ABSTRACT
PURPOSE: To evaluate parents' performance in using the American Association for Pediatric Ophthalmology and Strabismus (AAPOS) Vision Screening App (application) as a vision screening tool among preschool children and to evaluate the reliability of this app. METHODS: A total of 195 5- and 6-year-old preschoolers were recruited from children attending Hospital Selayang, Selangor, Malaysia, to test the app. Uncooperative children and those with visual acuity of >logMAR 0.6 were excluded. Results from parents and the screening doctor using the app (Lea symbols) to test visual acuity were compared to each other and to gold standard vision testing by an optometrist using the Lea symbols chart. RESULTS: Children 5 years of age represented 46.7% of the study population. The mean age of parents was 37.27 ± 7.68 years. Bland-Altman scatterplot agreement between assessors mainly was within the 95% confidence interval for bilateral eyes screening. Parents obtained a sensitivity of 86.6% (right vision) and 79.5% (left vision) and specificity of 78.9% (right vision) and 71.8% (left vision). Parents took a mean of 191.2 ± 70.82 seconds for bilateral screening. The intraclass correlation coefficient between optometrist and parents in bilateral eyes screening was good (P < 0.001). Cronbach's α for all three assessors was >0.7, indicating high internal reliability of the app. Most parents (178/195 [91.3%]) strongly agreed on the app's acceptability and ease of use. CONCLUSIONS: The AAPOS Vision Screening App used by parents is a promising tool for visual acuity screening among Malaysian preschool children and a reliable app for vision screening.
Subject(s)
Asian People/ethnology , Parents , Vision Screening/instrumentation , Visual Acuity/physiology , Adult , Amblyopia/diagnosis , Amblyopia/ethnology , Child , Child, Preschool , Female , Humans , Malaysia/epidemiology , Male , Middle Aged , Mobile Applications , Ophthalmology/organization & administration , Reproducibility of Results , Societies, Medical/organization & administration , Strabismus/diagnosis , Strabismus/ethnologyABSTRACT
BACKGROUND: Mucopolysaccharidosis IVA (MPS IVA) is an autosomal recessive lysosomal storage disease due to N-acetylgalactosamine-6-sulfatase (GALNS) deficiency. It results in accumulation of the glycosaminoglycans, keratan sulfate and chondroitin-6-sulfate, leading to skeletal and other systemic impairments. Data on MPS IVA in Asian populations are scarce. METHODS: This is a multicentre descriptive case series of 21 patients comprising all MPS IVA patients in Malaysia. Mutational analysis was performed by PCR and Sanger sequencing of the GALNS gene in 17 patients. RESULTS: The patients (15 females and 6 males) had a mean age (± SD) of 15.5 (± 8.1) years. Mean age at symptom onset was 2.6 (± 2.1) years and at confirmed diagnosis was 6.9 (± 4.5) years. The study cohort included patients from all the main ethnic groups in Malaysia - 57% Malay, 29% Chinese and 14% Indian. Common presenting symptoms included pectus carinatum (57%) and genu valgum (43%). Eight patients (38%) had undergone surgery, most commonly knee surgeries (29%) and cervical spine decompression (24%). Patients had limited endurance with lower mean walking distances with increasing age. GALNS gene analysis identified 18 distinct mutations comprising 13 missense, three nonsense, one small deletion and one splice site mutation. Of these, eight were novel mutations (Tyr133Ser, Glu158Valfs*12, Gly168*, Gly168Val, Trp184*, Leu271Pro, Glu320Lys, Leu508Pro). Mutations in exons 1, 5 and 9 accounted for 51% of the mutant alleles identified. CONCLUSIONS: All the MPS IVA patients in this study had clinical impairments. A better understanding of the natural history and the clinical and genetic spectrum of MPS IVA in this population may assist early diagnosis, improve management and permit timely genetic counselling and prenatal diagnosis.
Subject(s)
Mucopolysaccharidosis IV/genetics , Mucopolysaccharidosis IV/pathology , Adolescent , Adult , Child , Child, Preschool , Chondroitinsulfatases/genetics , Chondroitinsulfatases/metabolism , Cohort Studies , Female , Humans , Malaysia , Male , Mucopolysaccharidosis IV/metabolism , Young AdultABSTRACT
PURPOSE: The mucopolysaccharidoses (MPS) are a group of rare lysosomal storage disorders, characterized by the accumulation of glycosaminoglycans within multiple organ systems including the eye. This study aimed to determine the prevalence of glaucoma in patients with MPS, as well as the characteristics, diagnosis and management of patients with MPS and glaucoma. METHODS: A multicentre retrospective case-note review was carried out by ophthalmologists from four tertiary referral centres to identify patients with MPS who had been treated for glaucoma. Clinical ophthalmological data were collected using standardized data collection forms. RESULTS: Fourteen patients were identified (27 eyes) of 294 patients with MPS. The prevalence of glaucoma ranged from 2.1% to 12.5%. The median age at diagnosis of glaucoma was 8 years. Diagnostic evaluation of glaucoma was incomplete in many patients: intraocular pressure was documented in all eyes, but optic disc appearance was only assessed in 67%, central corneal thickness in 26%, visual fields in 19% and iridocorneal angle in 15%. CONCLUSIONS: Patients with MPS need regular assessment for possible glaucoma including during childhood. Multiple factors contribute to the challenges of assessment, diagnosis and monitoring of glaucoma in these patients.
