• 8 SECTIONGlaucoma Pediatric

Congenital and Infantile Glaucomas

Key Facts

•Congenital glaucoma present at birth

•Infantile glaucoma appears after

•Glaucoma not consistently associated with other ocular abnormalities

•Decreased aqueous outflow due to abnormal development of drainage angle

•Represents >20% of glaucoma in childhood

•1/10 000 live births

•80% present in first year of life

•Most cases sporadic

•3 : 2 male : female ratio in the USA

•65–80% bilateral

Clinical Findings

•Buphthalmos

•Increased corneal diameter (corneal diameter >12 mm in first year of life)

•Corneal edema (Fig. 8.1)

•Haab striae, which represent breaks in Descemet’s membrane (Fig. 8.2)

•Blepharospasm

•Photophobia

•Epiphora

•Myopic shift

Ancillary Testing

•Dilated examination

•Gonioscopy

•Ultrasonography to record axial length

•Retinoscopy

•Pachymetry

Differential Diagnosis

•Lacrimal drainage system abnormality

•Megalocornea

•Birth trauma causing Descemet’s membrane tears (Volk’s striae)

•Corneal infections (acquired and congenital)

•Corneal dystrophies

•Peters syndrome

Treatment

•Goniotomy or trabeculotomy

•Older patients and those who fail initial surgeries may need trabeculectomy or glaucoma drainage devices in the future

•Hypotensive agents

Prognosis

•IOP controlled in 80% of patients with above treatments

•About 50% of patients have 20/50 vision or worse even with IOP control

Fig. 8.1 Bilateral corneal edema in an infant with glaucoma.

Fig. 8.2 Haab striae (arrow).

Glaucomas Infantile and Congenital

• 8 SECTIONGlaucoma Pediatric

Axenfeld–Rieger Syndrome

Key Facts

•Bilateral congenital anterior dysgenesis of the anterior segment

•Autosomal dominant pattern of inheritance

•Linked to chromosomes 4q25, 6p25, and 13q14

•No sex predilection

•Posterior embryotoxon present in 8–15% of normal population

•Half of patients with Axenfeld–Rieger syndrome develop glaucoma

Clinical Findings

•Prominent anteriorly displaced Schwalbe’s line termed posterior embryotoxon (Fig. 8.3)

•Peripheral iris strands (Fig. 8.4)

•Iris thinning and atrophy

•Systemic abnormalities: dental (Fig. 8.5), craniofacial, and skeletal (Fig. 8.6)

Ancillary Testing

•Goniosocopy shows peripheral anterior synechiae

•Systemic work-up

Differential Diagnosis

•Iridocorneal endothelial syndrome

•Peters anomaly

•Posterior polymorphous dystrophy

•Aniridia

Treatment

•May require goniotomy, trabeculotomy, and/or trabeculectomy

•Older patients treated with hypotensive drops and incisional surgery as needed

•Consultation of appropriate service for systemic abnormalities

Prognosis

•Success with trabeculectomy reported to be around 75% in older children and adults

•Prognosis of early onset glaucoma improves with early detection and intervention

Fig. 8.3 Posterior embryotoxon (arrows).

Fig. 8.4 Prominent peripheral iris processes.

Fig. 8.5 Abnormal dentition.

Fig. 8.6 Malformation of digits.

Syndrome Rieger–Axenfeld