Granular Corneal Dystrophy Research Articles

In Vivo Confocal Microscopy Findings in Corneal Stromal Dystrophies

Background/Objectives: In this study, we aim to evaluate in vivo confocal microscopy (IVCM) findings of corneal stromal dystrophies (CSDs) including granular, macular and lattice corneal dystrophy that can be used for differential diagnosis and monitoring recurrences after surgical interventions. Methods: Patients diagnosed with CSD who were followed-up in the cornea and ocular surface unit were included in this study. IVCM was performed using the Heidelberg Retina Tomograph 3, Rostock Cornea Module (Heidelberg Engineering, Germany) and anterior segment optical coherence tomography (AS-OCT) imaging was performed using the Spectralis OCT (Heidelberg Engineering, Germany). The morphological structure, size and location of deposits, epithelial involvement and presence of inflammatory and dentritic cells were compared among the three stromal dystrophies. Results: A total of 72 eyes from 36 participants were included in this study. Twelve patients (33.33%) had granular corneal dystrophy (GCD), ten (27.77%) had macular corneal dystrophy (MCD) and fourteen (38.88%) had lattice corneal dystrophy (LCD). In GCD, highly reflective deposits varying in size (20 µm–300 µm) were observed. In MCD, diffuse hyperreflective stroma with dark striae, dentritic cells around deposits and abnormal keratocytes were observed. In LCD, there were branching, lattice-like and granular deposits with epithelial cell disruption in some of the eyes. In MCD, the central corneal thickness was thinner (449.44 ± 65.45 µm) compared to GCD and LCD (565.16 ± 49.62 µm and 569.91 ± 39.32 µm p < 0.001). Recurrence was observed in five patients following penetrating keratoplasty. Conclusions: IVCM is a valuable tool for distinguishing CSD subtypes and monitoring recurrence following surgical interventions.

Compound Heterozygous p.(R124C) (Classic Lattice Corneal Dystrophy) and p.(R124H) (Granular Corneal Dystrophy Type 2) in TGFBI: Phenotype, Genotype, and Treatment

(1) Background: The phenotypes of classic lattice corneal dystrophy (LCD) and granular corneal dystrophy type 2 (GCD2) that result from abnormalities in transforming growth factor β-induced gene (TGFBI) have previously been described. The phenotype of compound heterozygous classic LCD and GCD2, however, has not yet been reported. (2) Case report: A 39-year-old male (proband) presented to our clinic complaining of decreased vision bilaterally. A slit-lamp examination revealed corneal opacities consistent with classic LCD. Contrast sensitivity (CS) was decreased. A genetic analysis performed with commercially available real-time polymerase chain reaction (PCR) showed both homozygous classic LCD and homozygous GCD2. Sanger sequencing performed in our lab suggested compound heterozygosity for c.370C>T and c.371G>A variants, which was confirmed by the TA cloning of exon 4 of TGFBI and sequencing of clones. Phototherapeutic keratectomy (PTK) was performed on the right eye of the proband, and the CS improved. (3) Conclusions: Compound heterozygous classic LCD and GCD2 produces clinical findings like that of severe, classic LCD. PTK can improve VA and CS, delaying the need for keratoplasty.

Repeat Femtosecond-Assisted Anterior Lamellar Keratoplasty for Recurrence of TGF B I Dystrophy in Eyes After Previous FALK.

To report the management of recurrent TGF BI dystrophy after prior femtosecond-assisted anterior lamellar keratoplasty (FALK) with repeat FALK. Clinical and histopathological study of 2 eyes of 2 patients with a recurrence of TGFBI dystrophy. Patient 1 had Reis-Buckler corneal dystrophy, and patient 2 had granular corneal dystrophy GCD type 1. Patient 1 had FALK 8 years ago, when she was 23 years old. Patient 2 had FALK 7 years ago at the age of 24 years. Slit-lamp examination showed recurrence in the subepithelial layer of the anterior lamellar graft as confluent chalky white granular deposits. Anterior segment optical coherence tomography highlighted the deposits in the subepithelial region of the anterior lamellar graft. The anterior lamellar graft with deposits was removed and replaced with another graft created using femtolaser dissection of a healthy donor. The parameters for femtosecond laser-assisted donor dissection was similar to the size and depth as the previously used donor. The best-corrected visual acuity was restored to 20/30 in patient 1 and 20/25 in patient 2. The histology of the anterior lamellar graft showed eosinophilic deposits between the epithelium and the Bowman layer in both samples. In addition, the corneal sample from patient 2 revealed Bowman layer breach at some places and few deposits at 1 edge of the lamellar graft. Repeat FALK with a healthy donor is effective in the management of recurrence of deposits. The histology of the recurrence in the anterior lamellar graft revealed eosinophilic deposits predominantly between the epithelium and Bowman layer.

A rare case of bilateral keratoconus and granular corneal dystrophy managed with contact lens

Keratoconus (KC) is a bilateral, non-inflammatory, progressive thinning disorder of the cornea that results in high irregular astigmatism, distortion, and poor vision. Granular corneal dystrophy (GCD) is an autosomal dominant stromal dystrophy with onset in childhood that involves the entire cornea. KC associated with GCD is a rare combination that could occur due to abnormal synthetic activity of keratocytes and degeneration of defective basal epithelial cells. This case report shows the management of KC associated with GCD – an uncommon condition.

Morphological Characteristics of Granular Corneal Dystrophy Type 1 in the Korean Population

Purpose: Granular corneal dystrophy type 1 (GCD1) is a genetic disorder characterized by grayish-white granular deposits in the corneal stroma, typically manifesting before age 10. The specific characteristics of GCD1 in the Korea population remain insufficiently described. This study investigated the morphological features of GCD1 corneas with confirmed genetic mutations in this population.Methods: Medical records of GCD1 patients with the R555W mutation confirmed through transforming growth factor β induced (TGFBI) gene testing on oral epithelium or blood samples from 2005-2022, were analyzed. Corneal photographs obtained using a slit lamp biomicroscope were also examined.Results: The study group included 11 males and 19 females with an average age of 35.7 years, ranging from 3-70 years. All participants were heterozygotes. In 28 individuals (56 eyes, representing 93.3% of the total), there were signs of corneal deposit detachments, known as “drop-off”, observed in patients aged 6 years and above. Surface deposits reemerged at the peripheral margin of previous locations and expanded toward the center. The number and shape of opacities significantly changed with age, showing cycles of deposition and shedding. There were variations in the severity of opacities within the same family, particularly with advancing age, and distinct opacities extending into deeper stromal layers.Conclusions: This study outlines the morphological characteristics of corneas in Korean GCD1 patients, based on corneal photograph analysis. These findings provide a basis for future comparative studies with GCD2 and may aid rapid clinical diagnosis based on clinical findings, prior to genetic testing confirmation.

Classic lattice corneal dystrophy: a brief review and summary of treatment modalities.

To provide a brief summary and comparison of the most recent literature on available and theorized treatment modalities for classic lattice corneal dystrophy (LCD). This paper aims to support practitioners in their management of this disease. A search was carried out on available literature through PubMed and Google Scholar of English language articles up to January 2023 that relate to the treatment of LCD. Due to scarcity of literature regarding specific novel therapies for LCD, results from other corneal pathologies (granular corneal dystrophy, corneal scarring) are sometimes included for contrast, which is clearly denoted. LCD is a slowly progressive disease that leads to recurrent epithelial corneal erosions, stromal haze, corneal opacification, substantial discomfort, and visual impairment. Due to its autosomal-dominant inheritance pattern, this disease can persist throughout ancestral lines and requires consistent treatment and follow-up. An optimal management plan is necessary to (1) prolong years of life with best achievable visual acuity; (2) treat painful recurrent corneal erosions as they occur; (3) ensure proper follow-up throughout the life of a patient, as well as monitor at-risk offspring; and (4) monitor efficacy of treatment. This paper addresses (1) treatment for early disease including corneal epithelial debridement, photo therapeutic keratectomy (PTK), femtosecond laser-assisted lamellar keratectomy (FLK), and others; (2) treatment for late disease including full thickness keratoplasties and anterior lamellar keratoplasties; and (3) potential future treatment considerations including a wide variety of topical/systemic, genetic, and regenerative approaches.

Effects of the pharmaceutical formulation of topical medications on corneal epithelial healing after phototherapeutic keratectomy.

To determine the effect of the formulation of topical medications on the healing of corneal epithelial cells after phototherapeutic keratectomy (PTK). Retrospective cohort study. We studied 271 eyes of 189 consecutive patients (aged 67.6 ± 11.8 years) who had undergone PTK for granular corneal dystrophy (n = 140), band keratopathy (n = 47), or lattice corneal dystrophy (n = 2). Postoperatively, generic or brand-named levofloxacin, 0.1% betamethasone, or 0.1% bromfenac sodium hydrate was applied topically. Patients were examined on postoperative days 1, 2, and 5 and weekly thereafter. The time to re-epithelialization was assessed by use of Kaplan-Meier and Cox proportional hazards analyses. The time to re-epithelialization was significantly longer with generic 0.5% levofloxacin, at 8.2 ± 3.5 days, than with 0.5% Cravit (levofloxacin), at 6.7 ± 3.5 days (P = 0.018), or with 1.5% Cravit, at 6.3 ± 2.6 days (P = 0.000). In addition, the time to re-epithelialization was significantly longer with generic 0.1% betamethasone (Sanbetason), at 7.3 ± 3.4 days, than with brand-name 0.1% betamethasone (Rinderon), at 6.1 ± 2.5 days (P = 0.0002). The Cox proportional hazards model indicated that the use of generic formulations for levofloxacin eye drops and 0.1% betamethasone was a significant factor that delayed corneal re-epithelialization (hazard ratio [HR] = 0.72, P = 0.002 and HR = 0.77, P = 0.006, after adjustment for age). Re-epithelialization was significantly shorter in band keratopathy than in corneal dystrophy (HR = 1.56, P = 0.004). No other factors, including age, bandage contact lens, and diabetes mellitus, were significantly associated with time to re-epithelialization. Corneal epithelial healing can be significantly affected by different antibacterial or steroid eye drops. Clinicians need to be aware that a generic formulation may affect corneal epithelial healing.

Mini-Review: Clinical Features and Management of Granular Corneal Dystrophy Type 2.

Granular corneal dystrophy type 2 (GCD2) is an autosomal dominant corneal stromal dystrophy that is caused by p.Arg124His mutation of transforming growth factor β induced (TGFBI) gene. It is characterized by well demarcated granular shaped opacities in central anterior stroma and as the disease progresses, extrusion of the deposits results in ocular pain due to corneal epithelial erosion. Also, diffuse corneal haze which appears late, causes decrease in visual acuity. The prevalence of GCD2 is high in East Asia including Korea. Homozygous patients show a severe phenotype from an early age, and the heterozygote phenotype varies among patients, depending on several types of compound heterozygous TGFBI mutations. In the initial stage, conservative treatments such as artificial tears, antibiotic eye drops, and bandage contact lenses are used to treat corneal erosion. Different surgical methods are used depending on the depth and extent of the stromal deposits. Phototherapeutic keratectomy removes anterior opacities and is advantageous in terms of its applicability and repeatability. For deeper lesions, deep anterior lamellar keratoplasty can be used as the endothelial layer is not always affected. Recurrence following these treatments are reported within a wide range of rates in different studies due to varying definition of recurrence and follow-up period. In patients who have undergone corneal laser vision-correction surgeries such as photorefractive keratectomy, LASEK, or LASIK including SMILE surgery, corneal opacity exacerbates rapidly with severe deterioration of visual acuity. Further investigations on new treatments of GCD2 are necessary.

Visual Function after Multifocal Intraocular Lens Insertion in a Heterozygous Granular Corneal Dystrophy Type 2 Patient: Case Report

Purpose: A patient with heterozygous granular corneal dystrophy type 2 (GCD2) underwent phacoemulsification with multifocal intraocular lens insertion, and complained of visual discomfort. We investigated the cause of the discomfort and visual function in this case.Case summary: A 59-year-old woman with granular opacity had slit lamp photographs taken 5 years earlier. Two years later, she underwent phacoemulsification with multifocal intraocular lens (Trifocal AT Lisa tri toric 839MP<sup>®</sup>, Carl Zeiss Meditec AG, Inc., Jena, Germany) insertion in both eyes at a local clinic. She felt very uncomfortable after the surgery, but the granular and lattice opacities due to GCD2 of her corneas remained stationary for 5 years. Her visual acuity decreased from preoperatively (preoperative: right 0.5, left 0.6; last visit: right 0.3, left 0.4). Her contrast sensitivity was also decreased and the total higher order aberration was increased (right 1.590 μm, left 1.194 μm), compared to normal range.Conclusions: Multifocal intraocular lens insertion in cataract surgery can lead to severe declines in contrast sensitivity and visual acuity and increased higher-order aberration in a GCD2 patient. It may not be advisable to use multifocal intraocular lenses in a GCD2 patient.

Sequential Custom Therapeutic Keratectomy for the Treatment of Granular Corneal Dystrophy Type 1: A Long-term Study.

To evaluate the effectiveness of sequential custom phototherapeutic keratectomy (SCTK) for granular corneal dystrophy type 1 (GCD1). Thirty-seven eyes of 21 patients with GCD1 were treated with SCTK to remove superficial opacifications, regularize the corneal surface, and decrease optical aberrations. SCTK is a sequence of custom therapeutic excimer laser keratectomies with step-by-step intraoperative corneal topography monitoring of results. Six eyes of 5 patients previously treated with penetrating keratoplasty received SCTK for disease recurrence. Pre-operative and postoperative corrected distance visual acuity (CDVA), refractive values, mean pupillary keratometry, and pachymetry were retrospectively analyzed. The mean follow-up period was 41.3 months. SCTK provided significant decimal CDVA improvement, from 0.33 ± 0.22 to 0.63 ± 0.24 (P < .0001) at the last available follow-up visit. One eye, initially treated with penetrating keratoplasty, showed visually significant disease 8 years after the first SCTK and was re-treated. Mean corneal pachymetry difference between preoperative and final follow-up values was 78.42 ± 62.26 µm. Mean corneal curvature and the spherical component did not show a statistically significant change or hyperopic shift. Astigmatism and higher order aberration reduction were statistically significant. SCTK is a powerful tool for the treatment of anterior corneal pathologies hindering vision and quality of life, such as GCD1. SCTK is less invasive and fosters more rapid visual recovery than penetrating keratoplasty or deep anterior lamellar keratoplasty. Providing significant visual improvement, SCTK can be the preferred initial treatment in eyes with GCD1. [J Refract Surg. 2023;39(6):422-429.].

Management of Stromal Corneal Dystrophies; Review of the Literature with a Focus on Phototherapeutic Keratectomy and Keratoplasty.

Corneal dystrophies are a group of non-inflammatory inherited disorders of the cornea. This review considers treatment options for epithelial-stromal and stromal corneal dystrophies: namely Reis-Bücklers, Thiel-Behnke, lattice, Avellino, granular, macular and Schnyder corneal dystrophies. Where there is visual reduction, treatment options may include either phototherapeutic keratectomy (PTK) or corneal transplantation. Due to the anterior location of the deposits in Reis-Bücklers and Thiel-Behnke dystrophies, PTK is considered the treatment of choice. For lattice, Avellino, granular and macular corneal dystrophies, PTK provides temporary visual improvement; however, with recurrences, repeat PTK or a corneal transplant would be needed. For Schnyder dystrophy, should treatment be required, PTK may be the preferred option due to the potential for recurrence of the disease in corneal transplantation. This review discusses the literature and evidence base for the treatment of corneal dystrophies in terms of visual outcomes and recurrence rate.

Topical Losartan: Practical Guidance for Clinical Trials in the Prevention and Treatment of Corneal Scarring Fibrosis and Other Eye Diseases and Disorders.

Losartan is an angiotensin II receptor blocker (ARB) that impedes transforming growth factor (TGF) beta signaling by inhibiting activation of signal transduction molecule extracellular signal-regulated kinase (ERK). Studies supported the efficacy of topical losartan in decreasing scarring fibrosis after rabbit Descemetorhexis, alkali burn, and photorefractive keratectomy injuries, and in case reports of humans with scarring fibrosis after surgical complications. Clinical studies are needed to explore the efficacy and safety of topical losartan in the prevention and treatment of corneal scarring fibrosis, and other eye diseases and disorders where TGF beta has a role in pathophysiology. These include scarring fibrosis associated with corneal trauma, chemical burns, infections, surgical complications, and persistent epithelial defects, as well as conjunctival fibrotic diseases, such as ocular cicatricial pemphigoid and Stevens-Johnson syndrome. Research is also needed to explore the efficacy and safety of topical losartan for hypothesized treatment of transforming growth factor beta-induced (TGFBI)-related corneal dystrophies (Reis-Bu¨cklers corneal dystrophy, lattice corneal dystrophy type 1, and granular corneal dystrophies type 1 and type 2) where deposited mutant protein expression is modulated by TGF beta. Investigations could also explore the efficacy and safety of topical losartan treatments to reduce conjunctival bleb scarring and shunt encapsulation following glaucoma surgical procedures. Losartan and sustained release drug delivery devices could be efficacious in treating intraocular fibrotic diseases. Dosing suggestions and precautions that should be considered in trials of losartan are detailed. Losartan, as an adjuvant to current treatments, has the potential to augment pharmacological therapeutics for many ocular diseases and disorders where TGF beta plays a central role in pathophysiology.

Reduced OPA1, Mitochondrial Fragmentation and Increased Susceptibility to Apoptosis in Granular Corneal Dystrophy Type 2 Corneal Fibroblasts.

The progressive degeneration of granular corneal dystrophy type 2 (GCD2) corneal fibroblasts is associated with altered mitochondrial function, but the underlying mechanisms are incompletely understood. We investigated whether an imbalance of mitochondrial dynamics contributes to mitochondrial dysfunction of GCD2 corneal fibroblasts. Transmission electron microscopy revealed several small, structurally abnormal mitochondria with altered cristae morphology in GCD2 corneal fibroblasts. Confocal microscopy showed enhanced mitochondrial fission and fragmented mitochondrial tubular networks. Western blotting revealed higher levels of MFN1, MFN2, and pDRP1 and decreased levels of OPA1 and FIS1 in GCD2. OPA1 reduction by short hairpin RNA (shRNA) resulted in fragmented mitochondrial tubular networks and increased susceptibility to mitochondrial stress-induced apoptosis. A decrease in the mitochondrial biogenesis-related transcription factors NRF1 and PGC1α was observed, while there was an increase in the mitochondrial membrane proteins TOM20 and TIM23. Additionally, reduced levels of mitochondrial DNA (mtDNA) were exhibited in GCD2 corneal fibroblasts. These observations suggest that altered mitochondrial fission/fusion and biogenesis are the critical molecular mechanisms that cause mitochondrial dysfunction contributing to the degeneration of GCD2 corneal fibroblasts.

Comparison of the Predictive Accuracy of Intraocular Lens Power Calculations after Phototherapeutic Keratectomy in Granular Corneal Dystrophy Type 2.

Granular corneal dystrophy type 2 (GCD2) is an autosomal dominant disease affecting vision. Phototherapeutic keratectomy (PTK) is advantageous in removing vision-threatening corneal opacities and postponing keratoplasty; however, it potentially disturbs accurate intraocular lens (IOL) power calculation in cataract surgery. The myopic/hyperopic Haigis-L method with or without the central island has been reported; nevertheless, an optimal method has not yet been established. To compare the predictive accuracy of post-PTK IOL power calculations in GCD2, the retrospective data of 30 eyes from July 2017 to December 2020 were analyzed. All GCD2-affected eyes underwent post-PTK standard cataract surgery using the WaveLight EX500 platform (Alcon Laboratories, Inc., Fort Worth, TX, USA) under a single surgeon. The mean prediction error (MPE) and absolute error (MAE) with the myopic/hyperopic Haigis-L, Barrett Universal II, Barrett True-K, Haigis, and SRK/T by standard keratometry (K) and total keratometry (TK), where possible, were analyzed. Barrett Universal II and SRK/T showed significantly superior MPE, and MAE compared with the myopic/hyperopic Haigis-L method. TK was not significantly superior to K in the same formula. In conclusion, this study suggests that these biometries and formulas, especially Barrett Universal II and SRK/T, are potentially useful in IOL power calculation in GCD2 after PTK.

Complications in deep anterior lamellar keratoplasty - A retrospective cross sectional interventional analysis in a large series.

To analyse complications in patients managed with deep anterior lamellar keratoplasty (DALK) for diseases of anterior corneal stroma. This was a retrospective analysis of all the patients who underwent DALK in a tertiary care center in South India from 2010 to 2021. A total of 484 eyes in 378 patients were included in the study. Patients who underwent DALK for advanced keratoconus, keratoconus with Bowman's membrane scar, healed hydrops, macular corneal opacity, macular corneal dystrophy, granular corneal dystrophy, spheroidal degeneration, pellucid marginal degeneration, post-LASIK ectasia, descemetocele, postcollagen cross-linking aborted melt and dense scar, and postradial keratotomy were included in the study. The patients were followed up for 17.6±9.4 months(1-10years). Complications noted in the surgery were intraoperatively Descemet's membrane perforation in 32 eyes (6.6%), postoperatively secondary glaucoma in 16 eyes (3.31%), cataract in 7 eyes (1.45%), suture-related complications in 5 eyes (1.03%), graft rejection in 3 eyes (0.61%), traumatic dehiscence in 2 eyes (0.41%), filamentary keratitis in 2 eyes (0.41%), interface infiltrate in 1 eye (0.21%), and recurrence of disease in 4 eyes (8.77%) out of 57 eyes with corneal dystrophy. DALK as an alternative to penetrating keratoplasty for anterior corneal stromal diseases has proven to be better time and again. It has become an automatic choice for diseases of anterior cornea requiring keratoplasty. Complications occurring at any stage of surgery can be identified and managed effectively resulting in optimal outcome. This article compiles complications post DALK.

Granular Corneal Dystrophy Type 2 in a Middle-aged Male

Granular Corneal Dystrophy Type 2 in a Middle-aged Male

Phenotypes of Granular Corneal Dystrophy Type 2 among Koreans in Their Twenties

Purpose: Granular corneal dystrophy type 2 (GCD2) is a hereditary disease that features granular and lattice stromal deposits in the cornea. There are homozygotes and heterozygotes and the opacities are exacerbated by corneal trauma or surgery, such as laser in situ keratomileusis (LASIK). As there is individual variability in GCD2 phenotypes, we investigated various corneal features of GCD2 patients in their twenties, the main age group for refractive surgery.Methods: From genetically confirmed GCD2 patients who had an R124H mutation of the transforming growth factor β induced (&lt;i&gt;TGFBI&lt;/i&gt;) gene at age 20 to 29 years, we chose representative patients: one homozygote; one compound heterozygote; one simple heterozygote with a severe phenotype with many granular deposits; one common heterozygote; and four heterozygotes with normal corneas. The corneas of all patients were subject to slit-lamp examination and photographed.Results: The homozygote had confluent granular deposits covering the cornea. The compound heterozygote had granular and lattice deposits covering the center of the cornea. The patient with a severe phenotype had more than 30 granular deposits in one eye, but was a simple GCD2 heterozygote, verified by full-sequencing of the &lt;i&gt;TGFBI&lt;/i&gt; gene. In the four patients with normal corneas, a single small lesion was subsequently detected during follow-up in two, at 3 weeks and 6 months, respectively. Both corneas were judged clear at chance examinations.Conclusions: Among Koreans in their twenties, GCD2 patients have various phenotypes, from clear corneas to severe confluent opacities. There are GCD2 heterozygotes with nearly clear corneas, so caution must be taken when choosing patients for refractive surgery.

Association of transforming growth factor beta induced mutations with congenital and juvenile onset open angle glaucoma

AbstractPurpose: To investigate the molecular basis of congenital glaucoma in a family with GAPO (growth retardation, alopecia, pseudoanodontia, and progressive optic atrophy) syndrome.Methods: We report ocular features of three girls with GAPO syndrome born of consanguineous marriage in a multi‐ generation consanguineous family. The proband (4 year old girl) and her younger sibling (1 year old girl) were operated for bilateral congenital glaucoma in both eyes. The elder sibling (10 year old female) had features of GAPO syndrome but did not manifest features of glaucoma.Results: A genetic evaluation using whole exome sequencing revealed a homozygous ANTXR1 mutation in all 3 affected siblings with GAPO. No other mutations were detected in the genes associated with glaucoma. A rare missense mutation in Transforming Growth Factor Beta Induced (TGFBI) gene was shared in the two siblings with congenital glaucoma and GAPO syndrome. We then looked for the presence of TGFBI gene mutations in another cohort of 54 unrelated patients with early onset glaucoma (before 25 years of age) in whom Whole exome sequencing was previously done and no known glaucoma mutations were detected. We found three TGFBI mutations present in three unrelated juvenile onset open angle glaucoma (JOAG) patients, one of whom also had an associated corneal granular dystrophy. None of these patients had any other mutations associated with known genes for glaucoma.Conclusions: Mutations in TGFBI gene could have a role in the pathogenesis of congenital and juvenile onset open angle glaucoma.

Changes in Stress-Strain Index and Corneal Biomechanics in Granular Corneal Dystrophy.

The aim of this study was to assess stress-strain index (SSI) and corneal biomechanical parameters in eyes with granular corneal dystrophy (GCD). This case-control study included 12 eyes of 12 patients with GCD (mean age 45.2 ± 18.7 years) and 20 eyes of 20 healthy individuals (mean age 54.4 ± 3.8 years). In addition to SSI, dynamic corneal response (DCR) parameters were assessed at the first and second applanation, including length (AL1, AL2), velocity (AV1, AV2), time (AT1, AT2), and deformation amplitude (DA A1, DA A2), and at the highest concavity (HC) phase, including DA, peak distance (PD), radius (HCR), and DA ratio (DAR 1 and 2 mm), by Corvis ST. Central corneal thickness (CCT) and biomechanically corrected intraocular pressure (bIOP) were considered covariates in comparing DCR parameters between the two groups. SSI was statistically significantly lower in eyes with GCD than in normal eyes (p = 0.04). The corneal velocity towards the first applanation was 0.02 m/s faster in the GCD eyes AV1 (0.15 ± 0.02 vs. 0.13 ± 0.02 m/s, p &lt; 0.001) and IR (7.48 ± 1.01 vs. 6.80 ± 1.22 mm, p = 0.003) parameters were significantly higher in the GDC group, while AT1 (7.33 ± 0.66 vs. 7.47 ± 0.36 ms, p = 0.002) and HCR (7.42 ± 0.76 vs. 8.20 ± 1.08 mm, p = 0.014) were significantly lower in the normal group. GCD led to a change in biomechanical properties of the cornea. SSI refers to fewer stiff corneas in GDC than normal.

Complications in deep anterior lamellar keratoplasty - A retrospective interventional analysis in a large series.

To analyze the complications in patients managed with deep anterior lamellar keratoplasty (DALK) for diseases of the anterior corneal stroma. This is a retrospective analysis of all the patients who underwent DALK in a tertiary care center in South India from 2010 to 2020. A total of 474 eyes in 373 patients were included in the study. Patients who underwent DALK for advanced keratoconus, keratoconus with Bowman's membrane scar, healed hydrops, macular corneal opacity, macular corneal dystrophy, granular corneal dystrophy, spheroidal degeneration, pellucid marginal degeneration, post-laser-assisted in situ keratomileusis ectasia, descematocele, post-collagen cross-linking aborted melt and dense scar, and post-radial keratotomy were included in the study. The patients were followed up for 17.2 +/- 9.2 months (1-9 years). Complications noted in the surgery were intra-operatively Descemet's membrane perforation in 31 eyes (6.54%), post-operatively secondary glaucoma in 16 eyes (3.37%), cataract in seven eyes (1.47%), suture-related complications in five eyes (1.05%), graft rejection in three eyes (0.63%), traumatic dehiscence in two eyes (0.42%), filamentary keratitis in two eyes (0.42%), interface infiltrate in one eye (0.21%), and recurrence of disease in four eyes (7.14%) out of 57 eyes with corneal dystrophy. DALK as an alternative to penetrating keratoplasty for anterior corneal stromal diseases. It has become an automatic choice for diseases of the anterior cornea requiring keratoplasty. Complications can occur at any stage of surgery; however, if identified and managed early, they can result in optimal outcome.