Characteristics of Corneal Endothelium in Axenfeld Rieger Spectrum.

PURPOSE: The purpose of this study was to compare the corneal endothelial characteristics in Axenfeld anomaly (AXA), Rieger anomaly (RGA), and Axenfeld-Rieger anomaly/syndrome with age-matched healthy controls. METHODS: This is a retrospective, comparative case-control study of 52 eyes of 30 patients with AXA/RGA and AXA/S and 36 controls. RESULTS: Median age at endothelial imaging was 21.5 years (interquartile range, 13.8-33.3 years). In the study group, the mean endothelial cell density (ECD) was 2112.4 ± 78.5 cells/mm 2 , the mean cell area (MCA) was 526.9 ± 28.5 µm 2 , and the coefficient of variation of cell size was 41.2 ± 1.8%. The ECD was significantly (all, P < 0.0001) lower than controls, while MCA ( P < 0.0001), SD of cell size ( P < 0.0001), and maximum cell area ( P = 0.0007) were significantly higher than controls. Four eyes of 3 patients had guttae on slitlamp evaluation and endothelial imaging. There were no differences in the corneal endothelial characteristics among the clinical subtypes. CONCLUSIONS: Patients with AXA, RGA, and Axenfeld-Rieger anomaly/syndrome have lower ECD and increased MCA compared with normal eyes. The reduced ECD associated with inherent anterior segment alterations can predispose to the risk of postcataract surgery endothelial decompensation in these eyes. The association of guttae in some eyes needs further investigational studies.

Updates on congenital hereditary endothelial dystrophy.

Congenital hereditary endothelial dystrophy (CHED) is a rare genetic corneal disorder causing progressive cornea clouding and significant visual impairment. CHED remains a leading indication for pediatric corneal transplantation despite its infrequency, particularly in regions with high consanguinity rates like Southeast Asia. Identifying the Solute Carrier Family 4 Member 11 (SLC4A11) gene as the genetic basis of CHED has led to the discovery of it's various genetic variations. However, a comprehensive understanding of its clinical-genetic correlation, pathophysiology, and optimal management is ongoing. This review aims to consolidate current knowledge about CHED, covering its genetic origins, pathophysiological mechanisms, clinical presentation, and management strategies. Surgical intervention, such as penetrating keratoplasty (PK), Descemet stripping automated endothelial keratoplasty (DSAEK), and Descemet membrane endothelial keratoplasty (DMEK), remains the primary treatment. DSAEK and DMEK offer advantages over PK, including quicker visual recovery, reduced complications, and longer graft survival, especially in the pediatric age group. The timing of surgical interventions depends on disease severity, age at presentation, comorbidities, and visual potential. Elevated oxidative stress in CHED corneal tissue suggests potential benefits from anti-inflammatory drugs to rescue mutated endothelial cells. Considering the limitations of corneal graft surgeries, exploring novel gene-based molecular therapies are essential for future management. Early diagnosis, appropriate surgical interventions, amblyopia control, and genetic counseling for predictive analysis are pivotal for optimizing CHED management. A multidisciplinary approach involving ophthalmologists, researchers, and genetic counselors is essential for precise diagnosis and optimal care for CHED patients.

Objectively measuring anterior segment alterations in the eyes of mucopolysaccharidoses: Its utility in early diagnosis of glaucoma.

Purpose: Our study aimed to evaluate the utility of the anterior segment morphometry for objectively assessing anterior segment architectural changes of corneal clouding in the mucopolysaccharidoses (MPS) cohort and to investigate whether these measurements correlate with the slit-lamp findings on the cornea and early diagnosis of glaucoma. Methods: This retrospective study involved 70 eyes of 35 children with cloudy cornea due to MPS variants. Anterior segment architectural alterations were measured using anterior segment imaging and biometry in MPS children and compared with controls. Results: Mean age of the cohort at the time of assessment was 7.9 ± 4.5 years. Males constituted two-thirds of the cohort. Variants of MPS with cloudy cornea were as follows: Type I (62%), Type IV (11%), and Type VI (22%). Morphometric measurements were available in 22 eyes of 11 MPS children and an age-matched healthy control group. There were significant differences between MPS cohort and controls in refraction in Diopters (5.03 ± 0.39 and 0.01 ± 0.04; P < 0.0001), axial length (AXL) in mm (21.39 ± 0.28 and 23.04 ± 0.28; P = 0.0002), average keratometry in Diopters (40.67 ± 0.44 and 42.83 ± 0.44; P < 0.0001), anterior chamber depth (ACD) in mm (2.92 ± 0.07 and 3.65 ± 0.07; P < 0.0001), and intraocular pressure (IOP) in mmHg (25.2 ± 2.0 and 14.1 ± 2.3; P = 0.0003). Secondary glaucoma was observed in 28% of the MPS cohort. Conclusion: The anterior segment morphometry in the cloudy cornea due to MPS provides an objective measurement of anterior segment architectural changes, thus diagnosing early-onset secondary glaucoma. These findings highlight that cloudy cornea due to MPS variants merits close monitoring throughout life.

Selective Endothelialectomy in Peters Anomaly: A Novel Surgical Technique and Its Clinical Outcomes in Children.

PURPOSE: This study describes the surgical outcomes of selective endothelialectomy in Peters anomaly (SEPA), a relatively new technique to manage Peters anomaly (PA). METHODS: This study included 34 eyes of 28 children who had a visually significant posterior corneal defect due to PA and underwent SEPA between 2012 and 2019. A selective endothelialectomy from the posterior corneal defect was performed while preserving Descemet membrane. The primary outcome measure was the resolution of corneal opacification. The secondary outcome measures were functional vision, complications, and risk factors for failure. RESULTS: At a mean postoperative follow-up of 0.96 ± 0.20 years, 29 eyes (85.3%) maintained a successful outcome. Mean preoperative and postoperative best-corrected visual acuities were 2.55 ± 0.13 and 1.78 ± 0.13 ( P < 0.0001), respectively. Ambulatory functional visual improvement was seen in 97%, and 23% attained vision ranging between 20/190 and 20/50. Corneal opacification failed to clear in 5 eyes (15%). Risk factors associated with surgical failure were female sex ( P = 0.006), disease severity ( P < 0.0001), glaucoma ( P = 0.001), and additional interventions after SEPA ( P = 0.002). In multivariate analysis, only disease severity (ie, a type 2 PA) was a significant risk factor for the failure of SEPA. There were no sight-threatening complications. CONCLUSIONS: SEPA is a safe and effective technique in select cases of posterior corneal defect due to PA. SEPA could be a potential surgical alternative to pediatric keratoplasty or optical iridectomy in children with central corneal opacification smaller than 7 mm due to PA.

Asymmetric Peripheral Refraction Profile in Myopes along the Horizontal Meridian.

SIGNIFICANCE: The investigation of peripheral refraction profiles in Indian myopes showed relative peripheral hyperopic refraction in temporal retina and possible dominant role of hyperopic defocus signals from temporal retina in the development of myopia. PURPOSE: Considering that the peripheral refraction profiles were extensively reported to be associated with the central refractive error and vary among different ethnicities, we investigated the peripheral refraction profiles in Indians. METHODS: A total of 161 participants aged between 18 and 33 years were included in the study. All of the eligible participants underwent a comprehensive eye examination. Central and peripheral refractions were determined using an open-field autorefractor in 10° intervals up to ±30° in the horizontal meridian, and in 5° intervals up to ±15° in the vertical meridian. Axial length and central corneal radius were measured using a non-contact optical biometer. Peripheral refraction was compared between the different refractive error groups and myopic subgroups. RESULTS: Myopes showed a significant asymmetrical peripheral refraction profile along horizontal meridian with relative peripheral myopia at nasal 30° and relative peripheral hyperopia at temporal 30° (mean ± standard error at N30°: -0.37 ± 0.13 D vs. T30°: +0.56 ± 0.11 D, P < .05). Emmetropes and hyperopes showed relative peripheral myopia both in nasal and temporal eccentricities. Relative peripheral refraction was significantly different between the refractive groups and myopic subgroups along the temporal retinal eccentricities only (P < .05). Along the vertical meridian, relative peripheral myopia was seen among the three refractive error groups (P < .05). J0 and J45 significantly changed with retinal eccentricity along both the meridians in all the refractive error groups (P < .05). CONCLUSIONS: Myopes showed an asymmetric type of peripheral refraction with relative hyperopic defocus in temporal retina and myopic defocus in the nasal retina. Possible role of retinal hyperopic defocus along temporal retina in myopiogenesis needs to be explored.

Secondary developmental glaucoma in eyes with congenital aphakia.

PURPOSE: To describe the clinical spectrum and management of glaucoma in congenital aphakia. METHODS: The demographics and clinical spectrum of eyes with congenital aphakia with and without glaucoma were compared, and management outcomes of congenital aphakia cases with glaucoma were studied retrospectively between April 2000 and June 2020. RESULTS: There were a total of 168 eyes (84 subjects) with a diagnosis of congenital aphakia, of which 29 eyes of 18 subjects were diagnosed with glaucoma. Corneal opacity was the presenting complaint in 26/29 eyes with glaucoma and 139/139 eyes without glaucoma. The (interquartile range (IQR)) horizontal corneal diameterwas 10.5mm (IQR, 9.0-12.5) and 8mm (IQR, 5-10) in eyes with and without glaucoma (P = 0.01), respectively. The median (IQR) axial length was 17.5mm (IQR, 13.5-19.5) and 15mm (IQR, 14-16) mm in eyes with and without glaucoma (P = 0.03), respectively. Nineteen eyes with glaucoma had adequate intraocular pressure (IOP) control with one medication. Three eyes underwent transscleral diode cyclophotocoagulation and maintained IOP without medications. Three eyes underwent trabeculectomy and trabeculotomy, trabeculectomy followed by penetrating keratoplasty, and trabeculectomy, respectively, of which two eyes became phthisical. At the last follow-up, the median (IQR) IOP was 14 mm Hg (IQR, 14-17) Hg. The median(IQR) follow-up duration was 4.53 months (IQR, 2.03- 48.06). CONCLUSION: One-fifth of the eyes with congenital aphakia had secondary developmental glaucoma. The corneal diameter and axial lengths were higher in the eyes with glaucoma compared to eyes without glaucoma. Medical management is the preferred short-term mode of IOP control. Transscleral cyclophotocoagulation may be preferred over surgical intervention.

Outcomes after surgical removal of anterior epi-capsular plaque associated with persistent pupillary membranes in children.

INTRODUCTION: Anteriorepi-capsular plaque (ACP) is usually eccentric and is associated with persistent iris strands arising from the collarette. Outcomes of lens preserving ACP peeling along with removal of persistent pupillary membrane (PPM) strands have seldom been reported with only a few cases within some case series appearing in the literature. Herein we aim to report outcome after surgical removal of ACP associated with PPM in children. METHODS: Research was done in three different Institutes. Charts were reviewed for all children who had undergone ACP removal surgery from 2010. Age at surgery, gender, preoperative best corrected visual acuity (BCVA), preoperative refraction, morphologic details of ACP, intraoperative complications, ophthalmic viscosurgical device use, age at last follow-up, postoperative complications, and postoperative BCVA were reviewed. RESULTS: A total of 16 patients, 10 male and 6 female, were included in study. Age at surgery ranged from 2 to 86 months old. Age at last follow up visit ranged from 2 to 14 years old. Postoperative complications were not observed in any of the 16 patients. Specifically, in all patients the crystalline lens remained clear at the last follow up visit. CONCLUSIONS: Congenital ACP of the lens associated with PPM and clear lens can be safely surgically removed with a very low risk of iatrogenic cataract in the early period after surgery.