Pediatric Ocular Diseases Overview

Pediatric Ocular Diseases Overview

• Focus areas include adnexa, lids, lashes, anterior segment, leukocoria, retinal diseases, systemic conditions affecting the retina, optic nerve abnormalities, and nystagmus in infancy.

Adnexa, Lids, and Lashes

Facial Hemangioma

• Benign vascular tumor; bright red, flat birthmark appearing at birth or within the first two weeks.
• Common locations: face, scalp, chest, back; typically fades by age 10.
• Risk factors include Caucasian ethnicity, female gender, and prematurity.
• Complications can involve bleeding, vision blockage, pain, and infections.
• Oral Propranolol can accelerate resolution.

Nasolacrimal Duct Obstruction (NLDO)

• Occurs in about 5% of infants; commonly at the valve of Hasner.
• Symptoms include epiphora (tear overflow), usually unilateral but can be bilateral.
• Non-surgical treatments: topical antibiotics for bacterial conjunctivitis, frequent eyelid massage.
• Observation shows 66% of infants resolve NLDO without surgery; 41% over the age of one may also resolve spontaneously.

Impetigo

• Bacterial skin infection characterized by "honey-colored crusts," most prevalent in children aged 2-5.
• Common skin sites include the face, neck, and trunk; often seen in daycare children and those with eczema.
• Treatment includes topical antibiotics like mupirocin or oral antibiotics; sanitation of fomites is crucial.

Molluscum Contagiosum

• Viral skin infection mostly affects children aged 1-4; presents as flesh-colored, dome-shaped lesions with umbilicated centers.
• Tends to resolve on its own over time; treatment may involve monitoring or curettage.
• Sanitation of fomites important due to its contagious nature.

Epiblepharon

• Congenital lid condition causing eyelashes to contact cornea, more common in lower lid.
• Characterized by tight skin around eyelashes leading to irritation; treatment may include conservative measures or surgery.

Anterior Segment Conditions

Ocular Dermoid

• A choristoma (normal tissue in an abnormal location); often located inferotemporally.
• Can induce astigmatism and may lead to amblyopia; treatment involves monitoring or surgery.

Aniridia

• Caused by a mutation in the PAX6 gene; results in iris hypoplasia and associated complications including glaucoma, cataract, and optic nerve hypoplasia.
• Nystagmus can also be observed.

Peters Anomaly

• Characterized by corneal opacities due to anterior segment dysgenesis.
• Features may include shallow anterior chamber, synechiae between iris and cornea, and central corneal leukoma.
• Often accompanied by systemic and ocular associations related to PAX6.

Orbital Conditions

Orbital Cellulitis

• Symptoms include proptosis, pain, limited extraocular movements, and potential vision loss.
• Associated with symptoms of sinusitis and fever; typically requires IV antibiotic treatment.

Blepharo-Keratoconjunctivitis (BKC)

• Involves chronic inflammatory disease of eyelid margins, leading to conjunctival and corneal involvement.
• Management strategies vary according to severity and may include lid hygiene, warm compresses, and topical/oral antibiotics.

Corneal Involvement in BKC

• Requires corneal staining for assessment; treatment may involve lubrication and topical steroids based on severity.

General Management Strategies

• Topical antibiotics for bacterial infections and supportive care for various conditions.
• Regular monitoring critical for congenital conditions and obstructive issues, as outcomes can vary widely.

Definition of Leukocoria

• White pupil appearance often noted in flash photography.

Differential Diagnoses of Leukocoria

• Strabismus
• Anisometropia
• Congenital Cataract
• Persistent Fetal Vasculature
• Retinoblastoma
• Retinal Detachment
• Coloboma
• Myelinated Nerve Fiber Layer (NFL)
• Retinopathy of Prematurity
• Coats disease
• Toxocariasis
• Toxoplasmosis
• Cytomegalovirus
• Norrie’s disease
• Morning glory disc anomaly
• Incontinentia Pigmenti

Etiology of Leukocoria

• Unknown prevalence, can be inherited or associated with syndromes.
• Unilateral cases primarily have unknown origins.
• Congenital cataracts are generally inherited and mostly bilateral, but can link to:
  • Intrauterine infections
  • Metabolic disorders
  • Chromosome abnormalities and syndromes
  • Trauma and medications.

Signs and Symptoms

• Opacity of the lens detected at birth.
• May present with leukocoria, nystagmus in one or both eyes, and strabismus.
• Can lead to deprivation amblyopia if greater than 3 mm.
• No relative afferent pupillary defect (APD) observed.

Treatment Options

• Cataract extraction recommended within days to weeks.
• Post-operative treatment for amblyopia.
• Use of SilSoft contact lenses or intraocular lenses (IOL).
• Investigate potential underlying disorders; treatment may be necessary.
• If cataract is not visually significant, monitoring may be sufficient.

Infant Aphakia Treatment Study (IATS)

• Compared outcomes of contact lens (CL) vs. IOL in unilateral cataract.
• No significant vision difference between CL and IOL groups at ages 1 and 4.5.
• Approximately half of participants achieved vision of 20/200 or better.
• Higher complication rates noted in IOL group; more surgeries required.
• Both groups showed about one-third developed glaucoma.

Persistent Hyperplastic Primary Vitreous (PHPV)

• Involves failure of primary vitreous regression, usually unilateral.
• Associated with fibrous tissue attaching to lens back.
• Possible complications: vascular traction, shallow anterior chamber, microphthalmos, cataract, persistent hyaloid artery.

PHPV Treatment and Visual Outcomes

• Surgical options include cataract extraction with IOL, vitrectomy, and removal of embryonic remnants.
• Visual outcomes vary based on the treatment, with successful vision (20/50 or better) in 12.6% of cases.

Retinoblastoma

• Most common pediatric neoplasm, hereditary in 25% of cases, often bilateral.
• Presenting signs include leukocoria (56%), strabismus (20%), painful red eye (7%), and poor vision (5%).
• Treatment methods include chemotherapy, radiation therapy, laser therapy, cryotherapy, and enucleation.

Retinal Detachment

• Most frequently occurs due to trauma in pediatric cases.
• Other causes include proliferative retinopathy, high myopia, aphakia, and retinopathy of prematurity (ROP).

Coats Disease

• Characterized by peripheral retinal telangiectasia and exudation; may cause serous retinal detachment.
• More prevalent in males, typically unilateral.
• Considered idiopathic.

Toxocariasis

• Infection caused by Toxocara canis/cati resulting in retinal granuloma and severe inflammation.
• Usually unilateral and without effective treatment.

Myelinated Nerve Fibers (NFL)

• Presents as superficial white retinal lesions with feathery borders, can be unilateral or bilateral.
• Vision loss is uncommon unless the macula is affected, often associated with high myopia.

Coloboma

• Results from incomplete closure of the embryonic optic fissure, often in the inferior nasal area of the optic disc.
• Vision loss severity depends on the size and location of the coloboma.
• Increased risk of retinal detachment associated with coloboma.
• Part of CHARGE syndrome, which includes coloboma, heart defects, atrial abnormalities, growth retardation, and ear development issues.