Developmental and Congenital Glaucomas

Developmental and Congenital Glaucomas

Developmental and Congenital Glaucomas

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Overview & Classification - Eye Development Drama

  • Developmental glaucomas: Group of disorders with ↑IOP from birth/early childhood due to abnormal aqueous outflow pathway development (trabeculodysgenesis).
  • Embryology: Primarily due to maldevelopment of neural crest cells, which form the trabecular meshwork (TM) and Schlemm's canal.
  • Classification:
    • Primary Congenital Glaucoma (PCG): Isolated trabeculodysgenesis.
    • Glaucomas with Ocular/Systemic Anomalies: e.g., Axenfeld-Rieger, Peters anomaly.
    • Secondary Developmental Glaucomas: e.g., due to phakomatoses, inflammation, trauma, tumors.

⭐ Congenital glaucomas result from developmental abnormalities of the anterior chamber angle (trabeculodysgenesis).

Development of anterior chamber angle

PCG: Features & Diagnosis - The Buphthalmos Burden

  • Etiology: Trabeculodysgenesis (maldevelopment of trabecular meshwork).
  • Genetics: Most commonly associated with CYP1B1 gene mutations.
  • Clinical Triad (📌 Mnemonic: BLEP):
    • Blepharospasm
    • Lacrimation (Epiphora)
    • Photophobia
  • Key Signs:
    • Corneal edema (hazy cornea).
    • Haab's striae (breaks in Descemet's membrane).
    • Increased corneal diameter: >12mm at 1 year, >13mm anytime.
    • Buphthalmos (enlarged globe, "ox eye").
    • Deep anterior chamber (AC).
    • Intraocular Pressure (IOP) >21 mmHg.
  • Optic Disc: Cupping, initially reversible.
  • Investigations:
    • Examination Under Anesthesia (EUA).
    • Tonometry (IOP measurement).
    • Corneal diameter measurement.
    • Gonioscopy (visualize angle structures).
    • Ophthalmoscopy (optic disc assessment).

Bilateral buphthalmos in congenital glaucoma

⭐ Haab's striae, pathognomonic for congenital glaucoma, are horizontal or circumferential breaks in Descemet's membrane due to corneal stretching.

PCG: Management - Angle Attack Plan

  • Goals: ↓IOP to safe levels, preserve vision, prevent amblyopia.
  • Medical (Bridge to Surgery):
    • Topical: β-blockers (e.g., timolol), CAIs (e.g., dorzolamide).
    • PGAs generally less effective. Avoid miotics (may ↑IOP).
    • Systemic: Acetazolamide (short-term, pre-op).
  • Surgical (Definitive):
*   If initial surgery fails or for older children: Combined Trabeculotomy-Trabeculectomy (CTT), Trabeculectomy + MMC/5-FU.
*   Refractory cases: Glaucoma Drainage Devices (GDDs).
*   Last resort: Cyclodestructive procedures.
> ⭐ Goniotomy and trabeculotomy are the primary surgical interventions for PCG, directly addressing the underlying trabeculodysgenesis.
  • Prognosis: Better with early diagnosis and surgery; lifelong monitoring essential.

Syndromic & Secondary Glaucomas - Glaucoma's Entourage

  • Axenfeld-Rieger Syndrome: PITX2/FOXC1 genes. Key signs: posterior embryotoxon, iris hypoplasia, corectopia. Glaucoma risk: ~50%.
  • Peters Anomaly: Central corneal opacity (leukoma), iridocorneal & lenticulocorneal adhesions. Glaucoma risk: ~50-70%.
  • Aniridia: PAX6 gene. Iris aplasia/hypoplasia, foveal hypoplasia, nystagmus. Glaucoma risk: ~50-75%. Axenfeld-Rieger syndrome with posterior embryotoxon
  • Sturge-Weber Syndrome: GNAQ gene. Facial port-wine stain (nevus flammeus).

    ⭐ In Sturge-Weber syndrome, glaucoma is typically ipsilateral to the facial port-wine stain and can be caused by elevated episcleral venous pressure or an anomalous angle.

  • Neurofibromatosis Type 1 (NF1): Lisch nodules (iris hamartomas), developmental angle anomaly causing glaucoma.
  • Lowe Syndrome (Oculocerebrorenal): X-linked. Congenital cataracts, renal tubular dysfunction. Glaucoma risk: ~50%.
  • Briefly: Marfan, Weill-Marchesani, Rubella_._

Juvenile OAG - Teen Tension Trouble

  • Onset: 4-35 years (Open-Angle Glaucoma).
  • Presentation: Often asymptomatic; leads to advanced optic disc cupping.
  • Management: Similar to adult POAG; more aggressive course, often needs early surgery.

⭐ Juvenile Open-Angle Glaucoma (JOAG) is strongly associated with mutations in the MYOC (myocilin) gene (Autosomal Dominant) and often presents with very high intraocular pressures.

High‑Yield Points - ⚡ Biggest Takeaways

  • PCG often bilateral; presents with Haab's striae, buphthalmos, classic triad (photophobia, epiphora, blepharospasm).
  • Most PCG: autosomal recessive, CYP1B1 gene.
  • Goniotomy/trabeculotomy are key PCG surgeries.
  • Axenfeld-Rieger syndrome: posterior embryotoxon, iris changes, glaucoma (50%); PITX2/FOXC1 genes.
  • Peters anomaly: central corneal opacity, irido/lenticulocorneal adhesions; glaucoma (50-70%).
  • Aniridia (PAX6 mutation): high glaucoma risk (50-75%), often later onset.
  • Sturge-Weber syndrome: glaucoma via ↑ episcleral venous pressure.

Practice Questions: Developmental and Congenital Glaucomas

Test your understanding with these related questions

In primary open-angle glaucoma (POAG), which of the following findings is NOT typically seen?

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Flashcards: Developmental and Congenital Glaucomas

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In _____ glaucoma intraocular pressure (IOP) is elevated between 3 and 16 years of age

TAP TO REVEAL ANSWER

In _____ glaucoma intraocular pressure (IOP) is elevated between 3 and 16 years of age

Juvenile

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