Pterygium is a common ocular surface disorder strongly associated with ultraviolet (UV) radiation exposure and oxidative stress. Double-strand breaks (DSBs) are among the most deleterious forms of DNA damage, and their repair mainly relies on the non-homologous end joining (NHEJ) pathway, in which the DNA-dependent protein kinase (DNA-PK) complex plays a central role. This study investigated the expression of the DNA-PK complex components—DNA-PKcs, Ku70, and Ku86—in pterygium compared with healthy conjunctiva. Conjunctival tissues were obtained from six patients undergoing surgical excision of recurrent pterygium and 6 age- and sex-matched controls undergoing ocular surgery without surface disease. Protein and transcript expression of DNA-PKcs, Ku70, and Ku86 were assessed by immunofluorescence, Western blotting, and real-time PCR. Immunofluorescence revealed markedly reduced DNA-PKcs immunoreactivity in the epithelium of pterygium conjunctiva compared with marked staining in controls. Western blot analysis demonstrated a significant decrease of DNA-PKcs protein, paralleled by a 13-fold reduction of its mRNA. Similarly, Ku70 and Ku86 protein levels were dramatically reduced (by 93.5
Objectives: To evaluate whether preoperative anterior segment optical coherence tomography (AS-OCT) parameters differ according to Big Bubble (BB) formation during deep anterior lamellar keratoplasty (DALK) in patients with TGFBI-related corneal stromal dystrophies (CSD). Methods: This retrospective cohort study included 17 eyes from 12 patients undergoing DALK with an attempted BB technique. Stromal deposit depth was assessed by AS-OCT using both a categorical depth-based classification (anterior, mid-, and posterior stroma) and continuous measurements of stromal involvement (µm). The ratio between stromal involvement and the thinnest corneal point was calculated. Intraoperative data included BB success, BB type, and complications. Inter-eye correlation was accounted for in comparisons of continuous variables using linear mixed-effects models. Results: BB formation was achieved in 11 of 17 eyes (64.7%), with type 1 BB observed in all successful cases. BB success was observed in all eyes with anterior or mid-stromal involvement and in 33.3% of eyes with posterior stromal involvement. Greater stromal deposit depth and a higher stromal-depth-to-thinnest-point ratio were observed in eyes in which BB formation failed (p < 0.01). No intraoperative perforations or conversions to penetrating keratoplasty occurred. Inter-observer agreement for AS-OCT measurements was high. Conclusions: BB failure was more frequent in eyes with greater absolute and relative stromal deposit depth, as assessed by preoperative AS-OCT during DALK in TGFBI-related CSD. These AS-OCT-derived parameters may support surgical planning and improve patient selection for BB DALK in this clinical setting.
Emerging evidence underscores the central role of the retinal neurovascular unit (RNVU) in the pathogenesis of major retinal disorders, including diabetic retinopathy, age-related macular degeneration, and glaucoma. Traditionally considered as primarily vascular diseases, these conditions are now increasingly recognized to involve early neurodegenerative processes that may precede vascular dysfunction. Although anti-VEGF therapies have revolutionized the treatment of neovascular retinal diseases, long-term VEGF inhibition has been associated with adverse effects, including retinal atrophy and diminished neuroprotection, underscoring the need for more targeted strategies. Recent studies have highlighted the differential roles of VEGF-A splice isoforms, particularly the pro-angiogenic VEGF-Axxxa and the anti-angiogenic VEGF-Axxxb, in maintaining RNVU homeostasis and contributing to disease progression. In parallel, neurotrophins such as nerve growth factor (NGF) and brain-derived neurotrophic factor (BDNF) have demonstrated the ability to exert neuroprotective, anti-inflammatory, and vasomodulatory effects, partly through modulation of VEGF-A signaling. Notably, we have recently demonstrated that NGF modulates VEGF-A isoform expression and VEGFR-2 levels in diabetic retinas, further supporting the hypothesis of a functional cross-talk between neurotrophins and angiogenic pathways. Based on this evidence, a new model is proposed, in which NGF and BDNF interact bidirectionally with VEGF-A to preserve RNVU integrity. This integrated therapeutic perspective, combining neurotrophic support with selective modulation of VEGF-A isoforms, may enhance treatment efficacy, reduce long-term side effects, and minimize the burden of care in chronic retinal neurodegenerative diseases.
PURPOSE:To investigate the effect of 20% autologous serum eye drops (ASED) in improving ocular surface condition and promoting corneal nerve regeneration in patients with Paralytic Lagophthalmos (PL) and Neurotrophic Keratitis (NK). METHODS:This prospective study included 11 patients with unilateral NK and PL treated with 20% ASED for 2 months. Ocular surface assessment included Schirmer I test, non-invasive tear film break-up time (NIBUT), Oxford staining score, Ocular Surface Disease Index (OSDI) and corneal esthesiometry. In vivo confocal microscopy (IVCM) was used to quantify changes in corneal subbasal nerve plexus, evaluating corneal nerve fiber length (CNFL), nerve fiber density (CNFD), and nerve branch density (CNBD). Pre- and post-treatment values were compared. RESULTS:Ten patients completed the study. ASED treatment significantly improved Schirmer I values (mean: 10.3 ± 4.7 mm to 19.7 ± 12.1 mm; p = 0.041), OSDI scores (21.1 ± 12.9 to 17.0 ± 10.0; p = 0.009), and corneal sensitivity readings (central esthesiometry: 3.4 ± 1.9 mm to 5.0 ± 1.2 mm; p = 0.005). IVCM revealed significant increases in CNFL (11.1 ± 6.4 to 14.7 ± 7.3 mm/mm²; p = 0.006) and CNFD (23.1 ± 13.2 to 33.8 ± 11.9 fibers/mm²; p = 0.012). One patient discontinued treatment due to ocular discomfort. CONCLUSION:Topical 20% ASED improved both functional and structural parameters in patients with PL and NK, suggesting neuroregenerative potential. These findings support the use of ASED as a therapeutic option in complex ocular surface disease, with IVCM as a valuable tool for monitoring nerve recovery.
Objectives: To evaluate the long-term effects on retinal structure and visual function of oral bromelain and curcumin supplementation in patients with inherited retinal dystrophies (IRD) complicated by persistent cystoid macular oedema (CMO). Methods: We retrospectively studied 20 eyes with genetically confirmed IRD complicated by CMO, with refractory to systemic or local treatments performed for 6 months. We collected baseline (V1) and follow-up (V2) data from these IRD-CMO patients, who were continuously supplemented with oral bromelain and curcumin for 12 months. Outcome measures were the Snellen best-corrected visual acuity (BCVA) and central macular thickness (CMT) values, collected by spectral-domain optical coherence tomography (OCT). Based on OCT scans, we classified IRD-CMO as microcystic or macrocystic, performing this sub-grouping in two eye cohorts (n = 10). Baseline median BCVA and CMT differences in both groups were verified (Mann-Whitney test). For both CMO groups, changes from V1 to V2 in median BCVA and CMT values were evaluated (Friedman test). Results: At baseline, both the median BCVA and CMT values were significantly different in both groups (p < 0.01 and p < 0.001). Between V1 and V2, in the microcystic CMO group, a slightly improved median BCVA was found, whereas the median CMT was reduced; however, this did not reach statistical significance (p = 0.6 and p = 0.2, respectively). In the macrocystic CMO group, a significant stable median BCVA was found from V1 to V2, with concomitant significant reduction in median CMT (p < 0.05 for both comparisons). Conclusions: Retinal structural improvement and visual function preservation were observed after oral bromelain and curcumin supplementation in macrocystic IRD-CMO. It is likely that the vasogenic component in macrocystic CMO is more responsive to nutraceutical molecules than the degenerative microcystic component.
PURPOSE:To quantify retinal vascular tortuosity and assess microvascular alterations in 22q11.2 deletion syndrome (22q11.2DS) using optical coherence tomography angiography (OCTA). METHODS:This observational cross-sectional study analyzed 108 eyes from 27 patients with 22q11.2DS and 27 age- and sex-matched controls. OCTA parameters included vascular density in the superficial and deep capillary plexuses (SCP, DCP), radial peripapillary capillaries (RPC), and foveal avascular zone (FAZ). A skeletonized vascular model was generated from 6 mm × 6 mm OCTA images of the superficial plexus after Otsu binarization using Fiji (ImageJ). The vascular tortuosity index (VTI) was computed as the ratio of total vessel length to Euclidean distance via the AnalyzeSkeleton function. A generalized estimating equation (GEE) model accounted for intra-eye correlation, and a probit regression model identified OCTA predictors of 22q11.2DS. RESULTS:OCTA revealed significantly lower vascular density in both SCP and DCP in 22q11.2DS patients. DCP density was reduced across all regions, including whole-image (p < 0.001), superior (p < 0.001), inferior (p < 0.001), and foveal regions (p = 0.020). No significant differences were found in FAZ area or RPC density. VTI was significantly higher in 22q11.2DS (p = 0.001). Probit regression identified DCP whole-image density (p = 0.009) and VTI (p = 0.028) as predictors of 22q11.2DS, with a pseudo-R² of 0.23. CONCLUSIONS:VTI was identified as a predictor of 22q11.2DS, providing an objective measure of retinal vascular tortuosity. OCTA revealed previously unrecognized microvascular alterations, supporting its use as a non-invasive tool for vascular assessment in this population.
This case-based review examines the spectrum of leukemic ocular involvement, focusing on its prognostic implications. A rare case of relapsed acute myeloid leukemia (AML) in a 63-year-old man is presented, featuring simultaneous orbital proptosis, adnexal involvement, choroidal and retinal infiltration, and hemorrhagic changes affecting both the anterior and posterior segments. This constellation of findings, affecting multiple ocular structures concurrently, highlights the eye’s potential role as a sanctuary site for leukemic cells and underscores the diagnostic challenge of distinguishing direct infiltration from treatment-related or secondary vascular damage. This case, integrated with a literature review, emphasizes that multifocal ocular signs may serve as early indicators of leukemic relapse and reinforce the need for close collaboration between ophthalmologists and hematologists in guiding patient management.
AIM: To identify optical coherence tomography (OCT) features present at the diagnosis of neovascular age-related macular degeneration (nAMD) that could predict retinal atrophy (RA) and visual performance in patients treated with intravitreal aflibercept. METHODS: OCT data collected at the time of nAMD diagnosis (T0), after the first (T1) and third (T2) intravitreal aflibercept injection, and 5y post-diagnosis (T3) were analyzed. The study included 46 eyes from patients undergoing treatment. The association of OCT features with RA and visual acuity (VA) development over time were evaluated. RESULTS: Patients with RA at T3 exhibited worse VA (35.19±5.7 vs 8.90±2.3, P<0.001) and a lower rate of improvement or stability at T2 (90.48% vs 56.00%, P=0.019) and T3 (85.71% vs 8.00%, P<0.001). The development of RA at T3 was linked with type 2 macular neovascularization (MNV; 4.76% vs 36.00%, P=0.013), thinner outer nuclear layer (ONL, 88.89±7.82 µm vs 71.38±14.14 µm, P=0.033), presence of intraretinal fluid (IRF, 42.86% vs 80.00%, P=0.014), presence of IRF without subretinal fluid at T0 (SRF, 4.76% vs 32.00%, P=0.027), and reduced central foveal thickness at T3 (CFT, 190.14±22.79 µm vs 124.32±14.35 µm, P<0.001). The presence of SRF with or without IRF at the diagnosis was comparable between the two groups (90.48% vs 68.00%; P=0.084). CONCLUSION: Type 2 MNV, reduces ONL and CFT, and IRF presence at baseline may signal a higher risk of RA in treatment-naive nAMD patients, underscoring the importance of these OCT features in early risk assessment and management strategies.
Background: Despite technological advancements in cataract surgery, including Femtosecond Laser-Assisted Cataract Surgery (FLACS), postoperative dry eye disease (DED) remains a challenge, impacting patients’ quality of life. Identifying preoperative predictors of ocular discomfort could improve patient management. Methods: This exploratory prospective study compared the onset of DED symptoms and ocular surface changes after FLACS and standard cataract surgery (SCS). Twenty eyes were evaluated preoperatively and postoperatively, using Ocular Surface Disease Index (OSDI), Non-Invasive Break-Up Time (NI-BUT), Schirmer I Test, and Oxford Score. One-week OSDI was analyzed as the dependent variable using multivariable quantile regression (τ = 0.5), with baseline parameters (OSDI, Oxford score, Schirmer test, NI-BUT), age, BCVA, surgical technique, and cumulative dissipated energy (CDE) as predictors. Results: FLACS was associated with a transient worsening of OSDI at one week, which resolved by three months, whereas SCS showed a milder but more gradual increase. In multivariable analysis, baseline OSDI (β = 0.61, p < 0.001) and Oxford score (β = 5.42, p = 0.045) were independent predictors, while surgical technique and perioperative parameters were not significant. In a reduced model, both predictors confirmed their association. Subgroup analyses showed baseline OSDI as predictive only in FLACS. Conclusions: Preoperative ocular surface status emerges as the main determinant of early postoperative DED symptoms. Routine assessment of OSDI and Oxford scores may help identify at-risk patients and guide preventive strategies.
Retinopathy of Prematurity (ROP), a leading cause of blindness in preterm infants, arises from dysregulated angiogenesis and inflammation. Without timely intervention, ROP can progress to severe outcomes, including dense fibrovascular plaques and retinal detachment. MicroRNAs (miRNAs) regulate key pathways such as hypoxia response, VEGF signaling, and vascular remodeling. Studies have identified miRNAs (e.g., miR-210, miR-146a, and miR-21) as potential biomarkers and therapeutic targets. Preclinical evidence supports miRNA-based therapies (e.g., miR-18a-5p and miR-181a), targeting HIF-1α and VEGFA to mitigate neovascularization, with nanoparticle delivery systems enhancing stability and specificity. These strategies, combined with anti-VEGF agents, show significant potential for improving ROP management. While promising, miRNA therapies require validation in clinical trials to ensure safety and efficacy. This review discusses the role of miRNAs in ROP, highlighting their relevance as diagnostic and therapeutic tools.
PURPOSE:To identify the key preoperative predictors of big bubble (BB) formation during deep anterior lamellar keratoplasty in patients with corneal stromal scars (CSS). METHODS:This retrospective cohort study included consecutive patients with CSS after infective keratitis who underwent BB-deep anterior lamellar keratoplasty between January 2021 and July 2023 at a tertiary referral center. Topographic and tomographic data were collected to compare the rates and types of BB formations. Anterior segment optical coherence tomography (AS-OCT) was employed to assess the maximum depth of opacity by dividing the stroma into 3 zones of equal thickness: anterior (stage A), mid (stage B), and posterior stroma (stage C). Multivariate logistic regression analysis was performed to identify the potential preoperative predictors of bubble formation. RESULTS:Pneumatic dissection was achieved in 13 of 33 eyes (39.4%), with 11 BB type 1 eyes (33.3%) and 2 BB type 2 eyes (6.1%). According to AS-OCT grading, bubble formation was more frequent with CSS involving more superficial stromal layers ( P <0.032). In the eyes with stage C, bubble formation failed 12 out of 14 times (85.7%, P <0.026). Spearman correlation showed that bubble formation was inversely associated with the AS-OCT grading (rho = -0.443, P = 0.001). After logistic regression analysis, AS-OCT grading was found to be the sole factor that predicted bubble formation (coeff. -1.58, confidence interval 95% -3.03 to -0.12, P = 0.034). CONCLUSIONS:Depth of opacity in CSS was the key determinant for predicting the success of pneumatic dissection, as advanced AS-OCT stages are strongly associated with BB failure.
Cutibacterium acnes endophthalmitis is a subtle, indolent infection that typically follows cataract extraction with intraocular lens implantation. Ill-defined symptoms, false-negative cultures, and uncoordinated surgical interventions contribute to a prolonged disease course and poor visual outcomes. A comprehensive literature review spanning from 1986 to September, 2024, evaluated the management of C. acnes infections after intraocular surgeries. The primary outcome was improvement in best corrected visual acuity (BCVA). Secondary outcomes included BCVA, retreatments, follow-up duration, and complications stratified by primary surgical intervention. Of the 684 screened articles, 9 retrospective case series were included. Meta-analysis demonstrated significant visual improvement after surgeries (mean difference (MD): 0.62, 95 % CI: 0.15-1.09, p = 0.01). Pars plana vitrectomy (PPV) and PPV combined with IOL removal as first-line approaches yielded superior BCVA outcomes (MD: 0.70, 95 % CI 0.41-1.09, p < 0.00001). PPV-related treatments required fewer retreatments (Odds Ratio (OR): 8.85, 95 % CI: 3.29-23.83, p < 0.0001), but involved longer follow-up duration (MD: -6.53, 95 % CI: -9.57 to -3.49, p < 0.0001). Due to limited data, complications could not be analyzed. The findings suggest that PPV-related treatments significantly improve visual recovery and reduce recurrence rates, albeit with the need for extended follow-up.
Glucagon-like peptide-1 receptor agonists (GLP-1RAs) have emerged as cornerstone therapies for type 2 diabetes mellitus and obesity, offering significant cardiovascular and renal protection. However, recent evidence has sparked interest and concern regarding their potential ocular effects. This review critically synthesizes current data on the impact of GLP-1RAs on diabetic retinopathy (DR), nonarteritic anterior ischemic optic neuropathy (NAION), age-related macular degeneration (AMD), and glaucoma or ocular hypertension. While preclinical studies suggest GLP-1RAs exert anti-inflammatory and neuroprotective effects in retinal tissues, clinical data remain mixed. Several large observational studies suggest a protective role against DR and glaucoma, while others raise safety concerns, particularly regarding semaglutide and NAION. Evidence on AMD is conflicting, with signals of both benefit and risk. We also discuss plausible pathophysiological mechanisms and the relevance of metabolic modulation on retinal perfusion. Overall, while GLP-1RAs hold promise for ocular protection in some contexts, vigilance is warranted, especially in patients with pre-existing eye disease. Further ophthalmology-focused prospective trials are essential to clarify long-term safety and guide clinical decision making.
AIM:The use of upper eyelid lipofilling to prevent ocular complications in patients affected by facial nerve palsy is compared to other treatment options. CASE PRESENTATION:Ten patients treated with lipofilling of the upper eyelid, who were indicated for facial rehabilitation were identified from the Maxillo-facial Surgery Unit, Policlinico Umberto I. For all patients, fat harvested from the abdomen was processed with soft and short centrifugation. RESULTS:Satisfactory aesthetical and functional results were obtained in most cases. All patients reported a considerable reduction in the use of artificial tear drops and ointment for corneal lubrication. A second procedure was needed in one case to refill the eyelid, and in another one to correct poor aesthetical results. No patients developed postoperative ocular surface disorders. CONCLUSIONS:The lipofilling of the upper eyelid procedure was easy to perform, leading to minimal complications rate. Given the small sample size and variability of samples collected in the current study, future studies involving larger cohorts are required to validate the efficacy of upper eyelid lipofilling in comparison to other treatments.
Abstract Background To assess anatomical and functional outcomes of retrolental cohesive ophthalmic viscoelastic injection (“Viscolift technique”) in patients with severely subluxated cataracts. Methods In the present prospective study, we included patients older than 18 years with severely subluxated cataracts and phacodonesis. Full medical history was obtained at the baseline ophthalmological assessment. A single 25-gauge valved trocar was inserted 4 mm from the limbus and a 27G angled cannula was introduced through the trocar into the retrolental space, while cohesive viscoelastic was progressively injected, in order to center and elevate the cataract to facilitate capsulorhexis. After complete phacoemulsification, a 3-piece intraocular lens (IOL) with a scleral fixated Cionni ring or FIL-SSF scleral fixated IOL was implanted. Patients follow-up interval was 6 months after surgery. Results Thirteen eyes of 13 patients were enrolled in the study, mean age was 61.5 ± 9.4 years and 53.8% were females. The “Viscolift technique” resulted in centered and more stable cataracts in all cases (100%). After complete phacoemulsification, 61.5% of patients were implanted with a 3-piece IOL with Cionni ring, and 38.5% with a FIL-SSF scleral fixated IOL after complete 25G vitrectomy. Mean BCVA improved from 0.5 ± 0.1 LogMar (20/63 Snellen) to 0.1 ± 0.1 LogMar (20/25 Snellen) (p < 0.001) at the last follow-up. No major complications were noted. Conclusions The “Viscolift technique” proved to be a safe and effective surgical approach for recentering and elevating subluxated cataracts, thus allowing the surgeon to perform an easier and better-centered capsulorhexis.
The neuropeptide Substance P (SP) and its preferred Neurokinin1 Receptor (NK1R) are known to participate in the physiopathology of neurodegenerative diseases and mainly exert a neuroprotective role. In the present work, we have described the involvement of SP and NK1R in Amyotrophic Lateral Sclerosis (ALS). This was demonstrated by the detection of altered levels of SP in the brain, spinal cord and cerebrospinal fluid (CSF) of patients and preclinical models of ALS, and by its ability to inhibit excitotoxicity-induced neurodegeneration in ALS animal models. These data are supported by results indicating an excitatory effect of SP at the motor neuron (MN) level, which promotes locomotor activity. ALS patients are characterized by a differential susceptibility to MNs degeneration, since sphincters and extraocular muscles are classically spared. It is hypothesized that SP may play a role in the maintenance of the ocular system and the innervation of the pelvic floor by contributing directly or indirectly to the selective resistance of this subset of MNs.
PURPOSE:To validate the use, repeatability, and reproducibility of a new, cost-effective, disposable, sterile device (KeraSenseⓇ, Dompè farmaceutici SpA, Milan Italy) compared to Cochet-Bonnet (CB) esthesiometer. Secondly, to identify a simple, safe, rapid, and low-cost test to diagnose neurotrophic keratitis (NK). METHODS:16 patients with diagnosis of NK stage I, 25 patients with diabetes mellitus (DM), and 26 healthy subjects were included in the study. Corneal sensitivity (CS) was assessed by CB and KeraSenseⓇ. Repeatability, accuracy, and reproducibility of the novel disposable aesthesiometer were assessed. Specificity, sensitivity, and cut-off value for NK diagnosis were calculated by ROC curve analysis. RESULTS:All NK patients showed a CS ≤ 40 mm, while none of the healthy patients showed a CS value < 50 mm. Significant agreement was found between CB measurements and the single use esthesiometer evaluations of CS (p < 0.001). Repeatability evaluations of the single use esthesiometer showed 100% agreement between different measurements (p < 0.001). Reproducibility evaluations showed 99.6% concordance between different operators (p < 0.001). A 55 mm value of the single use esthesiometer was adequate to exclude an NK diagnosis, while all NK patients showed a value ≤ 35 mm. CONCLUSIONS:Corneal hypo/anaesthesia is considered the hallmark of NK. The use of the novel single-use esthesiometer will allow for a diagnostic improvement in NK, sparing time and guaranteeing patients' safety. Diabetic patients despite normal corneal findings may show impairment of CS, suggesting a preclinical stage of NK, requiring a close follow-up.
Background: Mooren’s ulcer (MU) is a rare and debilitating form of peripheral ulcerative keratitis (PUK), characterized by a crescent-shaped ulcer with a distinctive overhanging edge at the corneal periphery. If left untreated, MU can lead to severe complications such as corneal perforation and blindness. Despite various treatment approaches, including anti-inflammatory and cytotoxic drugs, as well as surgical interventions, there is no clear evidence of the most effective treatment due to the lack of randomized controlled trials. AS-OCT is a non-invasive imaging technique that provides high-resolution cross-sectional images of the anterior segment, allowing for accurate evaluation of corneal ulcer characteristics, including depth, extent, and disease progression. Methods: We present the case of a 20-year-old male patient with MU managed using a stepladder approach, which included local and systemic corticosteroids, limbal conjunctival resection, and Cyclosporine A 1% eye drops. The patient underwent consecutive AS-OCT examinations and strict follow-up to tailor systemic and topical therapy. Results: Complete healing of the corneal ulcer with resolution of the inflammatory process was achieved. There was no recurrence of the disease at the 7-month follow-up. AS-OCT demonstrated progressive reorganization and thickening of the stromal tissue until the complete recovery of stromal thickness. Conclusions: The AS-OCT imaging modality allowed for the accurate evaluation of corneal ulcer characteristics, facilitating informed decision-making regarding the use of systemic immunosuppression, surgical interventions, and local immunomodulation and providing detailed and precise assessment of disease progression. This approach enabled a tailored and effective treatment strategy for the patient and played a critical role in guiding the therapeutic approach.
PURPOSE:To identify preoperative predictors of big bubble (BB) formation during deep anterior lamellar keratoplasty (DALK) in patients with keratoconus (KC). METHODS:DESIGN: Retrospective cohort study in an Italian tertiary centre. STUDY POPULATION:Consecutive patients with KC undergoing DALK from January 2021 to July 2023. OBSERVATION PROCEDURE:Tomographic and topographic data including K-max, K-mean, keratometric astigmatism, thinnest point, mean peripheral corneal thickness, difference between the mean peripheral corneal thickness and the thinnest point (peripheral-minimal corneal thickness), position (central/paracentral) and cone area (%), Amsler-Krumeich classification and anterior segment optical coherence tomography (AS-OCT) analysis to assess the severity stage. MAIN OUTCOME MEASURES:Rate of BB formation and type; multivariate logistic regression analysis was used to analyse all preoperative parameters in patients with BB formation versus failure. RESULTS:Pneumatic dissection succeeded in 98 of 140 eyes (70.0%), with 94 type 1 bubbles (67.1%) and four type 2 bubbles (2.9%). BB formation succeeded more frequently in patients with lower K-max (p=0.032), lower K-mean (p=0.010), higher thinnest point (p=0.017), lower peripheral-minimal corneal thickness (p=0.009) and lower Amsler-Krumeich stages (p=0.021). According to the AS-OCT analysis, BB formation was more frequent in the lower stages (p<0.001). After the logistic regression (pseudo-R²=0.176, constant=3.21, 95% CI 1.14 to 5.29, p=0.002), AS-OCT classification was found to be the only factor that predicted BB formation (coefficient=-0.81, 95% CI -1.18 to -0.43, p<0.001). CONCLUSIONS:AS-OCT classification is a reliable predictor for BB formation. Tomographic and topographic analyses indicated that a steeper and more ectatic cornea is more prone to BB failure.
Fabry disease (FD) is a rare X-linked lysosomal storage disorder with a broad spectrum of clinical manifestations, including severe complications, such as end-stage renal disease, hypertrophic cardiomyopathy, and cerebrovascular disease. Enzyme replacement therapy (ERT), when initiated early, has been shown to reduce the incidence of severe events and slow disease progression. In the classic form, characterized by the absence of α-galactosidase A (α-Gal A) enzyme activity, diagnosis is straightforward. However, when residual activity is present, the delayed and less obvious presentation can make diagnosis more challenging. Ophthalmological alterations, which can be detected through non-invasive examinations may play a crucial role in correctly assessing the patient in terms of diagnosis and prognosis, particularly in these atypical cases. Recognizing these ocular signs allows for timely intervention with ERT, leading to improved patient outcomes. This review highlights the importance of ophthalmological findings in FD, emphasizing their role in diagnosis and treatment planning. By raising awareness among ophthalmologists and healthcare specialists, this review aims to improve disease management, offering tools for early detection and better long-term prognosis in patients with FD.