Childhood Blindness: Its Diagnostic And Therapeutic Challenges In A Rare Case of Cloudy Cornea
Journal Title: Stanley Medical Journal - Year 2016, Vol 3, Issue 4
Abstract
Introduction: Childhood ocular morbidity can have a serious impact on development and quality of life . Mucopolysaccharidoses (MPS) are a heterogeneous group of rare disorders characterised by accumulation of glycosaminoglycans within multiple organ systems. They can result in ocular complication but do not necessarily manifest in the natal period. We report a rare case of cloudy cornea and its complications. Methods: We are reporting the diagnosis, treatment and follow-up period of a patient with cloudy cornea in both eyes. Clinical Picture: A 12 -year-old female patient presented to the ophthalmology department with the complaints of painless progressive loss of vision and defective night vision. On ocular examination the eyebrows were heavy , lashes were bushy, lids coarse and external ocular movements were full. Slit lamp examination showed cloudy ,white ,ground glass deposits in the central stromal and deep stromal region. The epithelium ,decements and endothelium were free of deposits. The anterior chamber, iris, pupil, lens and fundus details were not made out. Visual acuity was 6/24 for both eyes. Systemic examination showed facial dysmorphism ,skeletal dysplasia and umbilical hernia. Detailed cardiac examination showed mild mitral stenosis (MS),moderate mitral regurgitation (MR) with pulmonary hypertension (HT). The patient had moderate retardation following detailed mental state and psychosocial examination . Biochemical and Enzyme assays confirmed the mucopolysaccharidoses. The management of patient was conservative and regular follow-up by multidisciplinary team. Conclusion: Poor vision in a young patient, suffering multiple physical and intellectual problems make ocular management challenging .Multidisciplinary team management forms crucial part of their treatment plan . Provision of low vision aids, rehabilitative services and increase awareness of inherited eye diseases are the corner stones of management.
Authors and Affiliations
Tony Fredrick, Murali Ramamoorthy, Yuvaraj Jayaraman, Hema Vaithianathan, Joseph k David
Keywords
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