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[Ocular problems in children with homocystinuria]
J Juszko1, J Kubalska, K Kanigowska
1Oddziału Okulistycznego Centrum Zdrowia Dziecka.
Klinika Oczna
|June 1, 1994
Summary
Homocystinuria in children causes severe myopia and lens subluxation. Surgical intervention improved vision and normalized eye pressure in most cases, though some experienced complications like glaucoma and optic nerve atrophy.
Area of Science:
- Ophthalmology
- Genetics
- Pediatrics
Context:
- Homocystinuria is a rare genetic disorder affecting connective tissues.
- Ocular manifestations are common and can lead to significant visual impairment in children.
Purpose:
- To describe the ocular findings and outcomes of surgical management in pediatric patients with homocystinuria.
Summary:
- Twelve children (3-12 years) with homocystinuria presented with severe myopia (-5.0 D to -20.0 D) and bilateral lens subluxation.
- During follow-up, lens luxation occurred in 8 eyes, with 5 cases complicated by acute glaucoma.
- Surgical treatment, primarily pars plana lensectomy, was performed on 20 eyes, resulting in normalized intraocular pressure in 4 and improved visual acuity in 16 eyes.
- One patient developed optic nerve atrophy despite surgery due to persistent elevated intraocular pressure after a cerebral infarct.
- Anterior scleral staphyloma was noted in 3 patients.
Impact:
- Highlights the critical need for early diagnosis and management of ocular complications in homocystinuria.
- Demonstrates the potential benefits and risks of surgical interventions for lens-related issues in this population.
- Underscores the long-term visual prognosis challenges associated with homocystinuria, including glaucoma and optic nerve damage.