CASE REPORT: We present the case of a 38-year-old multipara woman whose first trimester screening showed a normal karyotype. However, the bilateral femur and humerus length symmetrically shortened after 20 weeks. Next-generation sequencing for mutations in potential genes leading to skeletal dysplasia detected a novel de novo mutation (c.1438G > A, p.Gly480Arg) in COL2A1, causing Stickler syndrome type 1. This pathogenic mutation might impair or destabilize the collagen structure, leading to collagen type II, IX, and XI dysfunction.
CONCLUSION: We identified a novel de novo mutation in COL2A1 related to the STL1 syndrome and delineated the extent of the skeletal dysplasia disease spectrum.
METHODS: Eighty-two children with acute leukaemia were examined for ocular lesions within two days of diagnosis before starting chemotherapy. The detailed ocular examination of both eyes was carried out by the ophthalmologist irrespective of the presence or absence of eye symptoms in all cases.
RESULTS: Only 3 out of 82 children presented with eye symptoms (3.6%). However, ocular changes were found in 14 children (17%); ten with lymphoblastic and four with myeloid leukaemia. The ocular lesions observed were proptosis, intraretinal haemorrhages, white centered haemorrhages, cotton wool spots, macular haemorrhage, subhyaloid haemorrhage, vitreous haemorrhage, papilloedema, cortical blindness, sixth nerve palsy, and exudative retinal detachment with choroidal infiltration.
CONCLUSION: In view of the high prevalence of asymptomatic ocular lesions in childhood acute leukaemia, routine ophthalmic examination should be included as a part of evaluation at the time of diagnosis.
METHODS: This is a case report of a 62-year-old man who presented with bilateral GRTs and associated retinal detachment. The tear in the right eye was supero-temporal and silicone oil was used as an endotamponade. The tear in the left eye was infero-temporal and perfluorocarbon liquid was used as an endotamponade.
RESULTS: The outcome at 6 months after surgery was excellent with visual acuities of 6/6 in both eyes.
CONCLUSION: Improved availability of endotamponade agents allows repair of bilateral GRTs to be done at the same time, with good surgical outcomes.
METHODS: The comparative cross-sectional study included 66 children aged 6 to 17 years with nephrotic syndrome and healthy control seen in two tertiary centers in Malaysia. We recorded demographic data, as well as visual acuity, level of proteinuria, and the mean macular thicknesses in both groups. The mean macular thickness was measured using Stratus optical coherence tomography according to nine areas of the Early Treatment Diabetic Retinopathy Study map.
RESULTS: The mean foveal thickness was 238.15 ± 22.98 µm for children with nephrotic syndrome and 237.01 ± 22.60 µm for the control group. There was no significant difference in the mean macular thickness between the groups (p = 0.843). A significant correlation with visual acuity was observed in the superior outer macula (r = -0.41, p = 0.019), the nasal outer macula (r = -0.41, p = 0.019), and the inferior outer macula (r = -0.40, p = 0.021). There was no significant correlation between the mean macular thickness and level of proteinuria (p = 0.338), although those with higher levels of proteinuria demonstrated a trend towards increased macular thickness.
CONCLUSIONS: The mean macular thickness in children with nephrotic syndrome was similar to that of healthy children. A significant correlation between the mean thickness of the outer macular layer and the presenting visual acuity was observed. There was no correlation between the mean macular thickness and the level of proteinuria.