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.

Síndrome de Rothmund / Rothmund syndrome

RESUMO A síndrome de Rothmund (RTS) é uma rara genodermatose, de herança autossômica recessiva. Sua incidência é desconhecida, com aproximadamente 300 casos descritos na literatura. A síndrome é determinada por eritema facial (poiquilodermia), seu marco diagnóstico, além de alterações esqueléticas, alopecia, catarata juvenil e predisposição a osteossarcoma. Neste relato, descrevemos uma paciente com esta síndrome, que foi referida ao serviço de oftalmologia por baixa visão e hiperemia ocular.

ABSTRACT Rothmund-Thomson syndrome (RTS) is a rare autosomal recessive genodermatosis. While its incidence is unknown, approximately 300 cases have been reported in the literature. The syndrome typically presents with a characteristic facial rash (poikiloderma), its diagnostic hallmark, and heterogeneous clinical features including congenital skeletal abnormalities, sparse hair distribution, juvenile cataracts, and a predisposition to osteosarcoma. This is a report describing a patient diagnosed with RTS referred to us because of low vision and red eyes.

Relationship between corneal thickness and postmortem interval in rabbit / 法医学杂志

OBJECTIVE@#To explore the relationship between corneal thickness and postmortem interval (PMI) in rabbit.@*METHODS@#The rabbit model was established by air embolism. The rabbit cornea was sampled at 6-hour-interval from 0 to 72 h postmortem. After routine HE staining, the whole cornea image was collected by the optical microscope. Three markers were observed including corneal epithelial thickness (x1), corneal stromal thickness (x2) and whole corneal thickness (x3) using Motic Images Plus 2.0 image analysis software and the data were statistically analyzed to establish the regression function with PMI (y).@*RESULTS@#Within 72 h postmortem, rabbit corneal stromal thickness and whole corneal thickness increased at 12h postmortem and reached the peak at 54h postmortem. The two markers showed positive correlation with PMI. The regression functions of the two markers were y = -0.070 2 x2(2) +11.398 x2 + 1634 (R2 = 0.712 2, P < 0.05) and y = -0.074 9 x3(2) +12.036 x3 + 1819.4 (R = 0.675 0, P < 0.05), respectively.@*CONCLUSION@#The two markers of corneal stromal thickness and the whole corneal thickness showed the strong linear correlation with PMI. The correlation of the corneal stromal thickness is better than the whole corneal thickness. The two markers can be used to estimate PMI.

ProTon tonometer determination of intraocular pressure in patients with scarred corneas.

PURPOSE: To evaluate the measure of intraocular pressure (IOP) in patients with scarred corneas obtained from the affected and non-affected areas. MATERIALS AND METHODS: Eighteen patients with small maculo-leucomatous corneal opacity following microbial keratitis were prospectively included in the study. Goldmann applanation tonometry was done first on the non-affected corneal surface. ProTon tonometry (PT) was then carried out on the same eye, to obtain IOP measurements from the non-affected (PT1) and the affected area (PT2) of the cornea. The IOP measurements were compared using a two-tail paired t test. RESULTS: The mean of IOP measurements of PT 2 and PT1 was 22 mm of Hg (SD +/- 5.2) and 14.8 mm of Hg (SD +/- 5.4), respectively. The higher reading of PT2 was statistically significant ( P < 0.001). The mean Goldmann applanation tonometry was 14.6 mm of Hg (SD 5.4) and it did not differ significantly ( P = 0.86) from the PT1 readings of 14.8 mm of Hg (SD 5.4). CONCLUSION: In patients with maculo-leucomatous corneal opacity, determination of IOP by ProTon tonometer varies from the affected to the non-affected area. The ProTon tonometer overestimates the level of IOP when it is applied to a leucomatous corneal opacity.

Excimer laser phototherapeutic keratectomy: indications, results and its role in the Indian scenario.

PURPOSE: To report indications, technique, and results of excimer phototherapeutic keratectomy (PTK), and describe possible reasons for the small numbers of such procedures performed in a referral institute in India. METHODS: Retrospective review of case records of 10 patients (11 eyes) who underwent excimer PTK at our institute between February 1994 and September 1997. RESULTS: Corneal scars were the most common indication for treatment. Best-corrected visual acuity (BCVA) improved in 6 eyes (mean: 2 lines of Snellen acuity). All eyes had BCVA > or = 6/12 after treatment. None of the patients experienced loss of BCVA after treatment. Unaided visual acuity improved in 3 eyes and decreased in 2 eyes. Change in spherical equivalent refraction > or = 1 diopter occurred in 77.8% of eyes after treatment. Treating central corneal scars resulted in a significant hyperopic shift in refraction. CONCLUSIONS: Excimer PTK is a safe and effective procedure for the treatment of superficial corneal opacities. Post-treatment ametropia may require further correction with optical aids. Inappropriate referrals, deep corneal scars, and cost of the procedure could have contributed to the small numbers of PTK performed at our institute. Improved understanding of procedural strengths and limitations could lead to increased use of this procedure, with satisfying results in selected patients.

A tectonic keratoprosthesis using expanded polytetrafluoroethylene as a supporting skirt in humans

A tectonic keratoplasty was performed with a keratoprosthesis using expanded polytetrafluoroethylene as a supporting skirt, on the left eye of a 23-year-old woman who needed an emergency corneal transplantation due to corneal perforation. The keratoprosthesis implanted, consisted of a supporting skirt which was made of expanded polytetrafluoroethylene (PTFE), and an optic portion which was made of polymethylmethacrylate (PMMA). The optic portion and the supporting skirt were attached by cyanoacrylate tissue adhesive (Histoacryl(R)). Two months post-operatively, the keratoprosthesis was extruded, leaving an opacified, vascularized cornea. A penetrating keratoplasty was performed 1 month later. The excised cornea was composed of granulation tissue. To our knowledge, this is the first case of tectonic keratoprosthesis using expanded PTFE as a supporting skirt in humans.