Ophthalmology Spot Diagnosis: Buphthalmos

A. Synoynms: Hydrothalmos, Congenital glaucoma

B. Definiton: Buphthalmos is the enlargement of the eye due to congenital glaucoma.

C. Classification:

1. True congenital glaucoma (Increased intraocular pressure (IOP) during intrauterine life)
2. Infantile glaucoma (Birth to 3 years)
3. Juvenile glaucoma (>3 years)

D. Pathogenesis:

1. Isolated trabeculo-dysgenesis: Absence of angle recess; iris inserted directly into surface of trabeculum
   • Revealed by Gonioscopy as Barkan’s membrane
2. Flat or concave iris insertion

E. Clinical features:

1. Corneal haze: due to corneal epithelial/stromal edema

• With lacrimation, photophobia and blepharospasm

2. Buphthalmos: In birth to 3 years

• Enlarged eye due to stretching when IOP increases
• Stretched sclera – thin and translucent (appears blue)
• Deep Anterior Chamber (AC)
• Zonular fibers stretch and lens subluxate
• Axial myopia can cause amblyopia if untreated

3. Haab striae:

• Horizontal or circular curvilinear lines
• Healed breaks in Descemet’s membrane

4. Optic disc cupping may regress if treated early:

• Cup to disc ratio > 0.3
• Scleral canal enlarges
• Lamina cribrosa may bow posteriorly

Possible causes of vision loss in Buphthalmos:

1. Optic damage
2. Corneal scarring
3. Amblyopia
4. Cataract
5. Lens subluxation

F. Differential diagnoses:

1. Cloudy cornea:

• Mucopolysaccharidoses
• Birth trauma
• Congenital hereditary endothelial dystrophy
• Sclerocornea
• Keratitis (Rubella)

2. Megalocornea (Myopia)

3. Lacrimation (Nasolacrimal duct obstruction)

4. Secondary infantile glaucoma:

• Retinoblastoma
• Juvenile Xanthogranuloma
• Persistent Hyperplastic Primary Vitreous (PHPV)
• Retinopathy of Prematurity (ROP)
• Trauma
• Ectopia lentis

G. Evaluation:

1. IOP with Perkin’s tonometer/tonopen
2. Corneal diameter (to rule out megalocornea)
3. Gonioscopy with a koeppe lens
4. Retinoscopy
5. Optic disc evaluation

H. Surgical treatment:

1. Medical treatment before surgery:
   • Beta-blockers and ACE inhibitors
   • Avoid alpha 2-agonists (may cause sleep apnea and respiratory failure)
2. Goniotomy, Trabeculotomy
3. Trabeculectomy + Trabeculotomy
4. Aqueous drainage implants
5. Trans-scleral cyclophotocoagulation

I. Follow up:

1. Life-long
2. Appropriate refractive and amblyopia therapy
3. Treatment of media opacities like corneal scars and cataracts