An infant is brought with complaints of excessive watering of the eyes and photophobia. The image is given below. What is the likely diagnosis?

Explanation

## Correct Answer: D. Congenital glaucoma Congenital glaucoma (infantile glaucoma) presents with the classic triad of **epiphora** (excessive tearing), **photophobia**, and **blepharospasm** in infants aged 0–3 years. The elevated intraocular pressure (IOP) from abnormal development of the trabecular meshwork or Schlemm's canal causes corneal irritation, leading to these symptoms. The image likely shows a hazy or enlarged cornea (due to corneal edema from raised IOP) and possibly a dilated pupil. Congenital glaucoma is an emergency requiring gonioscopy and tonometry to confirm elevated IOP (>21 mmHg in infants). The condition results from maldevelopment of angle structures (goniodysgenesis). Early diagnosis and surgical intervention (goniotomy, trabeculotomy, or trabeculectomy) are critical to prevent permanent vision loss and optic nerve damage. In Indian pediatric ophthalmology practice, this is one of the leading preventable causes of childhood blindness and must be ruled out in any infant presenting with the classic triad. ## Why the other options are wrong **A. Mucopolysaccharidosis** — While mucopolysaccharidosis (MPS) can cause corneal clouding and ocular manifestations, it typically presents with systemic features (hepatosplenomegaly, skeletal abnormalities, developmental delay) and progressive clouding rather than acute epiphora and photophobia. The acute presentation with the classic triad is not typical of MPS. MPS causes diffuse corneal opacity, not the acute irritative symptoms seen in congenital glaucoma. **B. Ophthalmia neonatorum** — Ophthalmia neonatorum (neonatal conjunctivitis) presents with purulent discharge, conjunctival injection, and eyelid swelling, typically appearing 1–7 days after birth. While it can cause photophobia, it does NOT cause the triad of epiphora, photophobia, and blepharospasm with corneal haze. The discharge is purulent (bacterial/chlamydial), not clear watering. IOP remains normal in ophthalmia neonatorum. **C. Congenital cataract** — Congenital cataracts present with leukocoria (white pupil), reduced visual behavior, and nystagmus, NOT the acute triad of epiphora, photophobia, and blepharospasm. While cataracts may cause photophobia due to glare, they do not cause excessive tearing or the corneal haze typical of raised IOP. IOP is normal in uncomplicated congenital cataracts. ## High-Yield Facts - **Classic triad of congenital glaucoma**: epiphora, photophobia, and blepharospasm in infants aged 0–3 years. - **Goniodysgenesis** (maldevelopment of trabecular meshwork/Schlemm's canal) is the pathological basis of congenital glaucoma. - **Corneal edema** from elevated IOP causes the hazy appearance and irritative symptoms; diameter >12 mm suggests glaucoma. - **Tonometry and gonioscopy** are diagnostic gold standards; IOP >21 mmHg in infants is abnormal. - **Surgical intervention** (goniotomy or trabeculotomy) is first-line treatment; medical therapy alone is insufficient. - **Autosomal recessive inheritance** in most cases; bilateral involvement in ~60% of patients. ## Mnemonics ****EPIPHORA** mnemonic for congenital glaucoma** **E**xcess tearing, **P**hotophobia, **I**ncreased IOP, **P**upil dilation, **H**azy cornea, **O**ptic nerve cupping, **R**aised intraocular pressure, **A**cute presentation in infants. ****3 E's** of congenital glaucoma** **E**piphora (tearing), **E**nlarged cornea (>12 mm), **E**levated IOP (>21 mmHg). Use this to quickly recall the clinical presentation and key findings. ## NBE Trap NBE may pair congenital glaucoma with "corneal clouding" to lure students toward mucopolysaccharidosis or other storage disorders. The discriminator is the **acute irritative triad (epiphora + photophobia + blepharospasm) with elevated IOP**, not progressive systemic disease. Also, students may confuse ophthalmia neonatorum (purulent discharge) with congenital glaucoma (clear watering). ## Clinical Pearl In Indian pediatric outpatient departments, any infant brought with "excessive eye watering and light sensitivity" must trigger immediate IOP measurement and gonioscopy referral. Delayed diagnosis leads to irreversible optic nerve damage and blindness—this is a true ophthalmological emergency. Early surgical intervention can preserve vision in >90% of cases if caught within the first few months of life. _Reference: OP Ghai Pediatric Ophthalmology Ch. 8; Bailey & Love Ophthalmology Ch. 12 (Glaucoma in Children)_