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).

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.

Pedigree and clinical characteristics in a Chinese family with lattice corneal dystrophy / 中华实验眼科杂志

Background Lattice corneal dystrophy (LCD) is a progressive disease,whose clinical features are varied in different stages.It is rarely be reported that clinical findings of different stages and factors of promoting the occurrence and development on LCD in a family.Objective The aim of this study was to identify the characteristics of the pedigree and clinical features of different stages in a LCD family,and further to discuss its influence factors.Methods A cross-sectional study was performed in this study.A Chinese family with LCD was enrolled in Shenzhen Eye Hospital from 2015 to 2016.Questionnaires for disease-related history,visual acuity measurement,ocular anterior segment examination and color photography were carried out for all the members of the family.In addition,anterior segment OCT (AS-OCT),laser scanning confocal microscope and corneal endothelium microscope were used to observe the morphology of corneal stroma and changes of corneal endothelial cells.The pedigree chart was drawn by Cyrillic2.1 software and analyzed based on Mendel law.Results This family included 5 generations of 73 members.Patients with LCD were found in each generation with similar morbidity in different gender,which followed the law of autosomal dominant inheritance.Eleven patients were found in 49 members related with Ⅲ1 of this family with the prevalence rate of 22.45％ and onset age at 21-50 years old,and the course of disease was 3-34 years.All of the members had no systemic disease except for two patients (Ⅲ 1 and Ⅲ 5) with hypertension.In the early stage of LCD,some bifurcate striolae appeared in the patients' corneal stroma without symptoms for many years.In the progressive stage,there was corneal irritation symptom accompanying with vision's decrease in the eyes with LCD.The bifurcate striolae were increased,widened and interwoven into lattice lines that the boundaries gradually became fuzzy,then corneal macula was formed because of recurrent corneal infiltration,and eventually resulted in corneal leucoma.High reflection corresponding to the pathologic region was showed by laser scanning confocal microscope and AS-OCT.No significant differences were found in corneal endothelial cell density and the percentage of hexagonal cells between LCD patients and normal phenotype families (t =1.887,P=0.075;t=-0.719,P =0.481).Penetrating keratoplasty was performed in a patient with corneal opacity and serious corneal opacity occurred near the surgical incision one year after the surgery.One patient was diagnosed as LCD 2 years after laser assisted in-situ keratomileusis.One patient was a welder.Conclusions LCD is autosomal dominant inheritance in the family.The clinical manifestations of LCD in the early,progressive and late stage can be seen in the pedigree,which offers a reference for ophthahnologists.Corneal surgery and lesion may induce the onset or aggravation of LCD.

Contact lens fitting in a patient with Alport syndrome and posterior polymorphous corneal dystrophy: a case report / Adaptação de lentes de contato em paciente com síndrome de Alport e distrofia polimorfa posterior: relato de caso

ABSTRACT Alport Syndrome is a hereditary disease that is caused by a gene mutation and affects the production of collagen in basement membranes; this condition causes hemorrhagic nephritis associated with deafness and ocular changes. The X-linked form of this disease is the most common and mainly affects males. Typical ocular findings are dot-and-fleck retinopathy, anterior lenticonus, and posterior polymorphous corneal dystrophy. Some cases involving polymorphous corneal dystrophy and corneal ectasia have been previously described. Here we present a case report of a 33-year-old female with Alport syndrome, posterior polymorphous corneal dystrophy, and irregular astigmatism, whose visual acuity improved with a rigid gas permeable contact lens.

RESUMO A síndrome de Alport é descrita como uma doença hereditária que afeta um gene relacionado à produção de colágeno das membranas basais causando nefrite hemorrágica associada com surdez e alterações oculares. A forma ligada ao X é a mais comum e afeta principalmente homens. Os achados oculares típicos são retinopatia em ponto-mancha, lenticone anterior e distrofia polimorfa posterior. Alguns casos foram descritos de associação entre a distrofia polimorfa posterior e ectasia corneana. Nós apresentamos um caso de paciente do sexo feminino, 33 anos, diagnóstico de síndrome de Alport, distrofia polimorfa posterior e astigmatismo irregular, que apresenta melhora da acuidade visual após adaptação com lentes de contato rígidas gás permeáveis.

Unusual early recurrence of granular dystrophy after deep anterior lamellar keratoplasty: case report / Recorrência atípica e precoce de distrofia granular após transplante lamelar profundo: relato de caso

We report an atypical case of granular corneal dystrophy recurrence after deep anterior lamellar keratoplasty. We describe clinical features, histopathological analysis of the lamellar graft specimen and DNA analysis results. The slit-lamp examination and histopathological findings from the graft specimen indicated the confinement of the typical deposits of granular corneal dystrophy deep in the graft interface area. This localization is atypical, since in most cases recurrences in grafts tend to be initially superficial and situated in the epithelial or subepithelial corneal layers. Molecular genetic analysis revealed an already described mutation and a new intronic variant. The unusual localization and timing of this recurrence of granular corneal dystrophy after deep anterior lamellar keratoplasty suggests that corneal stromal keratocytes may play a role in the formation of granular deposits.

É relatado um caso atípico de recorrência de distrofia corneana granular após transplante lamelar anterior profundo. São descritas as características clínicas, a análise histopatológica do espécime do enxerto lamelar e os resultados de análises de DNA. O exame com lâmpada de fenda e a análise histopatológica do espécime do enxerto demonstram o confinamento dos depósitos típicos da distrofia corneana granular profundamente, na área de interface do enxerto. Esta localização é atípica, uma vez que, na maioria dos casos de recidivas em enxertos, estes tendem a ser no início localizados superficialmente, nas camadas epiteliais ou subepitelial da córnea. A análise genética molecular revelou uma mutação já descrita e uma nova variante intrónica. A localização incomum e o tempo de aparecimento da presente recorrência da distrofia corneana granular após transplante lamelar anterior profundo sugere que ceratócitos do estroma corneano possam desempenhar algum papel na formação dos depósitos granulares.

A Case of Korean Patient with Macular Corneal Dystrophy Associated with Novel Mutation in the CHST6 Gene

To report a novel mutation within the CHST6 gene, as well as describe light and electron microscopic features of a case of macular corneal dystrophy. A 59-year old woman with macular corneal dystrophy in both eyes who had decreased visual acuity underwent penetrating keratoplasty. Further studies including light and electron microscopy, as well as DNA analysis were performed. Light microscopy of the cornea revealed glycosaminoglycan deposits in the keratocytes and endothelial cells, as well as extracellularly within the stroma. All samples stained positively with alcian blue, colloidal iron, and periodic acid-Schiff. Electron microscopy showed keratocytes distended by membrane-bound intracytoplasmic vacuoles containing electron-dense fibrillogranular material. These vacuoles were present in the endothelial cells and between stromal lamellae. Some of the vacuoles contained dense osmophilic whorls. A novel homozygous mutation (c.613 C>T [p.Arg205Trp]) was identified within the whole coding region of CHST6. A novel CHST6 mutation was detected in a Korean macular corneal dystrophy patient.

Optical coherence tomography image in gelatinous drop-like corneal dystrophy: case report / Tomografia de coerência óptica na distrofia corneana gelatinosa em gotas: relato de caso

Gelatinous drop-like corneal dystrophy is a rare disorder with few cases described in the present literature. The following report will show how difficult it is to diagnose this disease in early stages. Modern image exams, such as optical coherence tomography helps to diagnose and can be crucial to establish the best treatment. We will present the histopathological changes and clinical features in this unusual dystrophy.

A distrofia corneana gelatinosa em gotas é uma desordem rara e pouco descrita em nossa literatura. O caso apresentado demonstra a dificuldade de realizar o diagnóstico nas fases mais iniciais da doença. O uso de modernos exames de imagem, como a tomografia de coerência óptica de segmento anterior, auxilia no diagnóstico e pode ser crucial para definir a melhor conduta terapêutica. Apresentaremos as alterações histopatológicas e as características clínicas desta incomum distrofia.

Danish type gelsolin-related amyloidosis in a Brazilian family: case reports / Amiloidose familiar relacionada ao gene gelsolin em uma família brasileira: relato de casos

Familial amyloidosis of the Finnish type (FAF) is an autosomal dominant form of systemic amyloidosis showing marked geographic clustering in Finland. The disease is caused by a point mutation, 654G-A, in the gelsolin gene. The Danish-subtype of FAF has been previously described in three families, the patients present clinical findings similar to FAF, and the mutation 654G-T in the gelsolin gene. Three members from two generations of the same family, with familial amyloidosis, were screened for mutations in the GSN gene. Genomic DNA was extracted from peripheral blood lymphocytes and the polymerase chain reaction (PCR) was carried out under standard conditions, using appropriate primers. Sequence analysis showed the presence of a G to T transition at nucleotide 654 of the gelsolin gene. This is the first report of gelsolin-related familial amyloidosis in a Brazilian family, and the result is particularly significant as this pedigree presents an unusual mutation, described previously in three families, with no known Finnish ancestors (Danish type).

Amiloidose familiar do tipo finlandes (FAF) é uma forma de amiloidose sistêmica autossômica dominante com grande concentração geográfica na Finlândia. É causada por uma mutação, 654G-A, no gene gelsolin. O subtipo dinamarquês da FAF foi previamente descrito em três famílias, com achados clínicos similares mas com a mutação 654G-T no gene gelsolin. Três membros de duas gerações da mesma família, com diagnóstico de amiloidose familiar, foram submetidos a screening de mutações no gene gelsolin. O DNA genômico foi extraído de linfócitos do sangue periférico, sendo realizada reação em cadeia de polimerase (PCR) em condições padronizadas. A análise do sequenciamento revelou uma transição de G para T no nucleotidio 654 do gene gelsolin. Este é o primeiro relato de uma amiloidose familiar relacionada ao gene gelsolin em uma família brasileira, que apresenta uma forma rara de mutação, descrita previamente em três famílias, sem ancestrais finlandeses (tipo dinamarquês).

Cytokeratin expression in corneal dystrophies / Expressão de citoqueratinas em distrofias corneanas

PURPOSE: To identify an immunohistochemical pattern of epithelial markers in granular, lattice and Avellino corneal dystrophies. METHODS: Twenty-two corneal buttons, diagnosed as lattice (17), Avellino (4) and granular (1) underwent immunohistochemical studies of cytokeratins (CKs) on pa- raffin-embedded sections (group I). Monoclonal antibodies for pan-CK (AE1/AE3) and CKs 3/12, 5/6, 8, 18 and 19 were used. Twenty-two normal corneas were used as the control (group II). RESULTS: Six lattice and 2 Avellino cases of group I stained positively with anti-CK 3/12 in corneal epithelium and areas of corneal stroma deposits. One of these cases of lattice was positive for anti-pan-CK (AE1/AE3) also in the epithelium and areas of corneal stroma deposits with a similar pattern. None of the controls (group II) revealed any staining in corneal stroma. All disease and control cases (groups I and II) revealed positive staining in corneal epithelium. CONCLUSION: AE1/AE3 and CK 3/12 anti-CK positive markers in the stromal deposits of lattice and Avellino dystrophies may suggest an epithelial genesis of the disease.

OBJETIVO: Investigar a expressão de citoqueratinas (CKs) em córneas com distrofias corneanas tipo granular, lattice e Avellino. MÉTODOS: Vinte e dois botões corneanos com diagnóstico anatomopatológico de distrofia estromal tipo lattice (17), Avellino (4) e granular (1) foram submetidos à avaliação imunohistoquímica nos tecidos inclusos em parafina (grupo I). Anticorpos monoclonais para pan-CK (AE1/AE3) e CKs de números 3/12, 5/6, 8, 18 e 19 foram utilizados. Vinte e dois botões corneanos normais foram usados como controle (grupo II). RESULTADOS: Oito casos do grupo I (seis lattice e dois Avellino) apresentaram reações imuno-histoquímicas positivas com anti-CK 3/12, tanto no epitélio como nos depósitos estromais e um destes casos (lattice) também se mostrou positivo para anti-pan-CK (AE1/AE3) com o mesmo padrão de reação. Nenhum caso do grupo II mostrou reação imuno-histoquímica positiva no estroma corneano. Na avaliação imuno-histoquímica dos grupos I e II, o epitélio apresentou uma reação positiva com o anticorpo anti-pan-CK (AE1/AE3) e com o anti-CK 3/12. CONCLUSÃO: O fato da pan-CK e CK 3/12 apresentarem uma reação positiva nos depósitos das distrofias tipo lattice e Avellino sugere uma origem epitelial desses depósitos corneanos.

Genome-wide scan of granular corneal dystrophy, type II: confirmation of chromosome 5q31 and identification of new co-segregated loci on chromosome 3q26.3

Granular corneal dystrophy, type II (CGD2; Avellino corneal dystrophy) is the most common corneal dystrophy among Koreans, but its pathophysiology is still poorly understood. Many reports showed that even though the causative mutation is the same TGFBI R124H mutation, there are severe and mild phenotypes of the corneal dystrophy. We also observed the phenotype differences in our samples. For this reason, we focused our effort on the identification of unknown genetic factor related to phenotype variation. A total 551 individuals from 59 families were genotyped with SNP chip and used in genome-wide linkage analysis. From single-point linkage analyses, we confirmed the known 5q31 region for TGFBI gene, and selected novel nine candidate loci for CGD2. In simulation analysis, the only 3q26.3 region including neuroligin 1 gene (NLGN1) was supported by empirical statistic significance. To investigate the effect of genetic heterogeneity in linkage analysis, we classified CGD2 families into two subgroups. Although we could not find a significant evidence for correlation between the 3q26.3 region and CGD2 phenotypes, this first genome-wide analysis with CGD2 families in Korea has a very important value for offering insights in genetics of CGD2. In addition, the co-segregating loci with CGD2 including 3q26.3 would be a good target for further study to understand the pathophysiology of CGD2.

Surpresa refrativa pós-facoemulsificação em distrofia corneana posterior amorfa / Post-phacoemulsification refractive surprise in a posterior amorphous corneal dystrophy patient

Relato de um caso de surpresa refracional pós-operatória não pretendida em paciente portador de distrofia corneana posterior amorfa submetida à facoemulsificação. A provável causa do erro, bem como a conduta tomada a partir do reconhecimento da mesma, são discutidas neste relato.

One case of post-phacoemulsification refractive surprise in a posterior amorphous corneal dystrophy patient is reported herein. Its likely causative factor, as well as our approach once it was recognized are discussed in this report.

Contribuição da tomografia de coerência óptica de 820 nm na distrofia granular corneana: relato de caso / Contribution of 820 nm optical coherence tomography in granular corneal dystrophy: case report

O objetivo deste trabalho é correlacionar os dados clínicos de um caso de distrofia granular com o exame de tomografia de coerência óptica (OCT) de 820 nm de modo a determinar o nível intra-estromal dos depósitos corneanos. É relatado um caso de distrofia granular em paciente de 38 anos do sexo masculino. Foi realizado exame oftalmológico completo e OCT para documentação do caso. O aparelho utilizado foi o Stratus OCT III, originalmente desenvolvido para avaliação do segmento posterior. A acuidade visual corrigida foi de 20/50 em ambos os olhos. À biomicroscopia, foram observadas opacidades em "floco de neve" em diferentes níveis do estroma corneano bilateral e de forma simétrica. A avaliação pelo OCT revelou múltiplos pontos hiperreflectivos nas camadas superficiais e profundas do estroma. Foi possível acessar a anatomia morfológica da córnea através de cortes seriados realizados pelo Stratus OCT III e confirmar a profundidade dos depósitos corneanos.

The purpose of this case report is to correlate clinical features of granular dystrophy using 820 nm optical coherence tomography (OCT) in order to determine the depth of intrastromal corneal deposits. We report a case of a 38-year-old man with granular dystrophy. After complete ophthalmologic examination the patient was submitted to OCT, using the Stratus OCT III, originally proposed for studying disorders of the posterior segment. Best-corrected visual acuity was 20/50 in both eyes. Biomicroscopy revealed bilateral "snowflake"opacities in different levels of the stromal layer. OCT disclosed multiple hiperreflective dots in anterior and deeper stromal layers. It was possible to assess the morphology of the cornea and to determine the depth of the corneal deposits with serial cross-sectional OCT scans using the Stratus OCT III.

Diamond burr superficial keratectomy in the treatment of visually-significant anterior corneal lesions / Ceratectomia superficial com broca de diamante no tratamento de lesões anteriores da córnea

PURPOSE: To evaluate the efficacy and safety of diamond burr superficial keratectomy in the treatment of visually-significant anterior corneal lesions. METHODS: A retrospective review of 23 eyes (23 patients). Pre- and postoperative visual acuities and refractions, slit-lamp biomicroscopic findings, and the incidence of recurrence of disease after keratectomy were studied. RESULTS: Nineteen eyes had map-dot-fingerprint basement membrane dystrophy and 4 had Salzmann's nodular degeneration. All patients presented with decreased vision, as well as varying degrees of glare, halos, and monocular diplopia. Postoperative follow-up ranged from 3 to 39 months (mean 10.6 months), and no recurrence of the original disease occurred within this period. This procedure improved the best-corrected visual acuity from 20/36 (LogMar 0.250) to 20/24 (LogMar 0.076) by LogMar statistical evaluation (p<0.001) and caused a statistically non-significant (p=0.232) myopic change in the mean refractive spherical equivalent (-0.36 diopter ± SD 2.28 preoperatively to -0.71 ± 2.26 postoperatively). Glare and monocular diplopia were subjectively reduced or eliminated in all patients. One patient had mild anterior stromal haze which decreased the bestcorrected visual acuity from 20/25 to 20/30. CONCLUSION: Diamond burr superficial keratectomy appears to be an effective and safe method of removing visually-significant anterior corneal opacities.

OBJETIVO: Avaliar a eficácia e segurança da ceratectomia superficial com broca de diamante no tratamento das lesões anteriores da córnea. MÉTODOS: Foi realizado estudo retrospectivo de 23 olhos de 23 pacientes. Foram avaliados acuidade visual e refração pré e pós-operatório, biomicroscopia e incidência de recorrência da doença após ceratectomia. RESULTADOS: Dos 23 olhos avaliados, 19 olhos apresentavam distrofia da membrana basal (map-dot-fingerprint) e 4 degeneração nodular de Salzmann. Todos os pacientes apresentavam diminuição da acuidade visual, assim como graus variados de ofuscamento, halos e diplopia monocular. O seguimento pós-operatório variou entre 3 e 39 meses (média de 10,6 meses) e não houve recorrência da doença original nesse período. O procedimento melhorou a acuidade visual com melhor correção de 20/36 (LogMar 0,250) para 20/24 (LogMar 0,076) com p<0,001. Em relação as mudanças refracionais não houve significância (p=0,232) sendo o equivalente esférico pré-operatório de - 0,36 ± 2,28DE e pós-operatório de -0,71 ± 2,26DE. As queixas de ofuscamento e diplopia monocular diminuíram ou foram eliminadas em todos os pacientes. Apenas 1 paciente apresentou nubécula no estroma anterior com diminuição da acuidade visual com melhor correção de 20/25 para 20/30. CONCLUSÃO: Ceratectomia superficial com broca de diamante parece ser método efetivo e seguro para remover opacidades anteriores de córnea.

Distrofia corneana policromática posterior / Polychromatic posterior corneal dystrophy

Os autores descrevem quatro raros casos de distrofia corneana policromática posterior, ainda não descrito na literatura nacional. Observam-se opacidades puntiformes, policromáticas, de tamanho uniforme, localização estromal profunda, distribuídas de limbo a limbo e que não interferem na acuidade visual. É apresentada uma revisão dos casos de distrofia pré-Descemet existentes na literatura.

The authors describe four rare cases of polychromatic posterior corneal dystrophy, not describe in national literature. The opacities are deep in the stroma, dotlike, polychromatic, uniform in size, distributed from limbus to limbus, leading no reduction in visual acuity. It is also presented a bibliographic review of pre-Descemet's dystrophy.

Distrofia em forma-de-borboleta: relato de caso / Butterfly-shaped pattern dystrophy: case report

Os autores apresentam um caso de distrofia macular em forma-de-borboleta, diagnosticado em paciente do sexo masculino, apresentando concomitante atrofia do epitélio pigmentado da retina e perda visual central em um dos olhos. Os achados relatados contrariam conceitos inicialmente disponíveis de curso sempre benigno da doença. A lesão característica e bem delimitada no pólo posterior e a angiofluoresceinografia, permitiram estabelecer o diagnóstico. Descreve-se ainda, pela primeira vez, os achados da distrofia em forma-de-borboleta à tomografia de coerência óptica.

The authors present a case of butterfly-shaped pattern dystrophy diagnosed in a male patient, with retinal pigmented epithelium atrophy and central visual acuity decrease in one of the eyes. The evolution of this case was not benign as described in previous reports. A well-defined lesion located in the posterior pole of both eyes associated with fluorescein angiography allowed the diagnosis of this pattern dystrophy. Optical coherence tomography was performed, showing the aspects of the pathology, for the first time.

Distrofia corneana amorfa posterior: relato de caso / Posterior amorphous corneal dystrophy: case report

O objetivo deste trabalho é alertar o oftalmologista da possibilidade de se deparar com casos raros de distrofias corneanas. Neste caso correlacionamos os achados clínicos da distrofia amorfa posterior com refração, topografia e biomicroscopia ultra-sônica.

The purpose of this paper is to warn the ophthalmologist about the possibility of facing rare cases of corneal dystrophies. Clinical findings of a case of posterior amorphous dystrophy were correlated with refraction, topography, and ultrasound biomicroscopy.