Detailed Notes on Childhood Disorders and Ocular Conditions

Plan of Associations

  • Associations relevant for various conditions such as cataracts and glaucoma:

    • Isolated anomaly

    • Ocular associations: Specific and nonspecific

    • Systemic associations including CNS, musculoskeletal, hearing, renal, cardiovascular, dermatological, endocrine, infection, chromosomal, and metabolic factors.

Anterior Segment Developmental Anomalies

  • Key conditions include:

    1. Coloboma: Can be isolated or part of multisystem syndromes; failure of fetal fissure closure.

    2. Albinism: Involves neuroectodermal defects, foveal hypoplasia, strabismus and nystagmus; leads to significant visual impairment.

    3. Aniridia: Absence of the iris. Either sporadic: associated with Wilm's tumor, or not (not associated with tumour). Specific risks of glaucoma (may involve aqueous outflow), cataract, ectopia lentis, and keratopathy. Genetic - dominant. Vision depending if across visual axis. Non-specific consequences of reduced vision - strab and nystagmus.

    4. Glaucoma: Many anterior segment anomalies can lead to childhood glaucoma and its management.

    5. Anterior segment dysgenesis signs: posterior embyrotoxin (prominent Schwalbe’s line), Axenfield-Rieger syndrome (strands from the iris and holes in the iris), sclerocornea (opaqueness of sclera invades cornea), Peter’s anomaly (corneal opacities + iris strands going into the opacity).

      • Rieger’s anomaly: Defect of neural crest. Sometimes involves facial formation + iris anomalies. May be associated with glaucoma

Micro/megalocornea vs micro/buphthalmos

  • Small cornea/eyeball due to maldevelopment or shrinkage following infection/trauma

  • Large cornea/eyeball due to: maldevelopment or primary/secondary glaucoma

  • Normal corneal diameter = 11.5 +/-0.5mm

Photophobia

  • Pigmentation: Blonde, albinism

  • Anterior segment disorders: Corneal problems: light scatter, uveitis/aniridia/albinism, glaucoma, cataract

  • Retinal conditions: Albinism, achromatopsia, retinitis pigmentosa, CNS (meningitis and migrane)

Glaucoma Details

  • Types of glaucoma:

    • Primary (infantile/congenital, juvenile)

      • Breaks in Descemet’s membrane frequent = opacity and are just off 180 degs (due to forcepts injury at 90 degs)

      • Isolated anomaly: Sporadic or inherited.

      • S&S: Photophobia, red eye, enlarged cornea, corneal clouding

      • Management: Primarily surgical. Refractive management. Amblyopia therapy.

    • Secondary: related to anterior segment dysgenesis (Rieger’s, aniridia), ocular disease + it’s treatment (aphakia), inflammatory, etc.

  • Symptoms of infantile primary glaucoma: Photophobia, enlarged cornea, red eye, corneal clouding.

  • Management: Usually surgical; aim to control IOP and manage refractive errors.

Cataract Overview

  • Types and Associations:

    • Sporadic cataracts are more likely unilateral. Inherited cataracts = x-linked

    • Unilateral or bilateral

    • Specific ocular associations: Anterior segment dysgenesis. Non-specific = microphthalmos

    • Systemic associations include intrauterine infections like rubella & toxoplasmosis, metabolic disorders (DM), chromosomal (Downs), steroid induced, dermatological (atopy), and renal/CNS/musculoskeletal issues, low birth weight.

  • Management:

    • In unilateral cases, surgery is contingent on age and visual function; involves extensive therapy including optical correction and patching.

    • Bilateral cataracts management includes early surgery, with postoperative optical correction being critical. If it’s small and not affecting vision, you can leave it.

    • Principle: prevention and treatment of amblyopia

    • Early surgical intervention crucial for treatment. Late surgery = cosmesis.

Ectopia Lentis

  • Can be an isolated anomaly or

  • Ocular associated: Specific: Unstable refraction, iridodenesis, stretched zonules. anterior segment dysgenesis, glaucoma or trauma. Non-specific: nystagmus, glaucoma

  • Systemic associations: Marfan’s syndrome (fibrilin defect), homocystinuria (lens becomes dislocated), Weill-Marchesani etc

  • Associated ocular anomalies include unstable refraction and risk for glaucoma. Management focuses on monitoring and corrective measures as necessary.

Anterior Uveitis in Childhood

  • Less common; juvenile idiopathic arthritis is the main cause. Symptoms can be subtle, leading to delayed diagnosis. Associated conditions: TB and Behcet’s disease and sarcoidosis. Or idiopathic

  • Signs: Band shaped keratopathy from calcium deposition, posterior synachiae

Leucocoria (white eye - retina reflects abnormally)

  • Retinoblastoma: Life threatening and treatable

  • Cataract: Sight threatening

  • Retinopathy of prematurity - end stage

  • Developmental anomalies: coloboma, corneal leucoma

  • Coat’s disease

  • Incontinentia Pigmenti

  • Trauma and vitreous haemorrhage