METHODS: Clinical, molecular, and glycobiological findings in three additional patients with mcEDS-DSE were investigated.
RESULTS: Three patients from two families shared craniofacial characteristics (hypertelorism, blue sclera, midfacial hypoplasia), skeletal features (pectus and spinal deformities, characteristic finger shapes, progressive talipes deformities), skin features (fine or acrogeria-like palmar creases), and ocular refractive errors. Homozygous pathogenic variants in DSE were found: c.960T>A/p.Tyr320* in patient 1 and c.996dupT/p.Val333Cysfs*4 in patients 2 and 3. No dermatan sulfate was detected in the urine sample from patient 1, suggesting a complete depletion of DS.
CONCLUSION: McEDS-DSE is a congenital multisystem disorder with progressive symptoms involving craniofacial, skeletal, cutaneous, and cardiovascular systems, similar to the symptoms of mcEDS-CHST14. However, the burden of symptoms seems lower in patients with mcEDS-DSE.
METHODS: Visual screening was conducted in 400 preschool children aged 4 to 6 years. The screening involved two basic procedures; the distant visual acuity test using the Sheridan Gardiner chart and the depth perception test using the Langs stereoacuity test. Criteria for referral were a visual acuity of 6/12 or less in the better eye or a fail in the depth perception test.
RESULTS: The prevalence of visual impairment was 5% (95% confidence interval [CI] = 3.3, 7.6). Of the 400 preschool children screened, 20 of them failed the distant visual acuity test or the stereopsis test. Refractive errors were the most common cause of visual impairment (95%, 95% CI = 76.2, 98.8); myopic astigmatism was the commonest type of refractive error (63.2%, 95% CI = 40.8, 80.9).
CONCLUSION: The study is a small but important step in the effort to understand the problem of visual impairment among our preschool children. Our study showed that it is feasible to measure distant visual acuity and stereopsis in this age group.
METHODS: A stratified two stage cluster sampling design was used to randomly select primary and secondary sampling units. Interviews, visual acuity tests, and eye examinations on all individuals in the sampled households were performed. Estimates were weighted by factors adjusting for selection probability, non-response, and sampling coverage.
RESULTS: The overall response rate was 69% (that is, living quarters response rate was 72.8% and household response rate was 95.1%). The age adjusted prevalence of bilateral blindness and low vision was 0.29% (95% CI 0.19 to 0.39%), and 2.44% (95% CI 2.18 to 2.69%) respectively. Females had a higher age adjusted prevalence of low vision compared to males. There was no significant difference in the prevalence of bilateral low vision and blindness among the four ethnic groups, and urban and rural residents. Cataract was the leading cause of blindness (39%) followed by retinal diseases (24%). Uncorrected refractive errors (48%) and cataract (36%) were the major causes of low vision.
CONCLUSION: Malaysia has blindness and visual impairment rates that are comparable with other countries in the South East Asia region. However, cataract and uncorrected refractive errors, though readily treatable, are still the leading causes of blindness, suggesting the need for an evaluation on accessibility and availability of eye care services and barriers to eye care utilisation in the country.