Abstract

The article presents a literature review and a case presentation of the rare and often hereditary condition «blue sclera», which is also called Lobstein – Van der Hoeve syndrome. As is known, the triad of this syndrome – blue sclera, bone pathologies and hearing impairment – is manifested in infancy. Despite its typical clinical signs, difficulty with diagnosis can cause incomplete and late clinical manifestation, in particular in adult patients. The authors emphasize associations of glaucoma process and the syndrome and confirm the fact of refractory glaucoma in blue sclera syndrome, which required maximum hypotensive therapy and subsequent radical knife surgery. Unfortunately, to date there is no effective treatment for many disabling genetic conditions, including the blue sclera syndrome and osteogenesis imperfecta. Treatment strategies for the blue sclera remain symptomatic and present real challenges; given the known and severe concomitant changes in the skeleton system and hearing, require interdisciplinary approach. There is hope that advancements obtained at the course of clinical trials will contribute to improving the treatment of these conditions. Key words: blue sclera syndrome, osteogenesis imperfecta, glaucoma, refractory to treatment, interdisciplinary approach to treatment

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