Pediatric Anterior Segment Diseases and Management

Hypertelorism

- Definition: as an increased distance between the inner canthi of the eyes.

- Can be a physical finding in many craniofacial syndromes, not a syndrome itself.

- During developmental phase, lesser wing of sphenoid becomes fixed -> leads to a defect mvmt. towards the midline (fixed on the outer part) >> increased IPD

Telecanthus

• Similar to hypertelorism but specifically refers to the distance between the inner canthi.

• Common in syndromes like Down Syndrome, Klinefelter Syndrome, and Turner Syndrome.

• What to do: Recognize that patient may have other co-morbidities (developmental delays, syndromic features, ophthalmic manifestations)

• Treatment: Monitoring or surgical intervention in extreme cases.

Congenital Ptosis

• Most common type of ptosis, often myogenic (muscle weakness) in nature and present at birth (but can start to develop into early ages).

• Usually idopathic

• Amblyopia Risks: Anisometropia due to induced astigmatism or visual axis obstruction.

• Surgical intervention is typically reserved for significant cases affecting vision.

Marcus Gunn Jaw Winking (interesting ptosis; Congential Trigemino-oculomotor synkinesis)

• Def: A neurogenic condition characterized by eyelid movement in response to jaw movement.

• Caused by congenital aberrant connections between the trigeminal nerve and oculomotor nerve which controls the levator palpebrae superioris

• Usually unilateral, can be bilateral

• Unlike simple congential ptosis, amblyopia risk rarely due to ptosis; Anisometropia is due to irregular astigmatism

Epiblepharon

• Congental condition involving lower eyelid (Trichiasis: misdirects the lashes towards the ocular surface)

• Common in Asians and Hispanics

• Treatment: Ocular lubricants, opilation, surgical evaluation

Dermoid Cyst

• Congenital Charistoma of the orbit: benign tumor containing normal cells (i.e hair follicles, sweat glands, sebaceous glands), but in an abnormal location

• Most common non-inflammatory orbital tumors in children

• Commonly found at the frontozygomatic suture

• Hard at the push; likely there since birth OR started growing at a few months

• 40% are Dx’d at birth

• Desciption: Painless, nontender mass; may be mobile, or affixed to bone; progressive (can induce ptosis, astigmatism, proptosis, strabismus)

• Refer to OMD asap to prevent spontaneous rupture > infection

• Early remove - smaller incision spot

• If they alr have induced astig., it doesn’t go away post-Sx so we keep watching for amblyo. risk

Capillary Hemangioma

• Congenital Harmatoma: a benign mass of disorganized tissue native to a particular anatomical location

• Correct location (vs Choriostoma)

• Most common periorbital tumor in children (commonly eyebrow or lid); red/purpleish (BV!)

• Soft and spongey » blanches with pressure

• Can induce mechanical ptosis and cause induced AST (amblyopia risk)

Limbal Dermoid

• Congenital choristoma of limbus/cornea

• Characteristic: White/yellowish solid lesions, opaque, marginally vascularized; Sporadic (hair sticking out of them)

• Goldenhar Syndrome: jaw abnormalities + ear malformations + eye dermoids

Posterior Embryotoxon (you’re doing really good! Keep it up!)

• Characteristic: Central thickening and anterior displacement of Schwalbe’s line; Around limbus of cornea

• Can be present in normal Pts

• Associated diseases: Axenfeld-Rieger syndrome, Alagille Syndrome (liver), or Velocardiofacial syndrome

• Get reall good IOP! Check for precursor for glaucoma

Axenfeld-Rieger Syndrome

• Def: autosomal dominant condition characterized by anterior segment dysgenesis and systemic abnormalities

  • Axenfeld anomaly: posterior embryotoxon and iris strands adherent to is

  • Rieger anomaly: Congenital iris abnormalities (iris hypoplasia, corectopia, and polycoria)

  • Rieger syndrome: Rieger anomaly + systemic findings (dental, facial bone defects, umbilical abnormalities, pituitary involvement) •

  • Glaucoma develops in roughly 50% of these cases

  • Cornea is usually clear, but may present with megalo or microcornea

Peter’s Anomaly

• Usually large and central

• Can be uni, mostly bilateral

Corneal Verticillata (Vortex keratopathy)

• Associated with: Amiodarone, hydroxychloroquine, chloroquine, indomethacin, and phenothiazine

• Doesn’t stain, stable with blink

• BOARDS QUESTION: Side effects from taking these medications but children won’t be taking these medications » ddx goes to Fabry’s disease

• Cannot process well so it accumulates in the body (ex. in the cornea)

• Seen in 70% of Pts with Fabry’s (X-linked female carriers may only have corneal signs of Fabry’s)

Aniridia (start of IRIS content) love u <3

• Usually autosomal dominant w/o any system involvement in the PAX-6 gene

• If first to see the Pt, do bloodwork/genetic testing to see what’s causing this

• Present in: Foveal hypoplasia → nystagmus

• Acuities range: 20/100 - 20/200

• Management: Make them comfy; co-manage with opthalmology; genetic counseling; low vision (tints/devices); refractive error/amblyopia management

Iris Coloboma

• “Typical” disease is Inferonasal quadrant

  • Due to: failure of embryonic fissure to close; lightbuld, keybold, or inverted teardrop appearance

Lisch Nodules

• Small dome-shaped, elevated lesions

• OU

• Pathoneumonic for disease NF-1

Iris Flocculus (very rare)

• Def: congenital, benign, cyst-like lesions

• Found: on papillary border or iris (develops from iris pigment epithelium, appears spherical or teardrop shapped)

Brushfield Spots

• Don’t do anything!

• Common in patients with Down Syndrome (90%)

• Can be in normal patients (24%)

Heterochromia

• smtg. is affecting melanin production in the iris - all of skin or growth on iris

Heterochromia (Congenital Horner Syndrome)

Pediatric Cataracts (beginning of Lens material) you’re sooo smart :D CHARACTERISTICS AND CAUSES

• resp. for 5-20% of blindness in children worldwide

• May be: uni/bilateral; isolated or part of systemic condition; congenital or acquired; inherited or sporadic…

• Causes: Heriditary (autosomal dominant); Trisomy 21 (Downs); Alport syn. Fabry, Wilson disease…

• Pediatric + OMD

Pediatric Cataracts (surgery & Aphakia v Pseudophakia)

• Indications for Surgery: visually sig. cataracts; >3mm central opacity; obscurring visual axis; Surgery for bilateral can be done at the same time as long as child is not put under multiple times

• Infant Aphakic Treatment (IAT) study: Infants with IOL prior to 6 months = more adverse effects

• Toddler Aphakic and Pseudophakia (TAPS) study: IOL safe > 6 months of age < 2 years of age

Pediatric Lens Submuxation

• Def: When the lens is not in its normal anatomical position = dislocated, subluxed, subluxated, luxated, ectopic (Luxed/luxated lenses = completely detached

• Systemic Conditions:

  • Marfan syndrome (abnormalities of connective tissue in cardiovascular, musculoskeletal, and ocular systems)

    • Characteristics: Tall, long limbs and fingers, flexible joints, chest deformities, scoliosis

    • Enlargements of aortic root, dilation of descending aorta, floppy mitral valve, dissecting aneurysm

    • Supertemporal “up and out”, bilateral, lens subluxation (myopic with spontaneous retinal detachment)

  • Homocystinuria

  • Ehlers-Danlos Syndrome

  • Weill-Marchesani Syndrome

• Ocular Conditions:

  • Aniridia

  • Iris Colobama

  • Trauma

  • Hereditary Ectopia Lentis

  • Congenital Glaucoma