Congenital Keratoglobus: a Case Report
Keywords:
ASTIGMATISMO; DIAGNÓSTICO CLÍNICO; DIAGNÓSTICO DIFERENCIAL; ENFERMEDADES DE LA CÓRNEA; LENTES DE CONTACTO.; ASTIGMATISM; CLINICAL DIAGNOSIS; DIAGNOSIS, DIFFERENTIAL; CORNEAL DISEASES; CONTACT LENSES.; ASTIGMATISMO; DIAGNÓSTICO CLÍNICO; DIAGNÓSTICO DIFERENCIAL; DOENÇAS DA CÓRNEA; LENTES DE CONTATO.Abstract
Introduction: congenital keratoglobus is a bilateral disease characterized by generalized or diffuse, non-inflammatory corneal thinning. It is associated with high refractive errors and corneal fragility, which may lead to amblyopia and ocular perforation, with negative implications for the quality of life of patients and their families.
Objective: to describe the clinical features, differential diagnosis, and therapeutic options in a patient with congenital keratoglobus.
Case Report: a six-month-old male infant, with no relevant prenatal or perinatal history, was referred to pediatric ophthalmology for ocular screening. The initial examination revealed large corneas with generalized protrusion and bilateral central thinning, deep anterior chamber, and clear media. Retinoscopy showed high refractive errors, confirmed by keratometry and pachymetry, with corneal diameters of 14 mm and normal intraocular pressure. Fundus examination revealed an attached retina and an optic disc with well-defined margins. Differential diagnoses such as isolated megalocornea, keratoconus, and congenital glaucoma were ruled out based on biometry, gonioscopy, and absence of characteristic clinical signs. Genetic studies excluded association with autosomal recessive syndromes. Optical correction with rigid gas-permeable contact lenses and periodic follow-up were indicated, with parents informed about the guarded prognosis and the need for vigilance to prevent amblyopia.
Conclusions: clinical diagnosis of keratoglobus at early ages is challenging due to its similarity with other congenital ocular diseases and the patient’s limited cooperation. Early correction of the high refractive error prevents the onset of amblyopia.
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