Corneal irregularity and visual function using anterior segment optical coherence tomography in TGFBI corneal dystrophy.

The purpose of this study was to evaluate corneal irregular astigmatism of patients with granular and lattice corneal dystrophy (GCD and LCD). 70 GCD, 35 LCD, and 81 control eyes were included. Anterior and posterior corneal topographic data obtained from anterior segment optical coherence tomography were expanded into four components via Fourier harmonic analysis. These components were compared with healthy eyes and the association between each component and best-corrected visual acuity (BCVA) was investigated. Anterior and posterior components increased in both GCD and LCD eyes. Anterior and posterior components of GCD2, anterior of LCD type 1 (LCD1), posterior of LCD type IIIA (LCD 3A), and type IV (LCD4) significantly increased. BCVA was significantly associated with anterior and posterior components in LCD eyes but not in GCD. The anterior components of LCD1, anterior and posterior of LCD3A, and posterior of LCD4 , were positively correlated with BCVA. As conclusions, in GCD eyes, anterior and posterior components differed from those of the control but BCVA was not significantly associated with them. In LCD eyes, the anterior and posterior components increased, and BCVA was significantly associated with the anterior and posterior components.

Foveolar thickness as potential standardized structural outcome measurement in studies of Bietti crystalline dystrophy.

Bietti crystalline dystrophy (BCD) is an ultra-rare orphan disorder that can lead to blindness. Because of the variable rates of progression of the disease, it is necessary to identify suitable outcome measurements for tracking progression in BCD. A retrospective analysis of patients with a clinical and genetic diagnosis of BCD was conducted. Four measurements of spectral domain-optical coherence tomography were compared to patients' best corrected visual acuity. We observed that patients with higher measurements of foveolar thickness, choroidal thickness in the foveolar region, ellipsoid zone band length and the outer nuclear layer + area, had on average better visual acuity. Future studies are needed to validate the structural-functional correlations we observed in BCD and to propose a sensitive and clinically meaningful outcome measurement for tracking this rare, variable disease.

Multimodal ocular imaging of known and novel corneal stromal disorders in dogs.

BACKGROUND: Imaging features obtained with Fourier-domain optical coherence tomography (FD-OCT) and in vivo confocal microscopy (IVCM) for corneal stromal disorders have been sparsely reported in dogs. This case report is a compilation of imaging features for three cases of different stromal disorders of the canine cornea which have not yet been reported elsewhere. CASE PRESENTATION: Lipid deposition in case 1 appeared as needle-shaped hyperreflective lines along the collagen lamellae, which correlated histologically with lipid clefts. In case 2, glycosaminoglycan accumulation by mucopolysaccharidosis type 1 caused diffuse stromal hyperreflectivity and depletion of keratocytes on IVCM and was associated with secondary corneal degeneration presumed to be calcium deposition. In case 3, posterior corneal stromal opacities in the absence of ocular inflammation were identified. Hyperreflective particles were scattered in the middle and posterior corneal stroma on FD-OCT. With IVCM, hyperreflective deposits were identified within keratocytes and the number of enlarged keratocytes containing hyperreflective deposits increased towards the posterior stroma. The bilateral, non-inflammatory nature and unique appearance with IVCM is most consistent with a posterior stromal dystrophy reminiscent of pre-Descemet corneal dystrophy described in humans. CONCLUSIONS: In vivo multimodal corneal imaging facilitated instantaneous microstructural analysis and may be valuable in the differential diagnosis of corneal stromal disorders in veterinary clinical practice. The non-specific nature of imaging findings occurs in some conditions such as mucopolysaccharidosis, thus in vivo corneal imaging should be complemented with other gold standard methods of definitive diagnosis.

Analysis of Radial Peripapillary Capillary Density in Patients with Bietti Crystalline Dystrophy by Optical Coherence Tomography Angiography.

OBJECTIVE: We wanted to investigate the radial peripapillary capillary (RPC) network in patients with Bietti crystalline dystrophy (BCD). METHODS: We compared RPC densities in the disk and different peripapillary regions, obtained using optical coherence tomography angiography in 22 patients with BCD (37 eyes) and 22 healthy subjects (37 eyes). The BCD group was then divided into Stage 2 and Stage 3 subgroups based on Yuzawa staging, comparing the RPC densities of the two. RESULTS: The disk area RPC density was 38.8% ± 6.3% in the BCD group and 49.2% ± 6.1% in the control group ( P < 0.001), and peripapillary region RPC density was significantly lower in the BCD group than in the control group (49.1% ± 4.7% and 54.1% ± 3.0%, respectively, P < 0.001). There were no significant RPC density differences between the tempo quadrant and inside disk of Stages 2 and 3 subgroups; the other areas showed a significantly lower RPC density in Stage 3 than in Stage 2 BCD. CONCLUSION: The BCD group RPC density was significantly lower than the control group. The reduction of RPC density in the tempo quadrant occurred mainly in the Stage 1 BCD. In contrast, the reduction of RPC density in superior, inferior, and nasal quadrants occurred mainly in Stage 2.

CHORIORETINAL ATROPHY IN VITREORETINAL LYMPHOMA: Risk Factors and Visual Outcomes.

PURPOSE: To investigate the frequency, risk factors, and functional prognosis of chorioretinal atrophy (CRA) in vitreoretinal lymphoma (VRL). METHODS: This was a retrospective cohort study of consecutive patients with vitreoretinal lymphoma. The demographic, clinical, and retinal features and the treatment modalities of each patient were collected. The charts and the multimodal imaging at each visit were reviewed. The risk factors associated with CRA were investigated with a mixed-model Cox regression. RESULTS: Of the 79 eyes of 40 patients included, 41 eyes (52%) had CRA; 27 and 14 eyes had focal and diffuse CRA, respectively. The rate of vitreoretinal lymphoma lesions in the macula was similar between focal and diffuse CRA (96% vs. 93%). The eyes with CRA had worse best-corrected visual acuity (P = 0.006) than eyes with no CRA; diffuse atrophy had the worst best-corrected visual acuity (P < 0.001). The presence of retinal infiltrates (hazard ratio = 3.75, 95% confidence interval [CI] 1.46-9.59, P = 0.006) and vertical hyperreflective lesions (hazard ratio= 4.13 95% CI 1.14-14.93, P = 0.03) on optical coherence tomography and macular involvement (hazard ratio = 6.59, 95% CI 1.41-30.53, P = 0.02) were associated with a higher risk of CRA. CONCLUSION: Vitreoretinal lymphoma presenting with retinal infiltrates and macular involvement carried a higher risk of CRA. Risk factors for CRA should be identified for the potential of severe visual loss. Prompt diagnosis of vitreoretinal lymphoma may allow better control of the disease.

[Imaging features of posterior polymorphous corneal dystrophy observed by in vivo confocal microscopy].

Objective: To identify and analyze imaging features of posterior polymorphous corneal dystrophy (PPCD) by in vivo confocal microscopy (IVCM). Methods: This retrospective case series enrolled 27 eyes of 18 patients (including 10 males and 8 females) who were diagnosed with PPCD at the Department of Ophthalmology in Peking University Third Hospital between January 2013 and December 2019. The mean age was (23.61±14.81) years. There were 9 monocular and 9 binocular cases. All patients were examined by slit-lamp biomicroscopy and IVCM. The visual acuity, the mean endothelial cell density, and the images of IVCM were analyzed in all cases. Results: The mean best-corrected visual acuity was 0.76±0.33, and the mean endothelial cell density was (1 723.6±698.3) cells/mm2. The IVCM images of type 1 PPCD (vesicular lesions) showed hyperreflective, placoid or homocentric lesions at the level of the Descemet's membrane, hyporeflective, oval or round lesions at the level of the Descemet's membrane, and hyporeflective, crater-like lesions at the level of the endothelial cell layer. The IVCM images of type 2 PPCD (band lesions) displayed hyperreflective, band lesions and a fibrous strand structure at the level of the Descemet's membrane, hyporeflective, vesicular lesions at the level of the Descemet's membrane, and hyporeflective, trough-and ridge-like lesions at the level of the endothelial cell layer. The IVCM images of type 3 PPCD (geographic placoid opacities) showed loss of the hexagonal features of endothelial cells and epithelial-like cell transformation. Conclusions: PPCD primarily affects the endothelium and Descemet's membrane. IVCM could highlight the special characteristics of PPCD including hyperreflective lesions at the level of the Descemet's membrane, hyporeflective lesions at the level of the endothelial cell layer, and epithelial-like cell transformation of endothelial cells. IVCM is an invaluable tool for clinical diagnosis and dynamic monitoring of PPCD.

Association of macular corneal dystrophy with excessive cell senescence and apoptosis induced by the novel mutant CHST6.

Macular corneal dystrophy (MCD) is a rare form of hereditary corneal dystrophy caused by CHST6 mutations. Owing to the genetic heterogeneity and population differences among patients with MCD, the genetic cause of MCD has not been fully elucidated, and the pathogenesis underlying the genetic mutation is still unclear. In this study, Chinese families and sporadic patients were included as subjects, and clinical and genetic analyses were performed to detect novel CHST6 mutations. In addition, the underlying pathogenic mechanisms of MCD were investigated by in vitro cell experiments. Two consanguineously married families and 10 sporadic patients with MCD were enrolled. Direct sequencing of the CHST6 gene was performed in all the patients to identify novel mutations. Wild-type and mutant overexpression cell lines were constructed to study the effects of the mutation in vitro. The expressions of endoplasmic reticulum (ER) stress markers and apoptotic factors, cell senescence, and migration levels tests were performed in different overexpression cell lines. As a result, four novel mutations (R155Afs*66, S84Cfs*17, E71G, and E71Q) and 10 previously reported mutations in the CHST6 gene were identified. Among the reported mutations, the most frequent mutations detected in the patients were L21Rfs*88 (4/14) and L21H (4/14). All the novel mutations were absent in the 50 healthy controls and were predicted to alter highly conserved amino acids across the different species and considered to be "disease causing" by function prediction. The results of the in vitro cell experiment further demonstrated that the novel homozygous frameshift mutations (S84Cfs*17 and R155Afs*66) of CHST6 detected in the consanguineously married families could lead to truncated proteins with defect functions, higher ER stress and apoptotic levels, decreased cell migration, and excessive cell senescence in corneal stromal cells, thereby affecting the normal functions of corneal stromal cells. These changes might play important roles in corneal opacity, which is characteristic of corneas with MCD. Our study extended the existing spectrum of disease-causing mutations and further elucidated the underlying pathogenic mechanisms of MCD.

A novel duplication involving PRDM13 in a Turkish family supports its role in North Carolina macular dystrophy (NCMD/MCDR1).

Purpose: To clinically and molecularly investigate a new family with North Carolina macular dystrophy (NCMD) from Turkey, a previously unreported geographic origin for this phenotype. Methods: Clinical ophthalmic examinations, including fundus imaging and spectral domain-optical coherence tomography (SD-OCT), were performed on eight members of a two-generation non-consanguineous family from southern Turkey. Whole genome sequencing (WGS) was performed on two affected subjects, followed by variant filtering and copy number variant (CNV) analysis. Junction PCR and Sanger sequencing were used to confirm and characterize the duplication involving PRDM13 at the nucleotide level. The underlying mechanism was assessed with in silico analyses. Results: The proband presented with lifelong bilateral vision impairment and displayed large grade 3 coloboma-like central macular lesions. Five of her six children showed similar macular malformations, consistent with autosomal dominant NCMD. The severity grades in the six affected individuals from two generations are not evenly distributed. CNV analysis of WGS data of the two affected family members, followed by junction PCR and Sanger sequencing, revealed a novel 56.2 kb tandem duplication involving PRDM13 (chr6:99560265-99616492dup, hg38) at the MCDR1 locus. This duplication cosegregates with the NCMD phenotype in the five affected children. No other (likely) pathogenic variants in known inherited retinal disease genes were found in the WGS data. Bioinformatics analyses of the breakpoints suggest a replicative-based repair mechanism underlying the duplication. Conclusions: We report a novel tandem duplication involving the PRDM13 gene in a family with NCMD from a previously unreported geographic region. The duplication size is the smallest that has been reported thus far and may correlate with the particular phenotype.

Automatic segmentation of corneal deposits from corneal stromal dystrophy images via deep learning.

BACKGROUND: Granular dystrophy is the most common stromal dystrophy. To perform automated segmentation of corneal stromal deposits, we trained and tested a deep learning (DL) algorithm from patients with corneal stromal dystrophy and compared its performance with human segmentation. METHODS: In this retrospective cross-sectional study, we included slit-lamp photographs by sclerotic scatter from patients with corneal stromal dystrophy and real-world slit-lamp photographs via various techniques (diffuse illumination, tangential illumination, and sclerotic scatter). Our data set included 1007 slit-lamp photographs of semi-automatically generated handcraft masks on granular and linear lesions from corneal stromal dystrophy patients (806 for the training set and 201 for test set). For external test (140 photographs), we applied the DL algorithm and compared between automated and human segmentation. For performance, we estimated the intersection of union (IoU), global accuracy, and boundary F1 (BF) score for segmentation. RESULTS: In 201 internal test set, IoU, global accuracy, and BF score with 95 % confidence Interval were 0.81 (0.79-0.82), 0.99 (0.98-0.99), and 0.93 (0.92-0.95), respectively. In 140 heterogenous external test set as a real-world data, those were 0.64 (0.61-0.67), 0.95 (0.94-0.96), and 0.70 (0.64-0.76) via DL algorithm and 0.56 (0.51-0.61), 0.95 (0.94-0.96), and 0.70 (0.65-0.74) via human rater, respectively. CONCLUSIONS: We developed an automated segmentation DL algorithm for corneal stromal deposits in patients with corneal stromal dystrophy. Segmentation on corneal deposits was accurate via the DL algorithm in the well-controlled dataset and showed reasonable performance in a real-world setting. We suggest this automatic segmentation of corneal deposits helps to monitor the disease and can evaluate possible new treatments.

Role of Anterior Segment OCT for Descemet Membrane Stripping During Descemet Membrane Endothelial Keratoplasty in Eyes With Congenital Hereditary Endothelial Dystrophy.

PURPOSE: To report the utility of preoperative anterior segment optical coherence tomography (ASOCT) in decision-making for stripping of the Descemet membrane (DM) during Descemet membrane endothelial keratoplasty (DMEK) in eyes with congenital hereditary endothelial dystrophy (CHED). METHODS: ASOCT was performed in eyes with CHED undergoing DMEK. Host DM was retained if the DM appearance was normal on ASOCT. Outcomes of DMEK with or without DM stripping (non DM stripping [DMEK]) were analyzed and compared regarding graft adhesion, graft clarity, visual acuity, and complications. RESULTS: Twelve eyes of 8 patients were included in the series. Of these, 6 eyes (mean age, 6 ± 2.6 years, range 3-8 years) underwent nDMEK and 6 eyes (mean age, 23.6 ± 10.2 years, range 13-39 years) underwent standard DMEK. There were no intraoperative complications in either group. During the early postoperative period, one eye in the nDMEK group had donor detachment that was successfully managed by repeat air injection. The mean preoperative and postoperative corrected visual acuities were 1.15 and 0.37 logarithm of the minimum angle of resolution (LogMAR) in the nDMEK group, and 0.95 and 0.25 LogMAR in the DMEK group (P 0.39 and 0.06). Average endothelial cell counts were 1826 ± 318 cell/mm in the nDMEK group (32.3% loss), and 1708 ± 271 cells/mm in the DMEK group (33.6% loss) at the last follow-up. CONCLUSIONS: Preoperative anterior segment OCT is useful in decision-making regarding stripping of host DM during DMEK in eyes with CHED. The outcomes of nDMEK were similar to DMEK in this small series.

Clinical Characteristics of Highly Myopic Patients With Asymmetric Myopic Atrophic Maculopathy-Analysis Using Multimodal Imaging.

Purpose: To evaluate the factors associated with asymmetric myopic atrophic maculopathy (MAM) in highly myopic patients. Methods: We enrolled highly myopic patients with asymmetric MAM according to the atrophy, traction, and neovascularization (ATN) classification. The results of color fundus photography, optical coherence tomography (OCT), OCT angiography, and corneal visualization Scheimpflug technology (Corvis ST tonometry) were reviewed. The association between inter-eye differences in clinical features and MAM grading was analyzed using logistic regression analysis. Results: Among the 72 eyes of 36 patients 61.0 ± 9.3 years of age, 9, 33, 17, and 13 eyes had A1, A2, A3, and A4, respectively. The mean axial length was 30.44 ± 1.92 mm, and there was no significant difference between eyes with less severe and more severe MAM. The inter-eye differences in MAM grading were associated with the inter-eye differences in the presence of Bruch's membrane defects (P = 0.014), ellipsoid zone disruption (P = 0.013), vessel density of the deep retinal layer (P = 0.022), foveal avascular zone circularity (P = 0.012), foveal avascular zone area (P = 0.049), flow area of the choriocapillaris (P = 0.013), vessel diameter (P = 0.045), and fractal dimension (P = 0.015). No Corvis ST parameter was statistically significant. A higher difference in the choriocapillaris flow area (P = 0.013; adjusted odds ratio = 1.10 [1.02-1.18]) remained associated with higher inter-eye differences in MAM grading in the multivariable regression. Conclusions: A smaller choriocapillaris flow area was associated with more severe MAM, suggesting that vascular factors play pivotal roles in MAM.

Tomografía de coherencia óptica de segmento anterior en la distrofia corneal de Reis-Bücklers / Anterior segment optical coherence tomography in Reis-Bücklers corneal dystrophy

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CHOROIDAL NEOVASCULARIZATION IN NORTH CAROLINA MACULAR DYSTROPHY RESPONSIVE TO ANTI-VASCULAR ENDOTHELIAL GROWTH FACTOR THERAPY.

PURPOSE: To report a new family with North Carolina macular dystrophy including a patient with choroidal neovascularization (CNV). METHODS: Diagnostic modalities included fundus imaging, fluorescein angiography, optical coherence tomography, and genetic testing. The CNV was treated with intravitreal anti-vascular endothelial growth factor according to a treat-and-extend protocol in both eyes. RESULTS: A 60-year-old man presented with North Carolina macular dystrophy with decreasing vision in the left eye and persistently deceased central vision in the right eye. Optical coherence tomography examination showed intraretinal and subretinal fluid consistent with CNV. Genetic testing was performed. Examination of family members showed no signs of CNV. The visual acuity improved from 20/400 to 20/150 in the right eye and from 20/100 to 20/40 in the left eye after intravitreal bevacizumab treatment for CNV. Molecular analysis of the PRDM13 gene revealed a pathogenic heterozygous point mutation. CONCLUSION: Recognition and treatment of CNV in North Carolina macular dystrophy can result in improved vision. Genetic testing of the PRDM13 gene can confirm a molecular diagnosis for North Carolina macular dystrophy.

Tuck In Femtosecond Laser Assisted Anterior Lamellar Keratoplasty (T-FALK) for the Management of Superficial Anterior Corneal Scars-A Modified Technique.

PURPOSE: To report a modified sutureless and glue-less technique, termed tuck in femtosecond laser assisted anterior lamellar keratoplasty (T-FALK), and to achieve a good graft-host junction apposition. METHODS: This is a prospective interventional case series of 15 eyes of 15 patients who underwent T-FALK. Depth of the anterior corneal scar was assessed using anterior segment optical coherence tomography (ASOCT). The donor and recipient lenticules were prepared using femtosecond laser. After removing the recipient anterior scarred lenticule, the transparent donor lenticule was positioned on the recipient bed and margins tucked in under the recipient cornea. A bandage contact lens was applied for 3 weeks. Postoperatively, topical antibiotic and steroid combination eye drops were given, and the assessment of healing of the graft-host junction was done using ASOCT. RESULTS: A total of 15 patients (8 men and 7 women) underwent T-FALK. Six patients had superficial corneal opacities after healed microbial keratitis, 5 patients had spheroidal corneal degeneration, 3 patients had Salzman nodular degeneration, and 1 patient had vortex keratopathy. No intraoperative or postoperative complications were noted during T-FALK. All patients had good graft-host junction apposition postoperatively, as demonstrated by ASOCT. CONCLUSIONS: Sutureless and glue-less T-FALK can be the best way ahead for management of superficial anterior corneal scars with good visual outcome.

A unique PRDM13-associated variant in a Georgian Jewish family with probable North Carolina macular dystrophy and the possible contribution of a unique CFH variant.

Purpose: North Carolina macular dystrophy (NCMD) is an autosomal dominant maculopathy that is considered a non-progressive developmental disorder with variable expressivity. Our study aimed to clinically and genetically characterize macular dystrophy in a family (MOL1154) consisting of six affected subjects with a highly variable maculopathy phenotype in which no correlation between age and severity exists. Methods: Clinical characterization included visual acuity testing and electroretinography. Genetic analysis included Sanger sequencing and whole exome sequencing (WES). Results: WES analysis performed on DNA samples from two individuals revealed a heterozygous deletion of six nucleotides [c.2247_2252del; p.(Leu750_Lys751del)] in the CFH gene. Co-segregation analysis revealed that five of the six NCMD affected subjects carried this deletion, while one individual who had a relatively mild phenotype compatible with dry age-related macular degeneration (AMD) did not carry it. We subsequently analyzed the upstream region of PRDM13 that has previously been reported to be associated with NCMD and identified a unique heterozygous transversion (chr6:100040974A>C) located within the previously described suspected control region in all six affected individuals. This transversion is likely to cause NCMD. Conclusions: NCMD has a wide spectrum of clinical phenotypes that can overlap with AMD, making it challenging to correctly diagnose affected individuals and family members. The DNA sequence variant we found in the CFH gene of some of the affected family members may suggest some role as a modifier gene. However, this variant still does not explain the huge phenotypic variability of NCMD and needs to be studied in other and larger populations.

Optical coherence tomography and optical coherence tomography angiography imaging in Bietti crystalline dystrophy.

Background: Bietti crystalline dystrophy (BCD) is a rare autosomal recessive disorder due to genetic defect in the CYP4V2 gene. BCD is a disease characterized by shiny yellow crystalline deposits in the retina with progressive atrophy of the retinal pigment epithelium and choriocapillaris. Our aim is to present ocular imaging findings of a patient with BCD.Materials and Metods: A 38-year-old female patient with BCD was evaluated and the findings of optical coherence tomography (OCT) and optical coherence tomography angiography (OCTA) were examined.Results: OCT imaging revealed multiple outer retinal tubulations (ORTs) with a few hyperreflective crystalline deposits. OCTA imaging showed that the vessel density of superficial anddeep capillary plexus and choriocapillaris blood flow were significantly decreased. ORTs were composedof multiple microtubules as finger-like protrusions that joined the macrotubules.Conclusion: In BCD, crystallinedeposits, ORTs and retinal vascular morphology can be shown in detail using OCT and OCTA.

Evidence of autophagic vesicles in a patient with Lisch corneal dystrophy / Evidência de vesículas autofágicas em paciente com distrofia corneana de Lisch

ABSTRACT Lisch corneal dystrophy is a rare corneal disease characterized by the distinctive feature of highly vacuolated cells. Although this feature is important, the nature of these vacuoles within corneal cells remains unknown. Here, we sought to analyze corneal cells from a patient diagnosed with Lisch dystrophy to characterize the vacuoles within these cells. Analyses using histopathology examination, confocal microscopy, and transmission electron microscopy were all consistent with previous descriptions of Lisch cells. Importantly, the vacuoles within these cells appeared to be autophagosomes and autolysosomes, and could be stained with an anti-microtubule-associated protein 1A/1B-light chain 3 (LC3) antibody. Taken together, these findings indicate that the vacuoles we observed within superficial corneal cells of a patient with Lisch corneal dystrophy constituted autophagosomes and autolysosomes; this finding has not been previously reported and suggests a need for further analyses to define the role of autophagy in this ocular disease.

RESUMO A distrofia corneana de Lisch é uma doença rara, caracterizada principalmente pela presença de células altamente vacuoladas. Embora esta característica seja importante, a natureza desses vacúolos dentro das células da córnea permanece des conhecida. Aqui, procuramos analisar as células da córnea de um paciente diagnosticado com distrofia de Lisch para caracte rizar os vacúolos dentro dessas células. Análises utilizando exame histopatológico, microscopia confocal e microscopia eletrônica de transmissão foram todas consistentes com descrições previas de células de Lisch. Importante, os vacúolos dentro dessas células pareciam ser autofagossomos e autolisossomos, e po deriam ser corados com um anticorpo proteico 1A/1B-cadeia leve 3 (LC3) da proteína anti-microtúbulo associado a microtúbulos. Em conjunto, esses achados indicam que os vacúolos observados nas células superficiais da córnea de um paciente com distrofia corneana de Lisch constituíram autofagossomos e autolisossomos. Esse achado não foi relatado anteriormente e sugere a necessidade de mais análises para definir o papel da autofagia nessa doença ocular.

Evidence of autophagic vesicles in a patient with Lisch corneal dystrophy.

Lisch corneal dystrophy is a rare corneal disease characterized by the distinctive feature of highly vacuolated cells. Although this feature is important, the nature of these vacuoles within corneal cells remains unknown. Here, we sought to analyze corneal cells from a patient diagnosed with Lisch dystrophy to characterize the vacuoles within these cells. Analyses using histopathology examination, confocal microscopy, and transmission electron microscopy were all consistent with previous descriptions of Lisch cells. Importantly, the vacuoles within these cells appeared to be autophagosomes and autolysosomes, and could be stained with an anti-microtubule-associated protein 1A/1B-light chain 3 (LC3) antibody. Taken together, these findings indicate that the vacuoles we observed within superficial corneal cells of a patient with Lisch corneal dystrophy constituted autophagosomes and autolysosomes; this finding has not been previously reported and suggests a need for further analyses to define the role of autophagy in this ocular disease.