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.

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.

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.

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.

Microscopia confocal no auxílio diagnóstico de Distrofia Corneana de Schnyder / In vivo confocal microscopy as a diagnostic tool in Schnyder Corneal Dystrophy's case

Resumo Neste relato, descrevemos um caso de Distrofia corneana de Schnyder que apresentou o desfecho de seu diagnóstico baseado em achados característicos na microscopia confocal, ferramenta que se aponta em destaque no universo oftalmológico.

Abstract Schnyder's corneal dystrophy (SCD) is a rare corneal condition characterized by cholesterol and phospholipids deposition in the stroma and Bowman's layer. We present a case report of a patient who had a progressive corneal stromal haze in both eyes since he was 15 years old. Etiological diagnosis of SCD was well established by In Vivo Confocal Microscopy (IVCM).

Sutureless Customized Lamellar Corneal Transplant in a Patient with Gelatinous Drop-Like Corneal Dystrophy.

Patients with gelatinous drop-like corneal dystrophy need to be effectively managed as the disease is severely debilitating in view of associated pho-tophobia and glare. Here, we report a rare case of gelatinous drop-like corneal dystrophy effectively managed by intraoperative anterior segment optical coherence tomography-guided manual deep anterior lamellar keratoplasty in 1 eye and sutureless fibrin glue-aided, microkeratome-assisted automated lamellar therapeutic keratoplasty in the other eye. The patient, a 22-year old man, presented with gradual diminution of vision associated with foreign body sensation, glare, photophobia, and watering due to corneal lesions, which were consistent with a diagnosis of gelatinous drop-like corneal dystrophy. Visual acuity at pre-sentation was 4/60 and 3/60 in the right and left eye, respectively. The patient received customized component lamellar keratoplasty in both eyes, and host tissue was sent for histopathologic examination. Treatment resulted in a best-corrected distance visual acuity of 6/9 and 6/12 in the right and left eye, respectively. The graft was clear and well apposed, with minimal interface haze bilaterally. The histopathologic report suggested intralamellar amyloid deposition in the form of homogenous, acellular eosinophilic deposits in the epithelium and anterior corneal stroma. This is a first report of the exclusive use of a fibrin-aprotinin tissue adhesive to stabilize a donor corneal lamellar graft as a treatment modality for a patient with gelatinous drop-like corneal dystrophy, suggesting that this treatment could supplant the need for sutures.

Myocardial tissue characterization in patients with hereditary gelsolin (AGel) amyloidosis using novel cardiovascular magnetic resonance techniques.

Gelsolin (AGel) amyloidosis is a hereditary condition with common neurological effects. Myocardial involvement, especially strain, T1, or extracellular volume (ECV), in this disease has not been investigated before. Local myocardial effects and possible amyloid accumulation were the targets of interest in this study. Fifty patients with AGel amyloidosis were enrolled in the study. All patients underwent cardiovascular magnetic resonance imaging, including cine imaging, T1 mapping, tagging, and late gadolinium enhancement (LGE) imaging at 1.5 T. Results for volumetry, myocardial feature-tracking strain, rotation, torsion, native T1, ECV, and LGE were investigated. The population mean native T1 values in different segments of the left ventricle (LV) varied between 1003 and 1080 ms. Myocardial mean T1 was 1031 ± 37 ms. T1 was highest in the basal plane of the LV (1055 ± 40 ms), similarly to ECV (30.0% ± 4.4%). ECV correlated with native T1 in all LV segments (p < 0.005). Basal LGE was detected in 76% of patients, and mid-ventricular LGE in 32%. LV longitudinal strain was impaired (- 17.4% ± 2.6%), significantly decreasing apical rotation (p = 0.018) and concurrently myocardial torsion (p = 0.005). LV longitudinal strain correlated with mean T1 and ECV of different LV planes (p < 0.04; basal p < 0.01). Myocardial involvement in AGel amyloidosis is significant, but the effects are local, focusing on the basal plane of the LV.

Persistence of granular corneal dystrophy type-1 deposits in the predescemetic layer after big-bubble deep anterior lamellar keratoplasty / Persistência de depósitos da distrofia corneal granular tipo-1 na camada pre-Descemet após transplante lamelar anterior profundo

ABSTRACT We report intraoperative finding of Granular Corneal Dystrophy Type-1 (GCD1) deposits after stromal pneumodissection in deep anterior lamellar keratoplasty (DALK) in a 61-year-old female. Pneumodissection was performed from the center to the periphery of the cornea, characterizing a big bubble type 1 technique which dissects the deep stroma from the predescemetic layer. After stromal removal, persistence of whitish deposits inside the predescemetic layer was noted. During post-operative evaluation, anterior biomicroscopy and anterior segment optical coherence tomography showed granular opacities between the patient's Descemet's membrane and the donor cornea, suggesting possible involvement of the predescemetic layer in GCD1. This may require the surgeon's attention to choose between DALK keratoplasty or penetrating keratoplasty.

RESUMO Relatamos o achado intraoperatório de persistência dos depósitos de Distrofia Granular Tipo 1 (GCD1) após pneumodissecção estromal no transplante de córnea lamelar anterior profundo (DALK) em uma mulher de 61 anos. A pneumodissecção começou a partir do centro para a periferia da córnea, caracterizando uma big bubble tipo 1, que disseca o estroma profundo da camada pré-Descemet. Após a remoção do estroma, notamos a persistência de depósitos esbranquiçados no interior da camada pré-Descemet. Na avaliação pós-operatória, a biomicroscopia anterior e a tomografia de coerência óptica do segmento anterior evidenciaram opacidades granulares entre a membrana de Descemet e a córnea doadora, sugerindo o possível envolvimento da camada pré-Descemet na GCD1, o que pode chamar atenção do cirurgião para decidir entre manter o DALK ou converter para transplante penetrante.

Dermochondrocorneal dystrophy (Francois syndrome) in a Mexican patient and literature review.

Dermochondrocorneal Dystrophy (OMIM 221800) is a very rare disease first described by Francois in 1949. It is characterized by the appearance of skin nodules, osteochondral deformities, and corneal opacities during childhood. Only a few cases have been reported. There is uncertainty about the inheritance pattern and no gene or genes have been associated to this disease. We report a patient from Mexican mestizo origin with the classic manifestations of Dermochondrocorneal Dystrophy. We perform a multidisciplinary assessment in order to contribute to the knowledge of the clinical presentation of this uncommon condition. Among the few documented patients, this is the third patient of Mexican ancestry reported with this syndrome.

Role of ultrasound biomicroscopy in diagnosis and treatment of Terrien disease.

PURPOSE: Terrien disease is a rare form of peripheral corneal degeneration characterized by vascularization, opacification, lipid deposition, and corneal thinning. In this study, a high-frequency ultrasound biomicroscope (UBM) was used to detect the morphologic changes before and after surgery and to determine the stages of this disease. METHODS: Two patients with Terrien disease were examined by UBM, corneal topography, and a keratometer before and after surgery (full-thickness keratectomy). RESULTS: The absence of the Bowman layer and thinning of the Descemet layer in the ectatic part of the peripheral cornea were detected by using the UBM before surgery. Earlier, these signs could be detected only with optical and electron microscopy from histologic samples; now we can detect the signs of Terrien disease with noninvasive devices such as the UBM. CONCLUSIONS: The UBM is an effective device for following the progression of Terrien disease and determining the timing of these patients' surgeries.

Multivariate model of refractive shift in Descemet-stripping automated endothelial keratoplasty.

PURPOSE: To relate in situ graft shape in Descemet-stripping automated endothelial keratoplasty (DSAEK) to surgically induced refractive error. SETTING: Academic eye institute. METHODS: High frequency arc-scanning ultrasound was performed in 7 patients enrolled in a prospective study of microkeratome-assisted endothelial keratoplasty approved by the Investigative Review Board. A region of interest spanning the horizontal meridian was defined for analysis of epithelial, host, graft, and total corneal thicknesses. Graft thickness profiles were fit by quadratic polynomials where the 2nd-order coefficients represent the posterior corneal curvature contributed by the graft. The curvature coefficient and central graft thickness were analyzed as predictors of induced refractive error. RESULTS: At final follow-up (mean 5.9 months +/- 3.2 [SD]), 3 patients had a hyperopic shift (+2.50 diopters [D] each), 3 had insignificant (< 0.50 D) refractive shifts, and 1 had a myopic shift. In the group with hyperopic shift, a negative lens effect was predicted by positive curvature coefficients, representing grafts that were thinner centrally than peripherally (mean +22.72 microm/mm(2); range +4.95 to +45.17 microm/mm(2)). In the group with minimal refractive shift, coefficients were less positive (mean +7.28 microm/mm(2); range +2.01 to +13.82 microm/mm(2)). The patient with a myopic shift (-1.00 D) had the only negative curvature coefficient (-0.64 microm/mm(2)). In a 2-predictor model of refractive shift, central graft thickness and the curvature coefficient together accounted for 86% of the variance in the refractive response to DSAEK (P = .025). CONCLUSION: Nonuniform thickness profiles and variable central graft thicknesses both contribute to refractive shift after DSAEK.

Ultrasound biomicroscopic assessment of the cornea following excimer laser photokeratectomy.

Excimer laser photokeratectomy is used as a refractive tool and in the treatment of superficial corneal disease. Ultrasound biomicroscopy is a new method of ultrasound imaging developed in our laboratories that allows subsurface imaging of ocular structures at microscopic resolution. We used this imaging method to examine 12 patients following excimer laser keratoablation. Following treatment, the normal appearance of a highly reflective Bowman's membrane below the epithelial echo was absent in the treatment zone. Corneal thinning was also noted. Postoperative scarring in the treatment area could be imaged as highly reflective regions in the superficial stroma. In therapeutic cases, corneal opacities could be imaged pretreatment and their depth assessed. The degree of opacity removal could be analyzed post-treatment. Ultrasound biomicroscopy helped assess corneal changes secondary to excimer laser photokeratectomy.