Congenital glaucoma is a major PG ophthalmology topic. A detailed exam answer can be organized as:
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Definitions and classification
- Primary congenital glaucoma (PCG)
- Secondary childhood glaucomas
- Primary versus secondary, and age-based classification
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Epidemiology and genetics
- Incidence, sex and laterality
- Consanguinity and inheritance
- CYP1B1, LTBP2, and TEK-related disease
- Genetic counselling
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Pathogenesis and pathology
- Angle dysgenesis or trabeculodysgenesis
- Mechanism of raised IOP, globe enlargement, corneal edema, and optic neuropathy
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Clinical presentation and signs
- Classical triad: epiphora, photophobia, blepharospasm
- Buphthalmos, megalocornea, Haab striae, corneal edema
- Optic disc cupping, refractive error, amblyopia
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Evaluation and examination under anaesthesia
- IOP measurement and its anaesthetic caveats
- Corneal diameter, axial length, pachymetry
- Gonioscopy, disc assessment, and documentation on serial follow-up
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Differential diagnosis
- Causes of tearing, photophobia, cloudy cornea, and enlarged cornea in infants
- Distinguishing PCG from secondary developmental and syndromic glaucomas
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Management
- Preoperative medical treatment and precautions
- Angle surgery: goniotomy, trabeculotomy, 360-degree trabeculotomy
- Trabeculectomy, glaucoma drainage devices, cyclodestruction in refractory disease
- Management of amblyopia and refractive error
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Prognosis, follow-up, and complications
- Prognostic factors
- Lifelong surveillance
- Surgical and visual complications
High-yield overview: PCG is an isolated developmental anomaly of the aqueous outflow pathway, classically due to trabeculodysgenesis. It presents predominantly in infancy, usually bilaterally but asymmetrically, with epiphora, photophobia, blepharospasm, corneal enlargement or haze, and buphthalmos. Elevated IOP before the sclera becomes rigid causes enlargement of the globe, cornea, and axial length. Corneal stretching produces Descemet membrane tears called Haab striae.
Diagnosis is clinical and is confirmed by a carefully planned examination under anaesthesia, including IOP, corneal diameter and clarity, axial length, gonioscopy, and optic nerve assessment. PCG is a surgical disease. When the angle is visible, goniotomy is appropriate; trabeculotomy is preferred when corneal clouding prevents adequate gonioscopic visualization. Contemporary reviews continue to regard goniotomy and conventional or circumferential trabeculotomy as first-line procedures. Medical therapy is mainly a bridge to surgery or adjunct for residual IOP elevation. Kanski's Clinical Ophthalmology, p. 415.
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