Intrascleral intraocular lens fixation with ab interno trabeculotomy in patients with exfoliation glaucoma with lens subluxation.

PURPOSE: To evaluate the surgical outcomes of intrascleral intraocular lens (IOL) fixation using ab interno trabeculotomy (LOT) in patients with exfoliation glaucoma with lens subluxation. STUDY DESIGN: Retrospective case series. METHODS: Twenty eyes of 18 patients with exfoliation glaucoma and lens or IOL subluxations were included. Three success criteria were based on postoperative intraocular pressure (IOP) (A, ≤15 mmHg; B, ≤18 mmHg; C, ≤21 mmHg). The IOP, number of glaucoma medications, and visual acuity were compared before and after surgery. Success probability was analyzed using Kaplan-Meier survival curves. Cox proportional hazards' regression models were used to examine prognostic factors for surgical failure. RESULTS: The mean follow-up period was 23.4 ± 7.8 months. The mean IOP significantly decreased from 23.2 ± 6.8 mmHg preoperatively to 14.0 ± 4.4 mmHg at 1 year postoperative (P<0.001). Postoperative hyphema and vitreous hemorrhage were observed in seven and 15 eyes, respectively, and washout in the anterior chamber or vitreous cavity was performed in four eyes. Postoperative IOP spikes and hypotony were observed in four eyes each. Glaucoma reoperation was performed in two eyes. The success rates at 12 months were 65%, 85%, and 90% using criteria A, B, and C, respectively. The IOP at 1 month after surgery was a significant prognostic factor for surgical failure according to criterion A (hazard ratio: 1.08; P=0.034). CONCLUSION: Intrascleral IOL fixation combined with microhook LOT is a promising option in cases of exfoliation glaucoma with subluxated lens/IOL; however, the high rate of postoperative hyphema and vitreous hemorrhage should be noted.

Outcome of combined trabeculectomy with cataract surgery in patients on prostaglandin analogs and aqueous suppressants.

PURPOSE: To compare the effect of prostaglandin analogs (PGA) against other glaucoma medications (non-PGA) on the intraocular pressure (IOP) outcomes of combined trabeculectomy with phacoemulsification, and the conjunctival cell profile in persons with primary open-angle (POAG) and pseudoexfoliation glaucoma (PXFG). METHODS: A prospective cohort study was conducted among 116 patients with POAG or PXFG on glaucoma medications for a minimum of 3 months undergoing glaucoma triple procedure. Patients were divided into two groups (PGA and non-PGA) based on preoperative exposure to PGA. IOP outcomes were assessed for up to 2 years. Conjunctival biopsy specimens were obtained at the time of surgery, and histopathological analysis was performed. RESULTS: Forty-two patients were in the PGA group, 67 were in the non-PGA group, and seven were lost to follow-up. The non-PGA group had lesser mean postoperative IOP and needed fewer postoperative medications compared to the PGA group in all visits up to 2 years. The non-PGA group had better complete success rate (50.7% vs. 14.3%, P < 0.001). Kaplan-Meier survival estimates showed a significant difference in cumulative complete success rate between non-PGA (67%) and PGA (26%) by 24 months ( P < 0.001). The Cox proportional model showed the type of drug to be significantly associated with surgical failure. Histopathological analysis revealed that the PGA group had higher numbers for each type of inflammatory cell (except mast cells) compared to the non-PGA group. CONCLUSION: Patients on PGA are likely to have a higher postoperative IOP and may need more medications for IOP control after a glaucoma triple procedure.

Comparison of intraocular pressure fluctuation and glaucoma progression rate between phakic and pseudophakic eyes in pseudoexfoliation glaucoma.

The management of patients with concurrent pseudoexfoliation glaucoma (PXG) and cataract is challenging given its worse prognosis compared to other glaucoma types and the increased risk associated with cataract surgery. In this retrospective study, we investigated the long-term outcomes of cataract surgery in patients with PXG. We enrolled patients with PXG who had undergone cataract surgery at least 2 years previously and compared them with mean deviation (MD) matched patients with phakic eyes. The results showed that both groups experienced a decrease in MD, with the group of pseudophakic eyes exhibiting a significantly higher rate of decline (-2.15 ± 2.66 dB/year vs. -0.86 ± 0.95 dB/year; P = 0.040). Similarly, there was a trend towards more rapid thinning of the retinal nerve fiber layer in the pseudophakic group (-2.92 ± 2.34 µm/year vs. -1.79 ± 1.71 µm/year; P = 0.074). No significant differences in the intraocular pressure parameters were observed between the two groups. Multivariate analysis revealed that pseudophakic lens status was significantly associated with a faster rate of MD decline in patients with PXG (regression coefficient, -1.391; P = 0.022). These findings underscore the importance of close monitoring of patients with pseudophakic PXG to effectively manage glaucoma progression.

Risk Factors and Frequency of Examinations for Detecting Visual Field Deterioration in Patients with Newly Diagnosed Exfoliation Glaucoma in Sweden.

PRCIS: The study identified risk factors for exfoliation glaucoma and recommended re-evaluating target intraocular pressure (IOP) after 5 visual fields to slow disease progression. PURPOSE: This study aimed to establish risk factors for exfoliation glaucoma and determine the earliest time points for estimating disease progression. PATIENTS: A total of 96 patients with newly diagnosed exfoliation glaucoma were included. Included patients were required to perform at least 7 visual field tests within a 3-year period (±3 months). All patients were treated at inclusion. METHODS: This was a nonrandomized, prospective cohort study. The predictors measured included IOP, mean deviation (MD), and visual field index (VFI). Progression was assessed using the rate of progression based on MD, VFI, and "Guided Progression Analysis." Linear or logistic regression models were developed based on the variables studied. An analysis of variance was used to establish the earliest time point. At the earliest time point, the models were retested. The area under the receiver operating characteristic curve was calculated. RESULTS: The general rate of progression of the cohort was -3.84 (±2.61) dB for the MD values and 9.66 (±6.25) % for the VFI values over 3 years. The IOP, MD, and VFI values at diagnosis were predictors of progression for both linear and logistic regression. Analysis of variance and post hoc Tukey test showed significant values at 24 months for MD and VFI. The area under the curve at 24 months showed significant values for MD and VFI. CONCLUSIONS: The predictors studied (IOP, MD, and VFI) showed moderate accuracy at baseline but excellent predictive capacity at 24 months postdiagnosis. Re-evaluating the target IOP at 24 months can effectively slow down disease progression.

Outcome of manual small incision cataract surgery in patients with pseudoexfoliation syndrome and pseudoexfoliation glaucoma.

PURPOSE: The study aimed to analyze the surgical outcome of manual small incision cataract surgery (MSICS) in patients with pseudoexfoliation syndrome (PXF) and pseudoexfoliation glaucoma (PXG) and compare them with those of controls. SETTINGS AND DESIGN: This prospective, observational, and comparative study included 150 cases of PXF with cataracts, 150 cases of PXG with cataracts, and 200 cases of cataracts without PXF as controls. METHODS: MSICS was performed in all cases under peribulbar anesthesia. Intraoperative complications, if any, were noted. Best-corrected visual acuity (BCVA), intraocular pressure (IOP), and postoperative complications were recorded at follow-up on day 1, day 7, and after 1 month. STATISTICAL ANALYSIS USED: IBM SPSS 24.0 statistics, SPSS South Asia Pvt Ltd. RESULTS: Lines of improvement in BCVA were significantly better in the control group (8.7 ± 1.7) than that in the PXF (7.5 ± 2.1) and PXG groups (6.4 ± 2.7). IOP significantly decreased from baseline to 1 month postoperatively in the PXG group than in the PXF and control groups (mean difference: 3.8 ± 7.5 mm Hg). Intraoperative iridodialysis and zonular dialysis were significantly high in the PXG group with a proportion of 4 and 20%, respectively. Postoperative choroidal detachment and hyphema, six cases each, were found significantly high in the PXG group. CONCLUSION: Although the BCVA improvement was less and the complications were high in patients with pseudoexfoliation, especially those with PXG, the reduction in IOP was significant. MSICS can be considered favorably in patients with PXF and PXG, with adequate precautions to manage anticipated complications.

The effect of uneventful cataract surgery on Schlemm's canal and the trabecular meshwork in cases with pseudoexfoliation.

PURPOSE: To evaluate the effect of uneventful cataract surgery on Schlemm's canal (SC) and the trabecular meshwork (TM) in cases with pseudoexfoliation (PX). METHODS: In this prospective study, 37 PX and 37 normal eyes, who underwent cataract surgery, were included. The PX group was further divided into two subgroups: PX syndrome (PXS) and PX glaucoma (PXG). Preoperative complete ophthalmologic examination, anterior segment (AS) imaging using a Scheimpflug camera, and measurements of SC length and area and TM thickness and length using AS optical coherence tomography (AS-OCT) were performed in all cases. All measurements were repeated at the first and third months after surgery. RESULTS: Preoperative intraocular pressure (IOP), AS parameters, SC, and TM values showed no significant differences between the groups (p > 0.05). After surgery, there was a significant increase in AS parameter values and a significant decrease in IOP values in both the PX and control groups (p < 0.05). The nasal and temporal SC area showed a significant increase in the PX group after surgery (p = 0.007, p = 0.003, respectively). In the subgroup analysis, the only significant change in the nasal and temporal SC area was in the PXS group (p = 0.006, p = 0.003, respectively). CONCLUSION: Cataract surgery resulted in an increase in the SC area in patients with PXS. This increase may be due to multiple mechanisms including the IOP-lowering effect of cataract removal, change in AS, and removal of intraocular PX material after surgery.

Evaluation of Retinal Layers in Individuals With Pseudoexfoliation Syndrome and Ocular Hypertension.

PRCIS: This study investigated the retinal segmental thicknesses in individuals with pseudoexfoliation syndrome and ocular hypertension. Maximum thinning was found at 6 mm inferior to the inner plexiform layer. This layer is very important for the early diagnosis of glaucoma. PURPOSE: To analyze the thickness of the peripapillary retinal nerve fiber layer and 8 macular layers using optical coherence tomography in eyes with ocular hypertension (OHT) and pseudoexfoliation syndrome (PXS) and healthy eyes and to evaluate between-group differences. MATERIALS AND METHODS: In a prospective study, the macular segmentation of retinal layers in 120 eyes of 120 participants was performed automatically using current Heidelberg Spectralis optical coherence tomography software, which provides measurements for 8 retinal layers. Thickness maps divided into nine subfields (ie, 1, 3, and 6 mm) were extracted from the software for each retinal layer and compared between groups. RESULTS: The thinnest macular layers appeared in the ocular hypertensive PXS, normotensive PXS, and OHT groups in that order. In the inner retinal layers (macular retinal nerve fiber layer, ganglion cell layer, and inner plexiform layer), statistically significant differences emerged between the PXS and control groups in all quadrants of the 3 and 6 mm areas. No significant difference between the OHT group and control group appeared except in the 6 mm temporal quadrant of the inner plexiform layer (IPL). Receiving operating characteristic analysis revealed quadrants with high area-under-the-curve values at 3 and 6 mm in macular segments in all 3 groups compared with the control group. CONCLUSION: In macular segment analysis, the inner retinal layers showed the most thinning in patients with ocular hypertensive PXS. According to receiving operating characteristic curve analysis, examinations performed 6 mm inferior to the IPL, as the quadrant with the highest area under the curve in all 3 groups, are critical for the early diagnosis of glaucoma.

Comparison of Patterns of Structural Progression in Primary Open Angle Glaucoma and Pseudoexfoliation Glaucoma.

PRCIS: Primary open angle glaucoma and pseudoexfoliation glaucoma showed different progression patterns of the retinal nerve fiber layer and ganglion cell-inner plexiform layer thinning in OCT-guided progression analysis. PURPOSE: To compare the patterns of progression of retinal nerve fiber layer (RNFL) and macular ganglion cell-inner plexiform layer (GCIPL) thinning by guided progression analysis (GPA) of optical coherence tomography (OCT) in primary open angle glaucoma (POAG) and pseudoexfoliation glaucoma (PXG). MATERIALS AND METHODS: The progression of RNFL and GCIPL thinning was assessed by the GPA of Cirrus HD-OCT (Carl Zeiss Meditec, Dublin, CA). By overlaying the acquired images of the RNFL and GCIPL thickness-change maps, the topographic patterns of progressive RNFL and GCIPL thinning were evaluated. The rates of progression of RNFL and GCIPL thinning were analyzed and compared between patients with POAG and those with PXG. RESULTS: Of the 248 eyes of 248 patients with POAG (175 eyes of 175 patients) or PXG (73 eyes of 73 patients) enrolled, 156 POAG eyes and 48 PXG eyes were included. Progressive RNFL thinning was significantly more common in PXG than in POAG ( P =0.005). According to the RNFL progression-frequency maps, progression appeared mainly in the superotemporal and inferotemporal areas in POAG, whereas it had invaded more into the temporal area in PXG. According to the GCIPL maps, progression was most common in the inferotemporal area in both POAG and PXG. The average progression rate of GCIPL thinning was faster in PXG than in POAG ( P =0.013), and when analyzed in 2 halves (superior/inferior), the progression rate of the inferior half was faster in PXG than in POAG ( P =0.011). CONCLUSIONS: OCT GPA showed progression patterns of RNFL and GCIPL thinning in POAG and PXG. Understanding the specific patterns of progressive RNFL and GCIPL thinning according to glaucoma type may prove helpful to glaucoma-patient treatment and monitoring.

Pigment deposits in the retrolental space of Berger: a rare feature of pigment dispersion syndrome? / Depósitos de pigmento no espaço de Berger: uma característica rara de síndrome de dispersão pigmentar?

ABSTRACT Pigment dispersion syndrome is associated with clinical features such as Krukenberg's spindles, trabecular pigmentation, Scheie's stripe and Zentmayer's ring. Another less common feature of this syndrome is retrolental pigment deposits due to anterior hyaloid detachment or a defect in the Wieger's ligament. We present two cases of pigment deposits on the posterior lens capsule. In both cases, there is bilateral dispersion of pigment throughout the anterior segment. The retrolental deposits are unilateral in the first case and bilateral in the second. Both patients report a history of ocular trauma. This is a possible important clinical sign of pigment dispersion syndrome, rarely described.

RESUMO A síndrome de dispersão pigmentar associa-se a sinais clínicos característicos como fuso de Krukenberg, hiperpigmentação da malha trabecular, linha de Scheie e anel de Zentmeyer. Um sinal menos comum dessa síndrome é o depósito de pigmento posterior ao cristalino, que ocorre por um descolamento da hialoide anterior ou um defeito no ligamento de Wieger. Apresentamos dois casos de depósitos de pigmento posterior à cápsula posterior do cristalino. Em ambos os casos, existia dispersão bilateral de pigmento por todo o segmento anterior. No primeiro caso, os depósitos eram unilaterais e, no segundo, estavam presentes em ambos os olhos. Este pode corresponder a um sinal potencialmente importante da síndrome de dispersão pigmentar, raramente descrito.

Comparison between primary Ahmed valve implantation and primary trabeculectomy with mitomycin C in pseudophakic patients with exfoliative glaucoma.

PURPOSE: To compare the efficacy and safety of primary Ahmed valve implantation (AVI) and primary trabeculectomy with mitomycin C (MMC) in patients with pseudophakic exfoliative glaucoma (XFG). METHODS: All enrolled patients were divided into two groups: the TRAB group, comprising patients who underwent trabeculectomy with MMC, and the AVI group, comprising patients who underwent AVI. Intraocular pressure (IOP), mean deviation (MD), endothelial cell density of cornea (ECD), and the number of topical anti-glaucoma agents used during study period were retrospectively analyzed. Surgical success rates were compared between two groups using Kaplan-Meier survival analysis. Three levels of surgical success were defined as follows: (1) IOP ≤ 18 mmHg and an IOP reduction of 20% without medication; (2) IOP ≤ 15 mmHg and an IOP reduction of 25% without medication; and (3) IOP ≤ 18 mmHg and an IOP reduction of 20%, irrespective of medication. RESULTS: The TRAB and AVI groups comprised 40 and 36 patients, respectively. At 36 months postoperatively, IOP was 15.7 ± 2.8 mmHg in the TRAB group and 16.9 ± 3.3 mmHg in the AVI group (p = 0.140). Surgical success rates in the TRAB group were 47.5, 37.5, and 77.5% and those in the AVI group were 41.6, 33.3, and 75.0% at 36 months for surgical criteria 1, 2, and 3, respectively. There were no statistically significant differences in the success rates between the two groups. However, regarding surgical criteria 2, the success rate of the AVI group at 1 year was significantly better than that of the TRAB group (p = 0.030). CONCLUSIONS: Primary AVI was not inferior to primary trabeculectomy with MMC in medically uncontrolled patients with XFG.

Risk factors for a phacodonesis surprise during cataract surgery in patients with pseudoexfoliation.

PURPOSE: To evaluate the association of different pre-operative parameters with surprise phacodonesis during cataract surgery among patients with pseudoexfoliation (PXF). MATERIALS AND METHODS: This is a retrospective charts review of all PXF patients who underwent cataract surgery between the years 2013 and 2018. Pre-operative parameters (demographics, biometry, intraocular pressure (IOP), endothelial cell count, pupil size, cataract density, glaucoma status, cup to disc ratio, number of glaucoma medications, prior intra-vitreous injections, risk for intraoperative floppy iris syndrome) were compared between patients with and without surprise phacodonesis. Binary logistic regression was used to calculate the predictive value of each parameter. RESULTS: Out of 396 surgical cases with computerized pre-operative assessment, we included 127 eyes of 120 PXF patients without evidence of phacodonesis preoperatively. The mean age was 77.8 ± 12.0 years, 63 (52.7%) were male, and 106 (84.2%) underwent phacoemulsification surgery. We identified 10 cases of surprise phacodonesis during surgery (8.2%). Compared to PXF cases without intraoperative phacodonesis, they had higher pre-operative IOP (23.0 ± 11.0 mmHg vs. 14.9 ± 3.8 mmHg, p < 0.001) and a higher rate of B scan use due to dense cataract obscuring posterior pole evaluation [4 (40%) vs. 15 (12.8%), p = 0.04]. Multivariant binary logistic regression confirmed that only baseline IOP contributed to the prediction of surprise phacodonesis (OR 1.22 CI 1.04-1.43, p = 0.014). CONCLUSIONS: Among patients with PXF undergoing cataract surgery, elevated IOP and poor posterior segment visibility requiring B scan use were associated with zonular instability putting these patients at risk for intra-operative complications.

Prevalence of pseudoexfoliation in diabetic patients with senile cataract: A hospital-based study in Kashmir, India.

Purpose: : To study the prevalence of pseudoexfoliation syndrome (PEX) in diabetics with senile cataracts and compare it to the prevalence in nondiabetic control group. Methods: : Two hundred and fifty diabetics and 250 nondiabetics (age and sex matched) were evaluated for PEX deposition. Results: : Chi-squared test was employed, and a P value < 0.05 was considered significant. In the PEX group, most patients belonged to the age group of 60-70 years (55.17%). Out of 18 patients with PEX, 11 (61.1%) showed bilaterality. There was a higher frequency of raised intraocular pressure (IOP; >20 mmHg) in PEX eyes (10.3%) than in the non-PEX eyes (5.9%). The PEX group had a higher number of eyes with cup-to-disc ratio (CDR) >0.6 (11.12%) than the non-PEX group (4.32%). Nuclear cataracts were more frequent in PEX eyes than non-PEX eyes, whereas PSC and mature cataracts were more prevalent in the non-PEX group. Most eyes had PEX deposition on the anterior lens capsule and pupillary margin. Of the 500 study eyes corresponding to the diabetic group, 418 had cataracts (rest pseudophakic), of which 28 had pseudoexfoliation, accounting for 6.7% of the total. In the nondiabetic control group comprising 500 eyes, 430 had senile cataracts (rest pseudophakic), of which 105 had PEX deposition, accounting for 24.4% of the total. Conclusion: : According to our findings, diabetics have a lower prevalence of PEX than nondiabetics. Few such studies have been conducted so far, and none have been conducted in the Indian population.

A Study on the Candidate Gene Association and Interaction with Measures of UV Exposure in Pseudoexfoliation Patients from India.

PURPOSE: Environmental and genetic factors are associated with development of Pseudoexfoliation syndrome (XFS). Here we intended to elucidate the association of candidate genes in relevance to UV exposure in these patients. METHODS: This is a case-control study of 309 subjects (N = 219 controls and 90 XFS cases) from India. PCR based direct sequencing was performed for candidate genes (LOXL1, POMP and TMEM136) followed by genotype and haplotype analysis. The promoter methylation status was assessed by Methylation specific PCR based direct sequencing of genomic DNA for all samples. The methylation status was compared with that of primary fibroblasts cultures established from patient's Tenon's tissue samples in subset of these patients. RESULTS: SNPs rs3825942, rs41435250, rs8818 (LOXL1) and rs3737528 (POMP) showed significant association with XFS. LOXL1 gene haplotype GAGC (rs1048661- rs3825942- rs41435250-rs8818) was associated with lower risk for XFS with a p value 4.1961 × 10-6 (OR =0; 95%CI, 0.000-0.003). POMP gene haplotypes for intronic SNPs (rs1340815- rs3737528- rs913797) TCC and TTC were associated with increased risk for the disease (OR > 1.0). Significant correlation for SNPs rs3825942 of LOXL1 (ρ= -0.132) and rs3737528 of POMP (ρ = 0.12) was observed with measure of lifetime UV exposure (CUVAF value). Reduced LOXL1 gene expression was observed in cultured tenon fibroblasts from the patients that correlated with differential methylation of the Sp-1 binding sites at -253, -243bp upstream to the transcription start site of LOXL1 promoter region. CONCLUSION: Our results suggest a possible interaction for LOXL1 gene haplotype (GAGC) with the measure of ocular UV exposure in pseudoexfoliation syndrome.

Pseudoexfoliation Glaucoma: Clinical Presentation and Therapeutic Options.

Pseudoexfoliation syndrome (PES) is one of the most common causes of open-angle glaucoma, with a higher risk of vision loss, a higher maximum and mean intraocular pressure (IOP) at diagnosis, and a wider range of IOP fluctuation compared to primary open-angle glaucoma. Patients with this syndrome have a ten-fold higher risk of developing glaucoma than the normal population. A definite diagnosis can be made by the observation of pseudoexfoliation material (PEM) on the anterior lens surface, ciliary processes, zonules, and iris. PEM deposits on the zonules may explain the clinically observed zonular weakness and lens subluxation or dislocation. An increased incidence of cataract development is also associated with PES. There is growing evidence for systemic associations of PES with peripheral, cardiovascular, and cerebrovascular system diseases, Alzheimer's disease, hearing loss, and increased plasma homocysteine levels. Indications for surgery are markedly more common in patients with pseudoexfoliation glaucoma than primary open-angle glaucoma. The goal of this article is to review the latest perspectives on the clinical features, therapy, and systemic associations of this clinically and biologically challenging disease.

Clinical profile and demographic distribution of pseudoexfoliation syndrome: An electronic medical record-driven big data analytics from an eye care network in India.

Purpose: To describe the demographics and clinical profile of pseudoexfoliation syndrome (PXF or PES) in patients presenting to a multi-tier ophthalmology hospital network in India. Methods: This cross-sectional hospital-based study included 3,082,727 new patients presenting between August 2010 and December 2021. Patients with a clinical diagnosis of PXF in at least one eye were included as cases. The data were collected using an electronic medical record system. Results: Overall, 23,223 (0.75%) patients were diagnosed with PXF. The majority of the patients were male (67.08%) and had unilateral (60.96%) affliction. The most common age group at presentation was during the seventh decade of life with 9,495 (40.89%) patients. The overall prevalence was higher in patients from a lower socio-economic status (1.48%) presenting from the urban geography (0.84%) and in retired individuals (3.61%). The most common location of the PXF material was the pupillary margin (81.01%) followed by the iris (19.15%). The majority of the eyes had mild or no visual impairment (<20/70) in 12,962 (40.14%) eyes. PXF glaucoma was documented in 7,954 (24.63%) eyes. Krukenberg's spindle was found in 64 (0.20%) eyes, phacodonesis in 328 (1.02%) eyes, and lens subluxation in 299 (0.93%) eyes. Among the surgical interventions, cataract surgery was performed in 8,363 (25.9%) eyes, trabeculectomy was performed in 966 (2.99%) eyes, and a combined procedure in 822 (2.55%) eyes. Conclusion: PXF more commonly affects males presenting during the seventh decade of life from lower socio-economic status and is predominantly unilateral. A quarter of the affected eyes are associated with glaucoma and the majority of the eyes have mild or no visual impairment.

Association between pseudoexfoliation and Alzheimer's disease-related brain atrophy.

BACKGROUND/AIMS: Pseudoexfoliation (PEX) syndrome is an age-related disorder characterized by the accumulation of extracellular material in the anterior eye segment. PEX pathogenesis is not fully understood, but amyloid which accumulates in the brain of patients with Alzheimer's disease (AD) is a PEX component. PEX deposition shares features with amyloid aggregation in AD, and brain atrophy is a common AD feature, with ß-amyloid accumulation among contributing factors. This study investigated whether PEX syndrome is associated with AD-related brain atrophy. METHODS: We reviewed the medical records of patients diagnosed with PEX at the Veterans Health Service Medical Center between January 2015 and August 2021. This retrospective cohort study included 48 patients with PEX and 48 healthy age- and sex-matched controls. Patients with PEX were divided into two groups: with and without glaucoma. The main outcome measure was brain atrophy, using a visual rating scale, and AD incidence. Brain atrophy was measured using the Scheltens scale for medial temporal atrophy, the posterior cortical atrophy scale for parietal atrophy, and the Pasquier scale for global cortical atrophy. RESULTS: The percentage of participants with medial temporal atrophy was 56.3% in the PEX group and 35.4% in the control group. The global cortical atrophy and parietal atrophy scores were significantly higher in the PEX group (P<0.05), whereas the PEX and PEX glaucoma groups showed no difference. Among the 96 participants, 16 and 5 participants in the PEX and control groups, respectively, were diagnosed with dementia. Patients with PEX glaucoma tended to have lower Mini-Mental State Examination scores, indicating impaired cognitive function, than those without glaucoma. CONCLUSION: PEX is associated with brain atrophy, reflecting the risk of developing AD. Patients with PEX glaucoma may present with advanced AD stages. Our results suggest that PEX may be a predictor of AD.

Coexistence of MRCS syndrome, extremely long axis and exfoliation syndrome: a case report and literature review.

BACKGROUND: The coexistence of MRCS (microcornea, retinal dystrophy, cataract, and posterior staphyloma) syndrome and extremely long axis is rare since microcornea frequently accompanies with diminution of entire anterior segment and occasionally the whole globe. In the case presented here, combination of these two elements were identified, together with XFS (exfoliation syndrome). CASE PRESENTATION: A 66-year-old Han Chinese woman presented for consultation due to impaired vision which accompanied throughout her entire life span and worsened during the last 2 years. Combination of MRCS syndrome and extremely long axial length was evidently diagnosed in both eyes, with XFS confirmed in her right eye, but mutation screening failed to identify disease-causing sequence variants in some specific genes reported previously, including BEST1 and ARL2. However, likely pathogenic mutations in FBN2 gene were identified. Bilateral cataract phacoemulsification without intraocular lens implantation was performed using scleral tunnel incision and under general anesthesia. At 3-month follow-up, ocular recovery of the patient was satisfactory. CONCLUSIONS: The case presented here exhibited rare coexistence of MRCS syndrome, extremely long axis and XFS. The complexity of her ocular abnormalities brought challenges to surgical management, in which multidisciplinary collaboration is often required. Furthermore, the genetic analysis in this case yielded a possible novel candidate gene for MRCS syndrome and provided evidence in support of genetic heterogeneity in this phenotype.