Investigation

Investigation is not usually necessary unless there is concern about possible orbital or sinus involvement (Table 18.24).

Treatment

Admit young or ill children; otherwise daily observation is sufficient until disease resolution.

Treat with oral antibiotics (e.g., floxacillin and metronidazole).

Table 18.23 Differentiating features of orbital vs preseptal cellulitis

 

Orbital

Preseptal

Proptosis

Present

Absent

Ocular motility

Painful + restricted

Normal

VA

d(in severe cases)

Normal

Color vision

d(in severe cases)

Normal

RAPD

Present (in severe cases)

Normal

 

 

 

Table 18.24 Development of paranasal sinuses

Sinus

Onset of development

Onset of adult configuration

Maxillary

In utero

Late childhood (12 years)

Sphenoidal

In utero

Puberty

Ethmoidal

In utero

Puberty

Frontal

Postnatal

Adulthood

 

 

 

CONGENITAL CATARACT: ASSESSMENT 625

Congenital cataract: assessment

Congenital cataract affects up to 1 in 4000 live births and is a significant cause of visual impairment in children. Since it is amblyopiagenic, that is likely to limit final visual outcome, this condition requires urgent expert assessment, with a view to early surgery.

Assessment

History: observed visual function, intrauterine exposure (infections, drugs, toxins, radiation), medical history (e.g., syndromes), family history (approximately 50% of bilateral cataracts are hereditary, although severity can vary between family members).

Visual function: clinical tests appropriate to age. Poor fixation, strabismus, and nystagmus suggest severe visual impairment.

Cataract density is indicated by red reflex preto post-dilation and quality of fundus view with a direct or indirect ophthalmoscope. Risk to vision is worse if the cataract is posterior, dense, axial, and >3 mm in diameter.

Cataract morphology may suggest underlying etiology.

Remainder of the eye: visual potential (check pupil reactions and optic nerve and retina, as possible), associated ocular abnormalities (may require treatment, influence surgery, or suggest underlying cause).

Systemic: numerous systemic conditions are associated with congenital cataracts (Table 18.25). Clinical examination will direct appropriate investigation.

Investigation

Coordinate with a pediatrician, but consider the following:

Urinalysis (reducing substances in galactosemia and amino acids in Lowe syndrome—this affects boys).

Serology: TORCH screen (toxoplasma, other [e.g., syphilis], rubella, CMV, HSV 1 and 2).

Biochemical profile, including glucose, calcium, phosphate.

Erythrocyte enzyme analysis, including galactokinase, G1PUT.

Karyotyping and clinical geneticist referral, e.g., if child is dysmorphic.