Deep anterior lamellar keratoplasty outcomes in macular and granular corneal dystrophy – A comparative cross-sectional study

Purpose: To compare the functional and anatomical outcomes (in terms of graft uptake and rejection/failure) of deep anterior lamellar keratoplasty (DALK) in stromal corneal dystrophy (macular and granular). Methods: Sixteen eyes with macular corneal dystrophy (MCD; group A) and 10 eyes with granular corneal dystrophy (GCD; group B) underwent successful DALK by big bubble technique or layer-by-layer dissection. Results: Both groups showed significant improvement in their best-corrected visual acuity postoperatively (postoperative P value in MCD and GCD was 0.00001 and 0.0008, respectively) with no statistically significant differences between the two groups (P = 0.77) at 1 year. Postoperative endothelial count did not drop significantly in group A (MCD, P= 0.1553). Only in seven eyes preoperative endothelial count could be obtained (due to dense stromal corneal opacity), but there was a significant endothelial count difference between preoperative and postoperative count in group B (GCD, P= 0.0405) at the end of 1 year postoperatively which could be because of age and stage of disease (advanced granular dystrophy) and also because of small sample size of GCD compared with MCD. Intergroup comparison between the two groups showed no statistically significant difference (P = 0.6353) with good postoperative outcome in both groups. Conclusion: DALK can be successfully done in both groups and results are comparable. However, long-term outcomes on a large scale need to be further evaluated.

Research Progress of Granular Corneal Dystrophy / 现代生物医学进展

Granular corneal dystrophy is a rare autosomal dominant genetic disease in clinic.Due to the TGFBI mutation on the 5q31 chromosome,the TGFBIp abnormally aggregates in the Bowman layer and the matrix layer and metabolic disorders,patients' bilateral cornea arise opacity,making visual acuity Progressive impairment.At present,there are at least 66 TGFBI mutations,at least 10 of which are related to granular corneal dystrophy,due to variation in genotype and the difference between homozygous and heterozygous,the patients' phenotype shows a significant difference.Along with the improvement of people's cognition,and the application of laser scanning confocal microscope and the gene diagnosis,More and more patients get the correct diagnosis,Current treatment methods mainly include corneal transplantation and laser ablation,patients are not satisfied because of the postoperative recurrence and aggravated.Due to the establishment of granular corneal dystrophy animal model,lithium and gene therapy will show a good application prospects.

Evaluating the association of VSX1 mutation with keratoconus and the granular corneal dystrophy in an Iranian family / 国际眼科杂志(Guoji Yanke Zazhi)

AIM: To evaluate association between mutations in the visual system homeobox 1 (VSX1) gene and keratoconus (KCN) complicated with granular corneal dystrophy (GCD), direct sequencing was performed in an Iranian family affected by KCN and GCD in four generations.METHODS: An Iranian pedigree with keratoconus spanning four generations along with GCD was identified.Whole blood sample was used for genomic DNA extraction.The molecular analysis by using polymerase chain reaction (PCR) of the entire coding region and intron-exon boundaries of VSX1 gene was preformed to investigate the possible linkage between KCN and GCD.Subsequently, direct sequencing was used for PCR products and mutation analysis was conducted in the patients and controls.RESULTS: Mutation analysis in VSX1 gene did not detect evidence for association between KCN and GCD diseases and VSX1 gene.Our data excluded VSX1 as the disease-causing gene for KCN/GCD in this specific pedigree.CONCLUSION: Despite of no association between KCN patients with GCD and VSX1 gene variations, other probable genes involved in pathogenesis of the KCN and GCD diseases need to be investigated in the patients.

Phototherapeutic keratectomy for recurrent granular dystrophy in postpenetrating keratoplasty eyes.

Purpose: The purpose is to assess the clinical and visual outcome after phototherapeutic keratectomy (PTK) procedure in eyes with prior penetrating keratoplasty (PKP) for granular corneal dystrophy (GCD) and the time of performance of repeat PTK for recurrence. Methods: PTK was performed for visually significant recurrence: A reduction in best‑corrected visual acuity (BCVA) by >2 lines over BCVA before recurrence was considered as visually significant recurrence. Three eyes had amniotic membrane patch performed with PTK. The main outcome measures were a recurrence of GCD, clinical course, and visual outcome. Intervals between repeat PTK procedures were noted. Results: Six patients (n = 10 eyes; males: 4, mean age 39 ± 13.97 years) underwent PTK. The mean pachymetry before first PTK was 527.1 ± 34 microns. The mean duration between PKP and first PTK was 85.1 months (range: 37–108 months). Two and three PTK procedures were done for seven and five eyes, respectively. Mean duration between first and second and second and third PTK was 62.12 ± 34.41 and 42.8 ± 13.54 months respectively. The average cut depth was 43.66 ± 19.57, 75 ± 43.30 and 39 ± 19.79 microns after the first, second and third PTK procedures, respectively. All eyes had a corneal haze. Prefirst PTK mean BCVA was 20/200 and improved significantly after the first two PTK procedures to 20/40 and after the third PTK procedure to 20/32 (P < 0.001). Five eyes had hyperopia. One acute graft rejection was managed successfully at 5 months with medical therapy. Conclusion: Multiple PTK procedures can be performed safely with improved visual acuity in grafts without compromising graft survival.

Distrofia corneal granular / Granular corneal dystrophy

Las distrofias corneales constituyen un conjunto de enfermedades que presentan, en su mayoría, una baja incidencia y se caracterizan por acúmulo de material hialino o amiloide que disminuyen la transparencia corneal. La distrofia granular es una enfermedad autosómica dominante que presenta opacidades grises en el estroma superficial central de la córnea y se hacen visibles en la primera y segunda décadas de la vida, lo que provoca disminución de la visión más significativa cerca de los 40 años de edad. Presentamos dos casos clínicos de distrofia granular en pacientes hermanos de diferentes sexos, quienes acudieron a la consulta y refirieron visión nublada. El estudio de la historia familiar nos ayuda en el correcto diagnóstico y la biomicroscopia constituye el elemento más importante(AU)

Corneal dystrophies are a group of diseases that mostly have low incidence rates and are characterized by accumulation of hyaline or amyloid material that reduces the corneal transparency. Granular dystrophy is a dominant autosomal disease with gray opacities in the central superficial stroma of cornea, which are visible in the first and second decades of life and leads to significantly reduced vision when going into the 40 years of age. Here are two clinical cases of granular dystrophy in a pair of siblings who went to the doctor's because of blurred vision. The study of the family history helps the physician to reach a right diagnosis and the most important element is biomicroscopy(AU)

Clinical Outcomes of Combined Photorefractive Keratectomy and Cataract Surgery in Patients with Granular Corneal Dystrophy

PURPOSE: To evaluate the efficacy of combined photorefractive keratectomy (PRK) and cataract surgery in granular corneal dystrophy (GCD) patients with corneal stromal haziness compromising vision and cataract and clinically significant lens opacity. METHODS: Medical records of 12 eyes that underwent PRK and cataract surgery between August 2009 and November 2013 in patients with GCD and cataracts were retrospectively evaluated. All PRKs were performed with the VISX S4 IR (VISX, Santa Clara, CA, USA). The double K SRK-T formula or double K Hoffer Q formula and postoperative corrected K were utilized to determine the intraocular lens power in patients with prior PRK. Postoperative best corrected visual acuity (BCVA), spherical equivalent, presence of the central island using topography analysis and recurrence of corneal opacity after combined PRK and cataract surgery were evaluated. RESULTS: In all eyes, the PRK was successful and 3 eyes showed recurrence of corneal opacities without visual impairment during a mean follow-up of 36.6 months. The mean BCVA improved with an average increase of 4.63 lines (minimum 1 line, maximum 9 lines) and no patient showed any BCVA loss. Final spherical equivalent was -0.56 diopter (D) and the corneal central island was reported in only 1 eye. The Maloney method using the double-K formula with the SRK/T formula showed the lowest absolute error of 0.33 +/- 0.25 D. CONCLUSIONS: Combined PRK and cataract surgery are effective methods for improving BCVA if patients with GCD have both visually significant diffuse corneal haze and clinically significant lens opacity.

Mutation Analysis of the TGFBI Gene in Consecutive Korean Patients With Corneal Dystrophies

BACKGROUND: Mutations in the transforming growth factor beta-induced gene (TGFBI) are major causes of genetic corneal dystrophies (CDs), which can be grouped into TGFBI CDs. Although a few studies have reported the clinical and genetic features of Korean patients with TGFBI CD, no data are available regarding the frequency and spectrum of TGFBI mutations in a consecutive series of Korean patients with clinically diagnosed CDs. METHODS: Patients with any type of CD, who underwent both ophthalmologic examination and TGFBI gene analysis by Sanger sequencing at a tertiary care hospital in Seoul, Korea from 2006 to 2013, were enrolled in this study. RESULTS: Among a total of 89 patients, 77 (86.5%) were diagnosed as having clinical TGFBI CD. Seventy-three out of 74 patients (98.6%) with granular CD type 2 (GCD2), had the p.R124H mutation. Of particular note, one patient with rapidly progressive CD had the p.R124H mutation as well as a novel nonsense variant with unknown clinical significance (p.A179*). In three patients with lattice CD type 1 (LCD1), one known mutation (p.R124C) and two novel variants (p.L569Q and p.T621P) in the TGFBI gene were identified. CONCLUSIONS: This study provides epidemiological insight into CDs in a Korean population and reaffirms that GCD2 is the most common TGFBI CD phenotype and that p.R124H is the only mutation identified in patients with GCD2. In addition, we broaden the spectrum of TGFBI mutations by identifying two novel missense variants in patients with LCD1.

Preliminary clinical observation of PTK assisted by anterior segment OCT in the treatment of granular corneal dystrophy / 国际眼科杂志(Guoji Yanke Zazhi)

AIM: To investigate the preliminary clinical observation of excimer laser phototherapeutic keratectomy ( PTK ) assisted by anterior segment optical coherence tomography ( OCT ) in the treatment of non II type granular corneal dystrophy. METHODS: A retrospective case series were studied. Totally 8 patients ( 12 eyes ) who were diagnosed as granular corneal dystrophy underwent PTK from April 2011 to January 2013 in our hospital. All patients were excluded from the II type granular corneal dystrophy ( Avellino corneal dystrophy ) by the Avellino corneal dystrophy rapid diagnostic kit and underwent preoperative anterior segment OCT examination, so as to determine the lesion morphology and depth, and used to guide the setting of PTK parameters. They were followed up for the complications after operation, postoperative recurrence, the recovery of visual acuity. RESULTS: All patients were followed up for 6-12mo, average 9mo after operation. All patients' best corrected visual acuity were significantly improved, superficial corneal opacity lesions were effectively removed, and the corneal opacity recurrence or serious Haze were not found during the follow-up period after operation. CONCLUSION: In patients with non type II granular corneal dystrophy, PTK assisted by anterior segment OCT can be accurate, effective removal of corneal lesions, obtain good effect after operation.

Alcohol epitheliectomy with mechanical debridement in a case of granular corneal dystrophy with r555w homozygous mutation of TGF B1 gene.

An eight-year-old girl, an offspring of a consanguineous marriage presented with multiple anterior stromal geographic corneal opacities in both eyes. She was diagnosed to have superficial variant of granular dystrophy based on the family history, clinical features and mutation of TGF B1 gene. She was treated by alcohol-assisted removal of epithelium followed by mechanical debridement of abnormal deposits. Postoperatively, the cornea in both eyes was clear with no trace of opacity and the patient had an unaided visual acuity of 20/20 partial.

Phototherapeutic Keratectomy for Granular Corneal Dystrophy

PURPOSE: In this study, we evaluated the results of PTK(phototherapeutic keratectomy) for granular corneal dystrophy. METHODS: 5 eyes (4 patients) with granular corneal dystrophy were treated by PTK using Summit ExiMed UV200 and VSIX Star excimer laser systems. The epithelium was removed mechanically with a surgical blade. We used methylcellulose 1.0% as a surface modulator before laser ablation. Focal ablations of the central cornea with an ablation zone of 6.0 mm were performed. Mean ablation depth was 105 +/- 15.81 micrometer (range; 80~120 micrometer) Additional hyperopic PRK was performed on 4 eyes out of 5 eyes at the corneal mid-periphery up to maximum +5.00 D to prevent post-PTK hyperopic shift. Mean follow up period was 54.4 +/- 23.43months (range; 24~84months). RESULTS: Removal of corneal opacities allowed for improvement in both uncorrected visual acuity and best corrected visual acuity in all patients. There was an improvement in best-corrected visual acuity of a mean of 2.6 lines on the Snellen chart. Mean corneal thickness in the area of pathology decreased from 490.5 micrometer before surgery to 391.5 micrometer after surgery. There was a hyperopic shift in all the eyes in spite of additional hyperopic PRK by a mean of +2.44 +/- 0.99 D. There was mild recurrent dystrophic change in an eye but not significant enough to affect visual acuity during the follow up period. No major complications developed in any patients. CONCLUSIONS: Our results suggest that PTK is a safe and effective alternative to penetrating and lamellar keratoplasty in patients with granular corneal dystrophy. Mild post-PTK hyperopic shift occurred in all patients in spite of combined hyperopic PRK up to maximum +5.00 D correction at the corneal mid- peripheral zone according to the refractive powers.