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: Thirty-five cases of highly myopic eyes with MHRD in 35 patients who underwent an initially successful vitrectomy with macular plug and were followed up for at least 3 years were reviewed. The anatomical outcomes were evaluated by fundus examination, fundus photographs and optical coherence tomography (OCT). Myopic features after the surgery were differentiated according to recommendations of the Meta-analysis of Pathologic Myopia (META-PM) Study Group. The best-corrected visual acuities (BCVAs) before and after surgery were analysed as the functional outcome. Main outcome measures time-course changes in BCVA and complications.
RESULTS: The mean patient age was 61.0 ± 11.4 years. The follow-up was 45.2 ± 8.6 months (ranged from 36 to 71 months). The mean axial length was 29.3 ± 1.2 mm. All eyes demonstrated attached retina, but 2 eyes (5.7%) developed reopened macular holes until the last follow-up. Complications of postoperative rhegmatogenous retinal detachment were detected in 2 eyes (5.7%) within 1 year and retina reattached after the secondary vitrectomy. Three cases (8.6%) of prolonged subretinal fluid lasting more than 1 year were detected but finally absorbed completely. Comparing 1-3 years postoperatively, myopic features showed significant progression of myopic maculopathy category (p = 0.035). Functionally, significantly improved BCVA could be maintained postoperatively between 6 months and 3 years. However, vision of 14 eyes (40.0%) worsened within 1-3 years postoperatively, and visual deterioration was associated with progression of myopic maculopathy (p = 0.004) and pre-existing disease of glaucoma (p = 0.006).
CONCLUSIONS: A vitrectomy combined with macular plug provided favourable outcomes in the long term, over the ≥3-year follow-up period.