International journal of ophthalmology最新文献

Aim: To report two cases of Jalili syndrome (JS) harboring a novel mutation in the CNNM4 gene, review previously published studies on JS, and analyze factors potentially associated with visual acuity in patients with JS.

Methods: Two JS patients from a non-consanguineous Chinese family underwent comprehensive ophthalmic evaluations. Next-generation sequencing (NGS) was performed to identify pathogenic variants, and Sanger sequencing was used for validation. A literature search was conducted to retrieve studies on JS published up to January 31, 2025; only studies with detailed records of visual acuity and mutation sites were included. Correlations between visual acuity and age, as well as between visual acuity and mutation domain, were analyzed.

Results: A total of 53 patients with detailed visual acuity and mutation site records from previous studies were included in the analysis. The mean logarithm of the minimum angle of resolution (logMAR) visual acuity was 1.15 (range: 0.69-2.00). Spearman's correlation analysis showed a positive correlation between visual acuity (logMAR) and age (r_s =0.502, P<0.001). No association was found between logMAR visual acuity and mutation domain (P=0.748). The 6-year-old proband and her 3-year-old brother carried a novel homozygous missense variant c.949A>C (p.Ser317Arg) in CNNM4. Both patients presented with reduced visual acuity, pendular nystagmus, photophobia, night blindness, color vision loss, macular atrophy, and amelogenesis imperfecta. Optical coherence tomography (OCT) revealed atrophy of the outer retinal layers, and electroretinography (ERG) showed extinguished cone and rod responses. Fundus autofluorescence (FAF) and fundus fluorescein angiography (FFA) of the proband demonstrated bilateral retinal pigment epithelium (RPE) defects around the optic disc, vascular arcades, and macular region. At the latest follow-up (30mo), the proband's condition remained stable: best-corrected visual acuity was 2.00 logMAR (right eye) and 1.30 (left eye), with no changes in fundus appearance. The younger brother had a best-corrected visual acuity of 1.52 logMAR in both eyes at the latest follow-up, accompanied by severe bilateral macular atrophy and obvious dentin discoloration due to progressive enamel thinning.

Conclusion: This study reports a novel homozygous missense variant c.949A>C (p.Ser317Arg) in CNNM4 in a Chinese JS family. Visual acuity in JS patients deteriorates with increasing age.

Aim: To find the effective contrast enhancement method on retinal images for effective segmentation of retinal features.

Methods: A novel image preprocessing method that used neighbourhood-based improved contrast limited adaptive histogram equalization (NICLAHE) to improve retinal image contrast was suggested to aid in the accurate identification of retinal disorders and improve the visibility of fine retinal structures. Additionally, a minimal-order filter was applied to effectively denoise the images without compromising important retinal structures. The novel NICLAHE algorithm was inspired by the classical CLAHE algorithm, but enhanced it by selecting the clip limits and tile sized in a dynamical manner relative to the pixel values in an image as opposed to using fixed values. It was evaluated on the Drive and high-resolution fundus (HRF) datasets on conventional quality measures.

Results: The new proposed preprocessing technique was applied to two retinal image databases, Drive and HRF, with four quality metrics being, root mean square error (RMSE), peak signal to noise ratio (PSNR), root mean square contrast (RMSC), and overall contrast. The technique performed superiorly on both the data sets as compared to the traditional enhancement methods. In order to assess the compatibility of the method with automated diagnosis, a deep learning framework named ResNet was applied in the segmentation of retinal blood vessels. Sensitivity, specificity, precision and accuracy were used to analyse the performance. NICLAHE-enhanced images outperformed the traditional techniques on both the datasets with improved accuracy.

Conclusion: NICLAHE provides better results than traditional methods with less error and improved contrast-related values. These enhanced images are subsequently measured by sensitivity, specificity, precision, and accuracy, which yield a better result in both datasets.

Aim: To demonstrate the imaging findings of nonarteritic anterior ischemic optic neuropathy (NAION) using high-resolution magnetic resonance imaging (MRI) sequences.

Methods: A retrospective review of 4y of medical records and MRIs of nine patients suspected of having NAION who underwent orbit protocol MRI was conducted. The orbit MRI protocol included high-resolution three-dimensional (3D) T2-weighted imaging (HR 3D T2WI), high-resolution 3D contrast-enhanced T1-weighted imaging (HR-CE 3D T1WI), and high-resolution 3D T2-fluid-attenuated inversion recovery imaging (HR-CE 3D T2-FLAIR) and diffusion-weighted imaging, if applicable. To rule out other causes of optic neuropathy such as inflammatory optic neuritis, we evaluated the presence of optic disc swelling, contrast enhancement at the optic disc, and other abnormal findings on these sequences.

Results: Among the 715 patients, 9 were diagnosed with NAION. The median age of the patients was 62y (range, 46-79y), and five patients (56%) were men. Two of these patients demonstrated optic disc swelling on HR 3D T2WI and focal contrast enhancement on HR-CE 3D T1WI. Eight patients showed focal contrast enhancement on HR-CE 3D T2-FLAIR imaging. Among these patients, five showed a focal contrast enhancement only on HR-CE 3D T2-FLAIR imaging. The most frequent location of the focal contrast enhancement was the superomedial (n=5, 56%) followed by the medial (n=2, 22%) and central (n=2, 22%), and superior (n=1) aspects. In all three patients for whom diffusion-weighted imaging was available, there was no evidence of diffusion restriction in the optic disc.

Conclusion: This study demonstrates the imaging finding of NAION using high-resolution MRI sequences. HR-CE T2-FLAIR imaging is particularly useful in detecting NAION when combined with other high-resolution MRI sequences. It can provide additional insights into the pathophysiology of NAION, which may aid in obtaining an appropriate diagnosis and follow-up.

Aim: To investigate the postnatal development of parvalbumin (PV)-positive gamma-aminobutyric acid (GABA) interneurons and the co-expression of perineuronal nets (PNNs) and PV in the visual cortex of rats, as well as the regulatory effects of fluoxetine (FLX) treatment and binocular form deprivation (BFD) on these indices.

Methods: Wistar rats were assigned to three experimental cohorts: 1) Age-related groups: postnatal week (PW) 1, PW3, PW5, PW7, and PW9; 2) FLX treatment duration groups: FLX 0W, FLX 2W, FLX 4W, FLX 6W, and FLX 8W; 3) Intervention groups: control (Cont), FLX, BFD, and BFD+FLX. The levels of PNNs, PV, and PNNs/PV co-expression in the visual cortex were detected and analyzed.

Results: The density of PV-positive cells and the co-expression of PNNs and PV increased gradually with the maturation of the visual cortex (b=0.960, P<0.01). The ratio of PV-positive cells surrounded by PNNs to total PV-positive cells (PNNs⁺/PV⁺/total PV⁺) was significantly decreased in the FLX 4W group (χ²=9.03, P=0.003). There was no significant difference in the PNNs⁺/PV⁺/total PV⁺ ratio between the FLX and BFD groups (χ²=1.08, P=0.161), but a significant difference was observed between the BFD+FLX group and the BFD group (χ²=5.82, P<0.01).

Conclusion: The number of PV-positive neurons and PNNs-surrounded PV neurons in the rat visual cortex increases postnatally and reaches adult levels by postnatal week 7. Chronic FLX treatment downregulates these expressions. Combined 4-week FLX treatment and BFD exerts a more significant inhibitory effect on the PNNs⁺/PV⁺/total PV⁺ ratio than either intervention alone.

Aim: To evaluate whether fluid-air exchange is an effective treatment for unclosed macular hole (MH) after primary vitrectomy.

Methods: This retrospective study included patients with an unclosed MH within 1-2wk after vitrectomy. Patients were divided into the vitrectomy, fluid-air exchange, and observation groups according to the secondary treatment. The anatomical outcomes and postoperative visual acuity were recorded.

Results: The analysis included 25 eyes in 25 patients (16 females) aged 37-74y (vitrectomy group, n=10; fluid-air exchange group, n=9; observation group, n=6). Closure rate after secondary treatment was 100% in the vitrectomy group, 88.9% in the fluid-air exchange group and 33.3% in the observation group. Optical coherence tomography images obtained at the last follow-up revealed that continuity of the external limiting membrane (ELM) was significantly more common (P=0.004) in the fluid-air group (8/9 eyes, 88.9%) than in the vitrectomy group (2/10 eyes, 20.0%) and that macular morphology was better in the fluid-air group than in the vitrectomy group. No serious complications were observed after secondary treatment.

Conclusion: Fluid-air exchange is an alternative option to repeat vitrectomy for patients with an unclosed MH after initial vitrectomy with elevated macular edge.

Aim: To evaluate the effects of polarized and non-polarized sunglasses on visual functions, including distance and near visual acuity, phoria, stereopsis and contrast sensitivity across five spatial frequencies (1.5, 3, 6, 12, 18 cycles/degree).

Methods: A before-after study was conducted on 45 emmetropic students from Shahid Beheshti University of Medical Sciences. Visual acuity, contrast sensitivity, stereopsis and phoria were measured under three conditions: without sunglasses, with non-polarized sunglasses and with polarized sunglasses. Tests were conducted under controlled glare conditions to simulate outdoor environments.

Results: A total of 45 participants were evaluated, comprising 17 males (37.8%) and 28 females (62.2%). The mean age was 21.67±2.31y (range 18-27y). The mean of distance and near visual acuity in all three conditions were equal to 0.00 logMAR. Contrast sensitivity generally decreased slightly with the use of non-polarized sunglasses compared to the no-sunglasses condition. The mean stereopsis with polarized sunglasses was 101.33±56.139 arc sec, which was worse than the no-sunglasses condition (94.33±46.632 arc sec) and better than the non-polarized sunglasses condition (105.67±58.965 arc sec), although these changes were not significant. In the phoria parameter, distance phoria appeared more affected than near phoria.

Conclusion: Polarized and non-polarized sunglasses do not significantly affect visual acuity, stereopsis, or phoria under controlled glare conditions. Slight changes in contrast sensitivity are noted, but they are not statistically significant.

Retinoblastoma (RB) is the most common intraocular malignancy in children. In recent years, advancements in chemotherapy-based comprehensive treatment approaches and diagnostic technologies have significantly improved long-term survival rates, shifting treatment goals from saving lives toward preserving vision and enhancing quality of life. In major RB treatment centers in China, survival rates have reached levels comparable to those in developed countries. However, in some underdeveloped regions, RB continues to pose a serious threat to affected children. To further improve survival rates and quality of life for RB patients and their families in China, a series of essential measures should be implemented. These include strengthening public education to raise awareness of RB, enhancing diagnostic efficiency, promoting standardized treatment protocols, providing genetic counseling and prenatal assessment for high-risk populations, and fostering the training of specialized healthcare professionals.