METHODS: Case report.
RESULTS: A 22-year-old female patient presented with a long-standing history of reduced visual acuity in her right eye. She has generalized redundant skin, downslanting of palpebral fissures, and long philtrum. Ophthalmic examination showed ptosis in her right eye and visual acuity of 20/2000 in the right eye and 20/30p in the left eye. Funduscopic examination showed a round macular scar lesion in the right eye macula and a chorioretinal scar superonasally in the left eye. Multimodal imaging showed macular atrophy in the right eye with speckled hypoautofluorescence of the described lesions. Genetic testing showed a homozygous splice acceptor variant of the ATP6V0A2 gene.
CONCLUSION: The natural history of the presented pigmentary lesions is not known, and further follow-up is needed to assess any progressive nature. Our case adds to the variability of ophthalmic manifestations reported in autosomal recessive cutis laxa type 2A and, therefore, to the importance of regular ophthalmic surveillance in patients with cutis laxa.
METHODS: A comparative cross-sectional study was conducted among children with T1DM and healthy children aged 7 to 17 years old in Hospital Universiti Sains Malaysia from 2017 to 2019. Children with retinal disease or glaucoma were excluded. Macular and RNFL thicknesses were measured using spectral-domain optical coherence tomography. Demographic information, duration of diabetes, blood pressure, body mass index, visual acuity, and retinal examination findings were documented. Glycosylated hemoglobin levels, renal function, and blood lipid levels were also collected.
RESULTS: Forty-one children with T1DM and 80 age- and sex-matched children were enrolled. Both sexes were affected. Mean duration of diabetes mellitus was 3.66 years. The mean glycated hemoglobin levels in the T1DM group was 9.99%. The mean macular and RNFL thicknesses in children with T1DM were 277.56 (15.82) µm and 98.85 (12.05) µm, respectively. Children with T1DM had a significantly thinner average macula, superior outer macula, nasal outer macula, mean RNFL, and inferior RNFL thickness compared to controls (p < 0.05). There was a significant association between nephropathy and the mean RNFL thickness.
CONCLUSIONS: Children with T1DM had significantly decreased mean macular and RNFL thicknesses. Nephropathy is associated with an increased RNFL thickness.
Methods: Light-induced damage to the retina was created by exposure of adult albino Sprague-Dawley rats to intense light for 24 hours. A single dose of Cx43MP, Cx43MP-NPs, or saline was injected intravitreally at 2 hours after onset of light damage. Fluorescein isothiocyanate (FITC)-labelled Cx43MP-NPs were intravitreally injected to confirm delivery into the retina. Electroretinogram (ERG) recordings were performed at 24 hours, 1 week, and 2 weeks post cessation of light damage. The retinal and choroidal layers were analyzed in vivo using optical coherence tomography (OCT) and immunohistochemistry was performed on harvested tissues using glial fibrillary acidic protein (GFAP), leukocyte common antigen (CD45), and Cx43 antibodies.
Results: FITC was visualized 30 minutes after injection in the ganglion cell layer and in the choroid. Cx43MP and Cx43MP-NP treatments improved a-wave and b-wave function of the ERG compared with saline-injected eyes at 1 week and 2 weeks post treatment, and prevented photoreceptor loss by 2 weeks post treatment. Inflammation was also reduced and this was in parallel with downregulation of Cx43 expression.
Conclusions: The slow release of Cx43MP incorporated into NPs is more effective at treating retinal injury than a single dose of native Cx43MP in solution by reducing inflammation and maintaining both retinal structure and function. This NP preparation has clinical relevance as it reduces possible ocular complications associated with repeated intravitreal injections.
METHODS: Sprague Dawley rats were intravitreally injected with ET1. MgAT and TAU were administered as pre-, co-, or posttreatment. Subsequently, the expression of NOS isoforms was detected in retina by immunohistochemistry, retinal nitrotyrosine level was estimated using ELISA, and retinal cell apoptosis was detected by TUNEL staining.
RESULTS: Intravitreal ET1 caused a significant increase in the expressions of nNOS and iNOS while eNOS expression was significantly reduced compared to vehicle treated group. Administration of both MgAT and TAU restored the altered levels of NOS isoform expression, reduced retinal nitrosative stress and retinal cell apoptosis. The effect of MgAT, however, was greater than that of TAU alone.
CONCLUSIONS: MgAT and TAU prevent ET1-induced retinal cell apoptosis by reducing retinal nitrosative stress in Sprague Dawley rats. Addition of TAU to Mg seems to enhance the efficacy of TAU compared to when given alone. Moreover, the pretreatment with MgAT/TAU showed higher efficacy compared to co- or posttreatment.