BMC Ophthalmology最新文献

Background: Baraitser-Winter syndrome (BWS) is rare, and no previous reports have described the visual course of patients with this condition. Herein, we report the long-term visual outcomes and ocular features of a 6-year-old patient diagnosed with BWS.

Case presentation: A 6-year-old female patient visited our clinic complaining of low vision. External examination revealed mild ptosis and hypertelorism, and the patient had mild intellectual disability. Her visual acuity during the first visit was 20/100 in the right eye and 20/50 in the left eye. Cycloplegic refraction revealed compound hyperopic astigmatism that was more severe in the right eye than in the left eye. Anterior segment examination revealed an iris coloboma at the inferior margin in both eyes. Fundus examination revealed huge, inferior retinal colobomata in both eyes. The macular contours were normal on optical coherence tomography. Considering the ophthalmic features and systemic signs, the patient was recommended to undergo genetic evaluation. Whole-exome sequencing revealed a heterozygous, de novo, and likely pathogenic variant (c.502G > T; p.Gly168Cys) in actin gamma 1 (ACTG1), and the patient was finally diagnosed with BWS. To further evaluate her systemic abnormalities, examinations including brain imaging and laboratory tests, were performed. Brain magnetic resonance imaging revealed a congenital cortical malformation with pachygyria, and pure-tone audiometry demonstrated bilateral sensorineural hearing loss. Echocardiographic and kidney ultrasonographic features were normal. The patient's amblyopia was treated with eye glasses for full correction and occlusion of her left eye. After 3 years of regular follow-up after the initial diagnosis, the patient's visual acuity improved to 25/25 in both eyes. With the collaboration of pediatricians, the patient and her guardians were fully counseled on the expected symptoms and complications associated with BWS, and her long-term growth trends were being observed at the time of reporting.

Conclusions: BWS, a rare genetic disease, was diagnosed in a pediatric patient who presented with various ophthalmic signs, including ptosis, retinal colobomata, and iris colobomata. If the optic disc and macula are spared from the retinal coloboma, a favorable visual outcome may be achieved via consistent treatment for amblyopia and regular follow-up.

Background: Objectively compare the changes in ocular surface parameters in myopic patients who have undergone either SMILE or Implantable Collamer Lens (ICL V4c) surgery.

Methods: This prospective cohort study enrolled 32 patients (32 eyes) undergoing SMILE surgery and 35 patients (35 eyes) receiving ICL V4c intraocular lenses. Examinations were performed at preoperative, 1-week, 1-month, and 3-month postoperative time points. The assessments included Schirmer's I Test (SIt), First Non-Invasive Break-Up Time (First-NIBUT), Average Non-Invasive Break-Up Time (Average-NIBUT), Tear Meniscus Height (TMH), Ocular Surface Disease Index (OSDI) score, conjunctival congestion score, meibomian gland loss score, lipid layer analysis score, lid margin opening detection score, and corneal fluorescein staining (CFS) score.

Results: Repeated measures ANOVA revealed that SIT, TMH, and First-NIBUT initially decreased and then increased. At three months, SIT levels in the SMILE group were significantly lower than those in the ICL group. From the first month onward, TMH levels in the SMILE group remained significantly lower than those in the ICL group (P < 0.05). OSDI scores initially rose and then fell, with the SMILE group consistently showing higher OSDI levels than the ICL group. Conjunctival congestion scores in the SMILE group fluctuated less, while the ICL group exhibited a clear downward trend, with significant differences starting from the first week (P < 0.05). Over time, scores for meibomian gland loss, lipid layer analysis, and lid margin opening detection were all higher in the SMILE group compared to the ICL group.

Conclusions: SMILE surgery has a more pronounced and prolonged impact on the ocular surface and meibomian gland function compared to ICL implantation. Objective dry eye parameters in the ICL group recover more quickly than those in the SMILE group one month post-surgery.

Background: Monitoring for potential inflammatory events following intravitreal anti-vascular endothelial factor (VEGF) injection is crucial with the use of new agents such as aflibercept 8 mg. Despite a safety profile comparable to aflibercept 2 mg in pivotal and phase 3 studies, reporting such cases in clinical practice helps evaluate potential risk of these agents.

Case presentation: In this case series, a cluster of 8 patients manifesting acute intraocular inflammation (IOI) after intravitreal aflibercept 8 mg injection at three different centers are described. All patients developed inflammation of the vitreous and anterior chamber within 2-17 days following the injection. All subjects had previously received intravitreal anti-vascular endothelial growth factor (VEGF) therapy (ranibizumab, aflibercept 2 mg or faricimab) without injection-related complications. No signs of vasculitis, papillitis or retinitis were noted. In view of the clinical presentation, vitreous cultures were not performed. Inflammation resolved with topical steroids and non-steroidal anti-inflammatory drugs over a course of 11-24 days with excellent visual recovery.

Conclusions: We report a cluster of injection-related ocular inflammation following intravitreal aflibercept 8 mg with at present unknown cause. It underlines the need for clinical awareness to detect such cases despite the low-risk safety profile in pivotal studies.

Background: Optic disc pit (ODP) is a rare congenital anomaly of optic nerve head and is associated with maculopathy. Scleral patch graft (SPG) as a therapeutic option is recently advocated.

Methods: This is a retrospective analysis of 54 patients with ODP maculopathy who were followed up for 12 months post-operatively. The parameters assessed included best corrected visual acuity (BCVA) in LogMAR chart and central macular thickness (CMT) at baseline and at 1-, 3- and 12-months post-surgery.

Results: The mean age of presentation was 36.36 ± 15.69 years [Median 36, Interquartile range (IQR) 14.75]. 51.85% were female. 53.7% were operated in left eye. The average period of follow-up was 15.37 ± 2.34 months after surgery. The mean presenting BCVA in LogMAR chart was 0.66 ± 0.37 (Median 0.6, IQR 0.4) and average CMT was 677.46 ± 251.57µ (Median 674, IQR 276). On follow up over 1, 3 and 12 months, average BCVA were 0.74, 0.58 and 0.49 LogMAR respectively. The improvement in final BCVA was statistically significant (p = 0.016). The CMT at the corresponding follow-up periods were 461.26 ± 238.3µ (Median 435, IQR 220.5), 362.68 ± 125µ (Median 367, IQR 141) and 287.36 ± 121.9µ (Median 266, IQR 139.5). Decrease in CMT was significant at all follow up visits (p < 0.001). On assessing OCT Biomarkers, Subretinal fluid (57.4%), Intraretinal Fluid (57.4%), macular schitic cavity (79.63%), Outer Lamellar Macular hole (31.48%), Pachychoroid vessels (35.19%), Outer Retinal Layer Disruptions (24.07%) were present in various proportions on presentation. After surgery over the follow-up, retinal fluid and schitic cavities were observed to get regressed over time. Outer Lamellar Macular holes showed excellent regression after surgery over a period of time. On final visit after 1 year of surgery, complete anatomical success in terms of OCT interpretation was achieved in 16 cases (29.63%). Partial anatomical success was achieved in further 24 cases (44.44%). At least some anatomical improvement was seen in 49 patients while in 3 patients it remained almost unaltered and 2 cases worsened. Successful visual rehabilitation was achieved in 45 patients (83.33%) CONCLUSIONS: Detailed OCT based and functional analysis in this study with long-term follow-up helps to entitle the importance of scleral patch graft based surgical procedure in managing this challenging surgical condition. This article caters the largest case series with meticulous analyses of the ODP Maculopathy surgically managed using autologous scleral plug.

Background: Overproduction of IL-8 in the retina and optic nerve may affect the survival of retinal ganglion cells (RGCs) and contribute to axonal damage in glaucoma. The -251T > A functional variant in the promoter region of the IL8 gene is known to affect its transcriptional activity, as demonstrated in in vitro assays.

Methods: The present study investigates the genetic association of this polymorphism with primary glaucoma in a North Indian Punjabi cohort. A total of 226 primary open angle glaucoma (POAG), 132 primary angle closure glaucoma (PACG) patients and 424 matched controls were recruited. Genotyping was performed using the restriction length polymorphism (RFLP) method.

Results: Association analysis was done by PLINK software and appropriate corrections were applied for potential confounding variables. No significant differences in allele or genotype frequency were observed in pooled cases when compared to controls. However, after segregating the data into POAG and PACG and based on sex, significant difference was observed in the allele frequency among PACG males and control male subjects (p = 0.014, OR = 0.52, 95% CI = 0.31-0.88). The heterozygous 'AT' genotype provided 0.46 times protection for PACG among males (p = 0.028, OR = 0.46, 95% CI = 0.23-0.92). Genetic model analysis revealed that the combination of 'AT + AA' genotypes conferred protection against the development of PACG among male subjects under a dominant model (p = 0.013, OR = 0.44, 95% CI = 0.23-0.84; p_corr=0.003, OR = 0.30, 95% CI = 0.14-0.67).

Conclusions: This study suggests a genetic association of the -251T > A variant with PACG in males in the targeted population and highlights the importance of sex- specific analysis in glaucoma. The biological mechanisms underlying these differences should be further explored to better understand the observed sex bias in PACG.

Background: Reports of congenital isolated medial rectus muscle abnormalities are relatively uncommon and are seldom seen. According to our clinical experience, some rare cases of abnormalities could not be detected by clinical examination and imaging before surgical treatment, which brought difficulties to diagnosis and surgery.

Case presentation: In order to provide clinical guidance, we summarized 4 cases with congenital hypoplasia of the medial rectus muscle in our hospital recently. All the patients exhibited exotropia in the primary position. Only one patient (25.0%) exhibited clinically significant limitations of ocular movements. All the patients were identified with congenital hypoplasia of the medial rectus muscle during strabismus surgery; one patient also had hypoplasia of the lateral rectus muscle. However, abnormalities of the rectus muscles were not identified by MRI in three patients (75.0%). In terms of treatment, we enhanced the surgery amount in three patients. Good correction of exotropia was achieved in all patients.

Conclusions: Congenital hypoplasia of the medial rectus muscle is extremely rare and some cases are difficult to be detected by clinical examination or imaging. Surgeons should be aware of this condition and should actively but cautiously adjust the surgical parameters based on the patients' intraoperative status.

Purpose: This study aimed to report the clinical characteristics, surgical indications, outcomes and long-term complications of full-thickness or lamellar corneal patch grafts for various indications.

Material-method: This retrospective study included 48 eyes of 47 patients who underwent full-thickness or lamellar corneal patch keratoplasty for treatment of corneal perforation, melting and descemetocele. Patient demographics, preoperative features, best-corrected visual acuity before and after surgery, mean follow-up time, corneal graft type, long-term complications, need for additional surgery, and anatomical success were analyzed.

Results: Of the 48 eyes, 21 had corneal perforation, 21 had severe corneal melting, and six had descemetocele. Sjögren's syndrome (eight eyes, 16.7%), trauma (eight eyes, 16.7%), and limbal stem cell deficiency (eight eyes, 16.7%) were the most common indications for corneal patch grafting. The most common complications after surgery were graft melting (11 eyes, 22.9%) and glaucoma (5 eyes, 10.4%). One eye developed phthisis bulbi. Penetrating keratoplasty was performed in 8 of the 11 eyes with recurrent graft melting. All descemetocele cases were central and corneal melts were more frequently located paracentrally (p = 0.0001). Anatomical success was achieved in 39 eyes (81.2%).

Conclusion: Corneal patch grafting is a safe and effective method for maintaining ocular integrity in corneal melting and perforation that can not be closed using conventional methods. With a success rate of over 80%, corneal patch grafts can delay a larger full-thickness graft, especially in eyes with acute inflammation, until systemic therapy is effective.

Background: Thelaziasis is a zoonotic disease mainly caused by Thelazia callipaeda (Spirurida, Thelaziidae, Thelazia), which can cause mild to severe signs and lesions, such as foreign body sensation, itching, tearing, eye pain, conjunctival bleeding, conjunctivitis, corneal ulcers, and even blindness. Thelaziasis cases have been reported mainly in agricultural areas and areas with high potential for contact with domestic animals [1].

Case presentation: We report a case of Thelazia callipaeda infection in the right eye of a 41-year-old woman working in an office. The patient presented with persistent foreign body sensation, pruritus, and redness despite initial treatment with polyethylene glycol and levofloxacin eye drops. Subsequent examination revealed the presence of multiple Thelazia callipaeda worms, which were successfully removed. Postoperative treatment with gatifloxacin eye ointment resulted in significant symptom relief with no recurrence over two months.

Conclusions: This case highlights the thelaziasis in urban settings, emphasizing the need for ophthalmologists to consider parasitic infections in differential diagnosis even in well-maintained environments. Then, we provided an overview of human thelaziasis in China by mining publicly available databases from 2014 to 2023, suggesting a difference in regional distribution that warrants further epidemiological studies.

Background: Corneal subepithelial infiltrates (SEIs) are characteristic clinical findings of adenoviral keratoconjunctivitis (AKC). In eyes with SEIs, both corneal opacity and irregular astigmatism may interfere with vision. However, irregular astigmatism is often overlooked in patients with AKC. Here, we report a case of decreased vision due to irregular corneal surfaces detected by Placido ring mires in eyes with corneal SEIs after AKC.

Case presentation: An 8-year-old girl with decreased vision was referred to our clinic. She had been diagnosed with AKC two years prior by a different physician. Thereafter, she experienced recurring episodes of decreased vision, epiphora, and photophobia in both eyes. The symptoms persisted despite resolution of the corneal opacity with steroid eye drops. Despite mild corneal opacity, both eyes exhibited distorted Placido ring patterns on corneal topography. The decreased vision in both eyes was due to the irregular corneal surface caused by SEIs, rather than corneal opacity. Topical 0.1% tacrolimus eye drops were effective in treating corneal opacity and irregular corneal surfaces.

Conclusions: Our findings highlight that vision loss due to SEIs after AKC may stem from an irregular corneal surface regardless of corneal opacity severity, and the usefulness of a conventional and simple topography using Placido rings during treatment with 0.1% tacrolimus eye drops for SEIs in AKC.