Macular dystrophies associated with Stargardt-like phenotypes / Distrofias maculares associadas a fenótipos Stargardt-like

ABSTRACT Purpose: Stargardt-like phenotype has been described as associated with pathogenic variants besides the ABCA4 gene. This study aimed to describe four cases with retinal appearance of Stargardt disease phenotypes and unexpected molecular findings. Methods: This report reviewed medical records of four patients with macular dystrophy and clinical features of Stargardt disease. Ophthalmic examination, fundus imaging, and next-generation sequencing were performed to evaluate pathogenic variants related to the phenotypes. Results: Patients presented macular atrophy and pigmentary changes suggesting Stargardt disease. The phenotypes of the two patients were associated with autosomal dominant inheritance pattern genes (RIMS1 and CRX) and in the other two patients were associated with recessive dominant inheritance pattern genes (CRB1 and RDH12) with variants predicted to be pathogenic. Conclusion: Macular dystrophies may have phenotypic similarities to Stargardt-like phenotype associated with other genes besides the classic ones.

RESUMO Objetivo: Fenótipos Stargardt-like já foram asso-ciados a variantes patogênicas no gene ABCA4. O propósito desse estudo é descrever quatro pacientes com achados retinianos semelhantes a doença de Stargardt com resultados moleculares diferentes do esperado. Métodos: Esse relato fez a revisão de prontuários médicos de quatro pacientes com distrofia macular e achados clínicos sugestivos de doença de Stargardt. Foram realizados avaliação oftalmológica, exames de imagens e testes usando next generation sequencing para avaliar variantes patogênicas associadas aos fenótipos dos pacientes. Resultados: Os pacientes apresentavam atrofia macular e alterações pigmentares sugerindo achados clínicos de doença de Stargardt. Dois pacientes foram associados a genes com herança autossômica dominante (RIMS1 e CRX) e dois pacientes foram associados a genes com herança autossômica recessiva (CRB1 e RDH12) com variantes preditoras de serem patogênicas. Conclusão: Distrofias maculares podem ter similaridades fenotípicas com fenótipo de Stargardt-like associados a outros genes além dos classicamente já descritos.

Principais achados em um paciente com diagnóstico de Amaurose Congênita de Leber / Main findings in a patient diagnosed with Leber's Congenital Amaurosis

RESUMO A amaurose congênita de Leber, também conhecida como neuropatia óptica hereditária de Leber, é caracterizada por uma das formas mais graves de distrofia da retina com início na infância. Os achados clássicos são deficiência visual grave e precoce, nistagmo e eletrorretinograma (ERG) anormal ou não detectável. O objetivo deste estudo é relatar um caso de um paciente com amaurose congênita de Leber com comprometimento visual desde os 6 meses de vida e acentuado declínio visual a partir dos 15 anos de idade. A realização de exames específicos para confirmar o diagnóstico é importante para o manejo e o seguimento adequado do paciente e para proporcionar melhor qualidade de vida para o mesmo.

ABSTRACT Leber Congenital Amaurosis, also known as Leber hereditary optic neuropathy, is characterized by one of the most severe forms of childhood-onset retinal dystrophy. Classic findings are severe and early visual impairment, nystagmus, and abnormal or undetectable electroretinogram. The aim of this study is to report a case of a patient with Leber Congenital Amaurosis with visual impairment since the first six months of age and marked visual decline from fifteen years of age. Performing specific tests to confirm the diagnosis is important for the proper management and follow-up of the patient and to provide them with a better quality of life.

Long-term follow-up of a case of choroidal neovascularization secondary to reticular pigmentary retinal dystrophy / Seguimento de longo-prazo de um caso de neovascularização de coroide secundária à distrofia reticular pigmentar da retina

ABSTRACT Reticular pigmentary retinal dystrophy, also known as Sjögren's reticular dystrophy, is a rare condition characterized by macular lesions with a reticular pattern, which are best seen on fluorescein angiogram. Choroidal neovascularization secondary to this type of dystrophy is even less common. This report describes a case of reticular pigmentary retinal dystrophy with vision loss due to neovascular membrane, which responded well to treatment with anti-vascular endothelial growth factor.

RESUMO A distrofia reticular pigmentar da retina, também conhecida como distrofia reticular de Sjögren, é uma doença rara, caracterizada por lesões maculares com um padrão reticular, que são mais bem visualizadas na angiografia com fluoresceína. A neovascularização de coroide secundária a este tipo de distrofia é ainda menos comum. Este relato descreve um caso de distrofia reticular pigmentar da retina, com perda de visão devido à membrana neovascular, que respondeu bem ao tratamento com fator de crescimento endotelial antivascular.

Application of antisense oligonucleotide in the treatment of inherited retinal dystrophy / 中华实验眼科杂志

Gene therapy is expected to restore the function of genetic material fundamentally and it has become a new trend in inherited retinal dystrophy treatment.Antisense oligonucleotide (AON) is a kind of small molecule nucleic acid drug, which can specifically bind to messenger RNA through the base pairing principle, thus interfering or modifying gene expression at the transcription and translation level.Possessing the advantages of high specificity and efficiency, wide targeting range, low immunogenicity and limited adverse effect, AON has become a novel remedy for inherited retinal dystrophy.Currently, three different AON drugs have already been used in clinical trials for inherited retinal dystrophy.In this review, the chemical structure modification, properties and mechanism of AON, and the therapeutic strategies of AON in different inherited retinal dystrophy diseases in recent years were summarized.

Definición diagnóstica en una familia con malattia leventinese en Colombia / Diagnostic definition of malattia leventinese in a family from Colombia

Resumen La malattia leventinese es una enfermedad hereditaria autosómica dominante, cuyos síntomas se inician entre la segunda y la cuarta décadas de la vida. Se caracteriza por la aparición de drusas localizadas entre el epitelio pigmentario de la retina y la membrana de Bruch; suele reducir la visión drásticamente y progresar a ceguera. La variante patogénica p.Arg345Trp en el gen EFEMP1 se ha asociado con esta enfermedad. Se presenta aquí la caracterización clínica y molecular de una familia con malattia leventinese mediante un manejo integral que involucró a oftalmólogos, pediatras y genetistas, lo que es de gran importancia, ya que el fenotipo de esta enfermedad suele confundirse con la degeneración macular. A todos los individuos de la familia se les hizo la evaluación oftalmológica con imágenes diagnósticas de retina y extracción de ADN a partir de una muestra de sangre periférica. Todos los exones del gen EFEMP1 se amplificaron y secuenciaron. La variante patogénica p.Arg345Trp se identificó en los individuos afectados. Este es el primer reporte de malattia leventinese en una familia con la variante patogénica p.Arg345Trp en Colombia. El diagnóstico molecular de las distrofias retinianas es fundamental para diferenciar este tipo de enfermedades.

Abstract The malattia leventinese is an autosomal dominant inherited disease whose symptoms appear between the second and fourth decades of life. It is characterized by the appearance of drusen located between the retinal pigment epithelium and the Bruch membrane. It is usually associated with low vision and may progress to blindness. The pathogenic variant p.Arg345Trp in the EFEMP1 gene has been associated with this disease. We characterized clinically and molecularly a family with malattia leventinese using a comprehensive approach that involved ophthalmologists, pediatricians, and geneticists. This approach is of great importance since the phenotype of this disease is often confused with macular degeneration. All family members underwent ophthalmological evaluation and DNA extraction from a peripheral blood sample. All exons of the EFEMP1 gene were amplified and sequenced. The pathogenic variant p.Arg345Trp was identified in affected individuals in this family. This is the first report of malattia leventinese in a family with the p.Arg345Trp pathogenic variant in Colombia. The molecular diagnosis of retinal dystrophies is essential to differentiate this type of pathology.

Unusual clinical phenotype of Stargardt disease / Fenótipo clínico incomum da doença de Stargardt

ABSTRACT Mutations in the ABCA4 gene are a common cause of Stargardt disease; however, other retinal phenotypes have also been associated with mutations in this gene. We describe an observational case report of an unusual clinical phenotype of Stargardt disease. The ophthalmological examination included best corrected visual acuity, color and autofluorescence photography, fluorescein angiography, optical coherence tomography, and electrophysiology tests. Targeted next-generation sequencing of 99 genes associated with inherited retinal dystrophies was performed in the index patient. A 48-year-old woman presented with a best corrected visual acuity of 20/25 and 20/20. Fundoscopy revealed perifoveal yellow flecked-like lesions. Fluorescein angiography and fundus autofluorescence findings were consistent with pattern dystrophy. Pattern electroretinogram demonstrated bilateral decrease of p50 values. Genetic testing identified two heterozygous missense mutations, c.428C>T, p.(Pro143Leu) and c.3113C>T, p.(Ala.1038Val), in the ABCA4 gene. Based on our results, we believe that these particular mutations in the ABCA4 gene could be associated with a specific disease phenotype characterized by funduscopic appearance similar to pattern dystrophy. A detailed characterization of the retinal phenotype in patients carrying specific mutations in ABCA4 is crucial to understand disease expression and ensure optimal clinical care for patients with inherited retinal dystrophies.

RESUMO Mutações no gene ABCA4 são causa comum da doença de Stargardt, mas outros fenótipos da retina também foram associados a mutações nesse gene. Apresentamos um relato de caso observacional de um fenótipo clínico incomum da doença de Stargardt. O exame oftalmológico incluiu a acuidade visual com melhor correção, fotografia em cores e com autofluorescência, angiofluoresceinografia, tomografia de coerência óptica e testes de eletrofisiologia. Na paciente em questão, realizou-se o sequenciamento de próxima geração de 99 genes associados a distrofias retinais hereditárias. Tratava-se de uma mulher de 48 anos com melhor acuidade visual corrigida de 20/25 e 20/20. A fundoscopia revelou lesões puntiformes amarelas perifoveais. Os resultados da angiofluoresceinografia e da autofluorescência do fundo de olho foram consistentes com distrofia em padrão. A eletrorretinografia por padrões mostrou diminuição bilateral dos valores de p50. Os testes genéticos revelaram duas mutações missense heterozigóticas, c.428C>T, p. (Pro143Leu) e c.3113C>T, p. (Ala.1038Val), no gene ABCA4. Nossos resultados nos fazem pensar que essas mutações específicas em ABCA4 talvez possam estar associadas a um fenótipo específico da doença, caracterizado por uma aparência fundoscópica semelhante à da distrofia em padrão. Uma caracterização detalhada do fenótipo da retina em pacientes portadores de mutações específicas em ABCA4 é crucial para compreender a expressão da doença e para garantir o tratamento clínico ideal para pacientes com distrofias retinais hereditárias.

Comparison study of whole exome sequencing and targeted panel sequencing in molecular diagnosis of inherited retinal dystrophies / 北京大学学报(医学版)

OBJECTIVE@#To evaluate and compare whole exome sequencing (WES) and targeted panel sequencing in the clinical molecular diagnosis of the Chinese families affected with inherited retinal dystrophies (IRDs).@*METHODS@#The clinical information of 182 probands affected with IRDs was collected, including their family history and the ophthalmic examination results. Blood samples of all probands and their relatives were collected and genomic DNA was extracted by standard protocols. The first 91 cases were subjected to the WES and the other 91 cases were subjected to a specific hereditary eye disease enrichment panel (HEDEP) designed by us. All likely pathogenic and pathogenic variants in the candidate genes were determined by Sanger sequencing and co-segregation analyses were performed in available family members. Copy number variations (CNVs) detected by HEDEP were further validated by multiplex ligation-dependent probe amplification (MLPA). As PRGR ORF15 was difficult to capture by next generation sequencing (NGS), all the samples were subjected to Sanger sequencing for this region. All sequence changes identified by NGS were classified according to the American College of Medical Gene-tics and Genomics and the Association for Molecular Pathology (ACMG/AMP) variant interpretation guidelines. In this study, only variants identified as pathogenic or likely pathogenic were included, while those variants of uncertain significance, likely benign or benign were not included.@*RESULTS@#In 91 cases with WES, pathogenic or likely pathogenic variants were determined in 30 cases, obtaining a detection rate of 33.00% (30/91); While in 91 cases with HEDEP sequencing, pathogenic or likely pathogenic variants were determined in 51 cases, achieving the diagnostic rate of 56.04% (51/91), and totally, the diagnostic rate was 44.51%. HEDEP had better sequencing coverage and read depth than WES, therefore HEDEP had higher detection rate. In addition, HEDEP could detect CNVs. In this study, we detected disease-causing variants in 29 distinct IRD-associated genes, USH2A, ABCA4 and RPGR were the three most common disease-causing genes, and the frequency of these genes in Chinese IRDs population was 11.54% (21/182), 6.59% (12/182) and 3.85% (7/182), respectively. We found 43 novel variants and 6 cases carried variants in RPGR ORF15.@*CONCLUSION@#NGS in conjunction with Sanger sequencing offers a reliable and effective approach for the genetic diagnosis of IRDs, and after evaluating the pros and cons of the two sequencing methods, we conclude that HEDEP should be used as a first-tier test for IRDs patients, WES can be used as a supplementary molecular diagnostic method due to its merit of detecting novel IRD-associated genes if HEDEP or other methods could not detect disease-causing va-riants in reported genes. In addition, our results enriched the mutational spectra of IRDs genes, and our methods paves the way of genetic counselling, family planning and up-coming gene-based therapies for these families.

A pedigree of Sorsby fundus dystrophy with mutation in TIMP3 gene / 中华眼底病杂志

Objective To observe the clinical manifestation and gene mutation of a pedigree with Sorsby fundus dystrophy (SFD).Methods Ten members in 3 generations of a pedigree with SFD were included in this study.Four patients were observed in the pedigree,including 2 females and 2 males.All 10 members underwent comprehensive ophthalmic examinations,including best-corrected visual acuity,intraocular pressure,slit-lamp biomicroscopy,indirect ophthalmoscopy,fundus color photography and spectral domain optical coherence tomography.Genomic DNA was extracted from peripheral venous blood which was collected from all the members.Relevant exons of ocular diseases were detected by the next generation sequencing method from the proband.The other members underwent Sanger verification.Results Among the four patients,fading eyesight was appeared at their 44,46,47 and 40 year-old respectively.The two male patients had bilateral morbidity,and the two female patients had monocular symptoms.DNA sequencing results showed that the proband,other 3 patients and 2 members from the Ⅲ generation had heterozygous mutation of TIMP3 gene in exon 5.The amino acid encoded by TIMP3 gene No.204 codon changed from serine to cysteine (TIMP3:NM_000362:Exon5:c.A610T/p.S204C).Coclusions The invasion time of all the patients in this pedigree is after their 40 year-old.Heterozygous mutation at c.610A＞T (p.S204C) in TIMP3 gene is the causative gene of SFD in this pedigree.

Retinal function in patients with the neuronal ceroid lipofuscinosis phenotype / Estudo da função retiniana em pacientes com o fenótipo da lipofuscinose ceróide neuronal

ABSTRACT Purpose: To analyze the clinical features, visual acuity, and full-field electroretinogram (ERG) findings of 15 patients with the neuronal ceroid lipofuscinosis (NCL) phenotype and to establish the role of ERG testing in NCL diagnosis. Methods: The medical records of five patients with infantile NCL, five with Jansky-Bielschowsky disease, and five with juvenile NCL who underwent full-field ERG testing were retrospectively analyzed. Results: Progressive vision loss was the initial symptom in 66.7% of patients and was isolated or associated with ataxia, epilepsy, and neurodevelopmental involution. Epilepsy was present in 93.3% of patients, of whom 86.6% presented with neurodevelopmental involution. Fundus findings ranged from normal to pigmentary/atrophic abnormalities. Cone-rod, rod-cone, and both types of dysfunction were observed in six, one, and eight patients, respectively. Conclusion: In our study, all patients with the NCL phenotype had abnormal ERG findings, and the majority exhibited both cone-rod and rod-cone dysfunction. We conclude that ERG is a valuable tool for the characterization of visual dysfunction in patients with the NCL phenotype and is useful for diagnosis.

RESUMO Objetivo: Analisar o quadro clínico, a acuidade visual e o eletrorretinograma de campo total (ERG) de 15 pacientes com o fenótipo da lipofuscinose ceróide neuronal (LCN), estabelecendo o papel do eletrorretinograma no seu diagnóstico. Métodos: Eletrorretinograma foi realizado em 5 pacientes com lipofuscinose ceróide neuronal infantil, 5 com doença de Jansky-Bielschowsky e 5 com lipofuscinose ceróide neuronal juvenil sendo feita uma análise retrospectiva dos registros médicos. Resultados: A perda progressiva da acuidade visual foi o sintoma inicial em 66,7%; isolada ou associada à ataxia, epilepsia e involução do desenvolvimento neuropsico motor. Epilepsia foi o sintoma inicial em 93,3% e 86,6% apresentaram involução do desenvolvimento neuropsicomotor. Achados fundoscópicos variaram de normal a alterações pigmentares/atróficas. Disfunção de cone-bastonete foi constatada em 6 pacientes, bastonete-cone em 1 e em 8 pacientes observou-se disfunção proporcional de ambos os sistemas. Conclusão: O eletrorretinograma foi alterado em todos os pacientes, e o achado mais frequente foi o comprometimento de cones e bastonetes. O eletrorretinograma constitui, portanto, uma ferramenta valiosa para caracterizar a disfunção visual em pacientes com o fenótipo da lipofuscinose ceróide neuronal, contribuindo para seu diagnóstico.

Is there a relationship between outer retinal destruction and choroidal changes in cone dystrophy? / Existe uma relação entre a destruição da retina externa e alterações da coroide em distrofia de cones?

ABSTRACT Purpose: The aim of the present study was to use enhanced depth imaging optical coherence tomography (EDI-OCT) to investigate choroidal changes in patients with cone dystrophy (CD) and to correlate these findings with clinical and electroretinography (ERG) findings. Methods: This case-control study included 40 eyes of 20 patients with CD and 40 eyes of 40 age- and refraction-matched healthy individuals. Choroidal thickness (CT) measurements were obtained under the foveal center and at 500 and 1,500 μm from the nasal and temporal regions to the center of the fovea, respectively. EDI-OCT and ERG data were analyzed, and the correlations of CT with the best-corrected visual acuity (BCVA) and the central foveal thickness (CFT) were evaluated. Results: The mean subfoveal CTs in the CD and control groups were 240.70 ± 70.78 and 356.18 ± 48.55 μm, respectively. The subfoveal CT was significantly thinner in patients with CD than in the controls (p<0.001). The patients with CD also had significantly thinner choroids than the controls at each measurement location relative to the fovea (p<0.001). The subfoveal CT in the CD group correlated with CFT (p=0.012), but no significant correlation was found between the subfoveal CT and BCVA or photopic ERG responses. Conclusions: The present study demonstrated a significant thinning of the choroid in patients with CD. EDI-OCT is a useful technique for describing the choroidal changes occurring in CD. Future studies investigating the association between choroidal changes and outer retinal destruction or the disease stage may provide a better understanding of the pathophysiology of CD.

RESUMO Objetivo: O objetivo deste estudo foi a utilização de imagens de tomografia de coerência óptica com profundidade aprimorada (EDI-OCT) para investigar alterações da coroide em pacientes com distrofia de cones (CD) e correlacionar esses achados com os achados clínicos e de eletrorretinografia (ERG). Métodos: Este estudo de caso-controle incluiu 40 olhos de 20 pacientes com CD e 40 olhos de 40 indivíduos saudáveis com idades e refração pareados. As medidas da espessura da coroide (CT) foram obtidas sob o centro foveal e a 500 μm e 1.500 μm de distância do centro da fóvea, nas regiões nasais e temporais. Dados de EDI-OCT e ERG foram analisados e as correlações do CT com a acuidade visual melhor corrigida (BCVA) e da espessura foveal central (CFT) foram realizadas. Resultados: As CTs subfoveais médias nos grupos CD e controle foram 240,70 ± 70,78 μm e 356,18 ± 48,55 μm, respectivamente. A CT subfoveal foi significativamente mais fina em pacientes com CD do que nos controles (p<0,001). Os com CD pacientes apresentaram também coroides significativamente mais finas do que os controles, em cada local de medição em relação à fóvea (p<0,001). A CT subfoveal no grupo CD se correlacionou com o CFT (p=0,012), mas nenhuma correlação significativa foi encontrada entre a CT subfoveal e a acuidade visual ou respostas fotópicas da ERG. Conclusões: O presente estudo demonstrou um afinamento significativo da coroide em pacientes com CD. A EDI-OCT é uma técnica útil para descrever as mudanças que ocorrem na coroide de pacientes com CD. Futuros estudos investigando a associação entre as alterações da coroide e a destruição da retina externa ou estágio da doença irão proporcionar uma melhor compreensão da fisiopatologia da CD.

Choroidal thickness profile in inherited retinal diseases in Indian subjects.

Purpose: To evaluate changes in choroidal thickness (CT) in inherited retinal diseases and its relationship with age, spherical equivalent, visual acuity, and macular thickness. Methods: Retrospective analysis of 51 eyes with features of retinal dystrophy of 26 subjects, who underwent enhanced depth imaging using spectral domain (SD) optical coherence tomography (OCT), were included. The CT measurements were made at the fovea and at 5 points with an interval of 500 microns in both directions, nasal and temporal from the fovea and were compared with age‑matched healthy subjects. Step‑wise regression was used to find the relationship between age, spherical equivalent, best‑corrected visual acuity (BCVA), central macular thickness (CMT), and subfoveal CT. Results: Disease distribution was as follows: Stargardt’s disease 18 eyes (9 subjects); Best disease 5 eyes (3 subjects); cone‑rod dystrophy 26 eyes (13 subjects); and Bietti’s crystalline dystrophy 2 eyes (1 subject). Mean subfoveal CT was 266.33 ± 76 microns. On regression analysis, no significant correlation was found between subfoveal CT and any other variable such as age (P = 0.9), gender (P = 0.5), CMT (P = 0.1), spherical equivalent (P = 0.3) and BCVA (P = 0.6). While comparing with age‑matched healthy subjects, no significant statistical difference was noted (P < 0.05) among all age groups. Conclusion: Our study reports quantitative changes in CT in various common inherited retinal diseases seen in Indian populations. To validate changes in choroid, a longitudinal study with larger sample size is warranted.

Clinical features of 11 patients with late-onset cone dystrophy / 中华眼底病杂志

Objective To observe the clinical features of late-onset cone dystrophy (LOCD).Methods Eleven patients (15 eyes) of LOCD were enrolled in this study.The patients included 7 males and 4 females.The age was ranged from 50 to 79 years,with a mean age of 60.2 years.There was no obvious photophobia and hemeralopia.The visual acuity was less than or equal to 0.05 in 4 eyes,0.06-0.2 in 5 eyes,0.3-1.0 in 6 eyes.Visual acuity,slit lamp microscope,indirect ophthalmoscopy,flash electroretinogram (FERG) and multifocal electroretinograms (mfERG) were examined for all patients,fundus fluorescein angiography (FFA) for 11 eyes,optical coherence tomography (OCT) and chromoptometry for 6 eyes.Results There were 6 eyes with red/green color blindness,2 eyes with color weakness.Normal fundus was found in 11 eyes,while derangement of macular pigment epithelial in 4 eyes.FFA results showed that there were 5 eyes with normal fundus,4 eyes with blocked fluorescent spots,2 eyes with oval macular atrophy.FERG results showed that in cone response,the amplitude was lower in 6 eyes (including mild decrease in 4 eyes,moderate decrease in 1 eye and severe decrease in 1 eye) ; both in cone and rod response,the amplitude were lower in 9 eyes.mfERG results showed that central part of the cone (less than 7 degree from the center) was damaged in 5 eyes,both central and peripheral part (outside of 7 degree) of the cone were damaged in 10 eyes.OCT results showed that pigment derangement in 3 eyes,fovea was normal in 8 eyes,thinned in 5 eyes (foveal thickness was 83-111 μm).Conclusions The fundus manifestations of LOCD patients are variable,from normal fundus to oval macular atrophy.FERG is abnormal,which mainly in cone response at early stage and both in cone and rod response at late stage.Central part and (or) peripheral part of the cone are abnormal by mfERG.

Distrofia Retiniana Familiar. Reporte de dos casos / Retinal Dystrophy Family. Report of two cases

La distrofia de conos es un grupo de enfermedades retinianas hereditarias en forma monogenética que siguen los patrones de herencia mendeliana, se caracterizan por baja de agudeza visual por afectación macular, con poca o ninguna repercución en retina periférica y deben diferenciarse de otras patologías como las degenerativas o las tóxicas. Es muy poco frecuente encontrar esta afectación en la consulta, sobre todo en dos miembros de una familia de edades 11 y 13 años de edad respectivamente, que se presentan con baja de agudeza visual con largo tiempo de evolución, sin antecedentes personales ni patológicos de importancia, es por eso que vemos por conveniente la presentación de estos casos clínicos. Se realizó una revisión oftalmológica completa con los exámenes disponibles en Cochabamba entre los cuales no se incluyo Electroretinograma. De acuerdo a las características del cuadro clínico baja de visión, heme-ralopía y fotofobia, y los exámenes realizados, retinografía, campo visual, test de color de FM 100, los cuales se encontraron alterados y, se llega presunción diagnóstica de una presencia de distrofia de conos dominante,con mal pronóstico visual, al no existir actualmente un tratamiento efectivo para evitar la progresión de la enfermedad, y en éstos casos se recomienda ayudas visuales con anteojos y lupas.

The cone dystrophy is a group of hereditary retinal diseases in a single gene that follow Mendelian inheritance patterns are characterized by low visual acuity macula, with little or no repercussion in the peripheral retina and should be distinguished from other pathologies such as degenerative or toxic. It is very rare to find this involvement in the consultation, especially two family members ages 11 and 13 years respectively, presented with low visual acuity with long evolution, no personal or important pathological , that is why we see presenting appropriate clinical cases. We performed a complete ophthalmologic examination with in Cochabamba, including Elec-troretinogram was not included. According to the characteristics of clinical low vision, night blindness and photophobia, and previous tests, fundus, visual field, color test FM 100, which were found altered and will reach a presumptive diagnosis of Duchenne presence of dominant cones, with poor visual prognosis, as there currently an effective treatment to prevent disease progression, and in these cases it is recommended visual aids and magnifying glasses.

Unusual macular thickness in Alport syndrome: case report / Espessura macular atípica na síndrome de Alport: relato de caso

This case report describes the presence of bilateral macular atrophy in a patient with Alport syndrome and compares this finding with literature. At fundoscopy, there was a discrete circumscribed macular thinning showing intense retinal pigment epithelium color and the presence of whitish circular retinal lesions ("dots" and "flecks") at nasal mid periphery of both eyes. Optical coherence tomography showed bilateral partial atrophy of the neurosensory retina in the macula, with a greater extent in the temporal region. This case describes a rare ophthalmological finding in Alport syndrome and important to be recognized for a precise diagnosis as well as for determining visual prognosis.

Este relato de caso descreve a presença de atrofia macular bilateral em uma paciente com síndrome de Alport e compara este achado com a literatura. Ao exame fundoscópico, havia discreto afinamento macular circunscrito demonstrando a coloração intensa do epitélio pigmentado da retina e a presença de lesões retinianas circulares esbranquiçadas ("dots" e "flecks") na média periferia nasal em ambos os olhos. A tomografia de coerência óptica identificou atrofia parcial da retina neurossensorial bilateral na mácula, com maior extensão na área temporal. O caso descreve uma alteração oftalmológica rara da síndrome de Alport e de importante reconhecimento para precisar o diagnóstico e também para determinar o prognóstico visual.

Retinose pigmentada unilateral secundária a trauma: relato de caso / Unilateral retinitis pigmentosa secondary to eye injury: case report

A retinose pigmentada constitui um grupo de doenças causadas por alterações genéticas que levam à degeneração progressiva dos fotorreceptores, principalmente bastonetes. Em geral, tem apresentação bilateral. Este estudo é um relato de caso de uma paciente com acometimento unilateral da retina, de características semelhantes às da retinose pigmentada, com história de trauma ocular antigo. Descrevem-se sua história clínica e achados oftalmológicos.

Retinitis pigmentosa is a group of diseases caused by genetic changes that lead to progressive degeneration of photoreceptors, rods mainly. In general, it has bilateral presentation. This study is a case report of a patient with unilateral involvement of the retina, similar to the characteristics of retinitis pigmentosa, and an old ocular trauma history. It describes her history and ophthalmologic findings.

Congenital Ocular Anomaly in an Infant with Trisomy 14 Mosaicism

Trisomy 14 mosaicism is a rare chromosomal abnormality with distinct and recognizable clinical features. We report a patient with presumed retinal dystrophy having diffuse retinal pigment epithelial abnormalities, which has not been previously reported in association with trisomy 14. This case expands the clinical spectrum of this rare entity.