A Rare Case of Spondyloepiphyseal Dysplasia with Ocular Manifestations

Abstract

Spondyloepiphyseal dysplasia (SED) is a rare heterogenous form of chondrodysplasia characterized by congenital dwarfism with a short trunk and epiphyseal dysplasia in the long bones and vertebral bodies. There is a defect in type II collagen, resulting in stunted growth and premature degenerative arthropathy. We report a twelve year old child who presented with polyarthritis of knee and ankle joints, developmental delay, syndromic facies, short neck, pectus carinatum, hypertrichosis and hyperpigmentation. There were recurrent painful episodes with remissions and exacerbations. Ocular manifestations in our patient included prominent eyeballs, telecanthus, euryblepharon, myopia, vitreous membranes, arcus juvenilis and xerophthalmia. SED is frequently misdiagnosed as Juvenile Idiopathic Arthritis (JIA) or Rheumatoid arthritis. The most common ophthalmic features seen in Spondyloepiphyseal dysplasia are vitreoretinopathy, myopia, corneal opacities, subcapsular cataract, subluxated lens, blepharoptosis, retinal tears and retinal detachment The constellation of systemic and ocular features have to be borne in mind to make an accurate diagnosis of this rare entity.