Villafuerte-de la Cruz R, Salinas-Longoria S, Cortés-González V, Villanueva-Mendoza C

Language: Spanish
References: 13
Page: 209-213
PDF size: 393.71 Kb.

ABSTRACT

Introduction: Ehlers-Danlos syndromes (EDS) comprises a clinically and genetically heterogeneous group of heritable disorders of connective tissue. Classification recognizes 6 main subtypes. The ED type VI or kyphoscoliotic type (ED-VI) is a rare autosomal recessive inherited disease characterized by severe neonatal muscular hypotonia, kyphoscoliosis, joint hypermobility, skin fragility, osteopenia, rupture of arteries, microcórnea and scleral fragility with increased risk of eye globe rupture. This is a case report of eye globe rupture in a patient with ED-VI. Case Report: A 13-year male patient consulted with decreased visual acuity after a mild trauma in right eye. Ophthalmic examination showed in right eye: Visual acuity of light perception with no color discrimination, hypotonic eye, hyposphagma and chemosis 360°, clear cornea with a horizontal diameter of 9.8 mm, hyphema 70%, others structures were not valuable; left eye with visual acuity of 20/60, corneal horizontal diameter of 9.8 mm and lightly blue-gray sclerae, no other abnormalities were found. Systemic evaluation demonstrated smooth and hyperelastic skin, scoliosis, atrophic scars and joint hypermobility. Conclusions: In every patient with eye globe rupture associated with mild trauma we must consider the diagnosis of EDS. It is necessary to have a complete medical record and systemic evaluation.

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