Ophthalmologic findings in patients with inborn errors of metabolism

Abstract

In patient with inborn errors of metabolism (IEM), the presence of characteristic findings in ophthalmic assessment are important for the diagnosis. The presence of cataracts, cherry-red spot, corneal opacities, corneal crystals, lens dislocation, gyrate atrophy, etc., are some of the ocular abnormalities present in certain IEM. The role of the ophthalmologist in the evaluation of patients with IEM is essential. We describe the most frequent ocular findings in patients with different IEM, which are a diagnostic aid for ophthalmologists and pediatricians.

Keywords

• errores innatos del metabolismo
• manifestaciones oftalmológicas
• enfermedades metabólicas hereditarias
• genética
• enfermedades oculares raras