Spectrum of ocular disease in children aged between 0 and 3 years at an Australian paediatric tertiary hospital.

BACKGROUND: Childhood ocular disease can be a significant health burden to the child, family and society. Previous studies have examined the spectrum of paediatric ocular disease presenting to tertiary hospitals; however, these studies have broader age ranges, smaller sample sizes, and are largely based in developing countries. This study aims to assess the spectrum of ocular disease in the first 3 years of life presenting to the eye department of an Australian tertiary paediatric hospital. METHODS: The records of 3337 children who had their initial presentation at the eye clinic between the age of 0 and 36 months were reviewed, spanning 6.5 years from 1st July 2012 to 31st December 2018. RESULTS: The most common primary diagnoses overall were strabismic amblyopia (6.0%), retinopathy of prematurity (5.0%) and nasolacrimal duct obstruction (4.5%). Bilateral visual impairment was more common in younger children, while unilateral visual impairment was more common in older children. The proportion of all children presenting with visual impairment was 10.3%, with 5.7% of all children presenting with bilateral visual impairment and 4.6% presenting with unilateral visual impairment. In children with visual impairment, the most common sites of primary abnormality were lens (21.4%), retina (17.3%), and cerebral and visual pathways (12.1%). The most common primary diagnoses in children with visual impairment were cataract (21.4%), strabismic amblyopia (9.3%) and retinoblastoma (6.5%). CONCLUSIONS: The spectrum of eye disease and vision impairment presenting in the first 3 years of life facilitates health care planning, greater community education about vision impairment and importance of early intervention, and guidance for appropriate resource allocation. Health systems can apply these findings to aid in early identification and intervention to reduce preventable blindness and institute appropriate rehabilitation services.

Ocular and electrophysiological findings in a patient with Sly syndrome.

BACKGROUND: Sly syndrome (Mucopolysaccharidosis Type VII) is an autosomal recessive metabolic storage disorder due to mutations in the GUSB gene encoding the enzyme beta-glucuronidase. Deficiency of this lysosomal enzyme impairs the body's ability to break down the glycosaminoglycans - dermatan, heparan and chondroitin sulphate. Coarse facial features and macrocephaly are typically seen along with bony and skeletal abnormalities, including joint contractures and short stature. Widespread involvement occurs in many other tissues including cardiopulmonary, gastrointestinal, and neurological systems. In view of the rarity of Sly syndrome the ophthalmic features have not been well described. MATERIALS AND METHODS: Case report of a 16-year-old boy with Sly syndrome with serial OCT, ocular ultrasound, and electroretinogram (ERG). RESULTS: Corneal clouding was present but there was no evidence of glaucoma or optic neuropathy. Despite no clinical evidence of retinopathy, electrophysiology showed reduced photopic and scotopic responses, particularly involving the b-wave which appears progressive. OCT showed normal foveal architecture and normal retinal nerve fiber thickness. CONCLUSION: Corneal clouding was noted in this patient and there is no evidence of glaucoma or optic neuropathy. Although retinopathy has not been previously described in Sly syndrome, the ERG changes in this patient suggest that retinopathy may be a feature of MPS VII.