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: 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.
RESULTS: The diagnosis was made based on clinical findings and in addition, with the support of the evidence of Bartonella hensalae IgG and/or IgM. Small retinal white lesions were the most common ocular findings in this series of patients (82.6% of eyes, 76.9% of patients). Neuroretinitis was the second most common finding (47.8% of eyes, 69.2% of patients), followed by exudative retinal detachment involving the macula (34.8% of eyes, 53.8% of patients) and Parinaud's oculoglandular syndrome (17.4% of eyes, 23.1% of patients). Other findings like isolated optic disc oedema without macular star (8.7% of eyes, 15.4% of patients) and vitritis (4.3% of eyes, 7.7% of patients) were also observed. Ten patients (76.9%) had bilateral ocular involvement. Most of the patients were young, immunocompetent and had systemic symptoms like fever prior to their ocular symptoms. The visual acuity (VA) at initial presentation ranged from 6/6 to hand movement (mean, 6/20), and at final visit 6/6 to 6/60, (mean, 6/9). 91.7% of patients were treated with antibiotics. Only 2 patients received oral corticosteroids together with antibiotics due to very poor vision on presentation. The visual prognosis of ocular bartonellosis is generally good with 16 (88.9%) of 23 eyes having VA of 6/12 or better at final follow-up visit.
CONCLUSION: Small foci of retinal white lesions were the most common manifestation of ocular bartonellosis in this series, followed by neuroretinitis, though an array of other ocular findings may also occur. Therefore, we should consider bartonella infection as a possible differential diagnosis in those patients.