Clinical features and genetic analysis of two Chinese pedigrees affected with Joubert syndrome / 中华医学遗传学杂志

OBJECTIVE@#To explore the clinical characteristics and genetic basis of two Chinese pedigrees affected with Joubert syndrome.@*METHODS@#Clinical data of the two pedigrees was collected. Genomic DNA was extracted from peripheral blood samples and subjected to high-throughput sequencing. Candidate variants were verified by Sanger sequencing. Prenatal diagnosis was carried out for a high-risk fetus from pedigree 2.@*RESULTS@#The proband of pedigree 1 was a fetus at 23+5 weeks gestation, for which both ultrasound and MRI showed "cerebellar vermis malformation" and "molar tooth sign". No apparent abnormality was noted in the fetus after elected abortion. The fetus was found to harbor c.812+3G>T and c.1828G>C compound heterozygous variants of the INPP5E gene, which have been associated with Joubert syndrome type 1. The proband from pedigree 2 had growth retardation, mental deficiency, peculiar facial features, low muscle tone and postaxial polydactyly of right foot. MRI also revealed "cerebellar dysplasia" and "molar tooth sign". The proband was found to harbor c.485C>G and c.1878+1G>A compound heterozygous variants of the ARMC9 gene, which have been associated with Joubert syndrome type 30. Prenatal diagnosis found that the fetus only carried the c.485C>G variant. A healthy infant was born, and no anomalies was found during the follow-up.@*CONCLUSION@#The compound heterozygous variants of the INPP5E and ARMC9 genes probably underlay the disease in the two pedigrees. Above finding has expanded the spectrum of pathogenic variants underlying Joubert syndrome and provided a basis for genetic counseling and prenatal diagnosis.

Prevalência de alterações oculares em lactentes no primeiro ano de vida / Prevalence of ocular alterations in infants in the first year of life

Objetivo: Analisar a prevalência de anormalidades oculares em um grupo de lactentes e descrever quais delas não seriam detectadas pelo teste do reflexo vermelho (TRV); analisar os aspectos críticos para o cuidado das anormalidades oculares encontradas. Introdução: Dados globais em relação à prevalência e causas de alterações oculares são escassos, em função da dificuldade de realizar trabalhos de base populacionais. Estima-se que atualmente existam cerca de 1.4 milhões de crianças com deficiência visual em todo o mundo e que metade dos casos sejam atribuídos à causas que têm prevenção ou tratamento. A deficiência visual na infância tem impacto direto sobre todos os aspectos do desenvolvimento infantil. O TRV é um método de rastreio de alterações na transparência dos meios oculares implementado no estado do Rio de Janeiro desde 2002. Ele tem auxiliado na prevenção da deficiência visual na infância, através da detecção precoce de alterações na transparência dos meios oculares. Métodos: Foi realizado um estudo transversal, dentro de um estudo de coorte prospectivo que avaliou mulheres gestantes e seus recém-nascidos (ZIP Study International Cohort Study of Children Born to Women Infected with Zika Virus During Pregnancy). As gestantes do estudo original foram recrutadas em 8 clínicas da família do município do Rio de Janeiro e seus recém-nascidos foram submetidos a um exame oftalmológico no primeiro ano de vida. Foi realizado o exame externo para avaliação das pálpebras, esclera, córnea, conjuntiva e cristalino, além da avaliação da motilidade extra ocular e oftalmoscopia indireta para avaliação do fundo de olho sob midríase. Foi feita uma análise descritiva e da prevalência das alterações oculares encontradas, analisando quais delas trariam comprometimento ao desenvolvimento visual e necessitariam de acompanhamento oftalmológico até resolução total do quadro. Além disso, quais dessas alterações não seriam detectadas apenas com o exame de rastreio disponível atualmente, o TRV. A refração, apesar de ter sido realizada durante a avaliação dos lactentes, não foi analisada. A partir das análises realizadas, foi feita uma avaliação dos aspectos críticos para o cuidado das alterações encontradas. Resultados: Foram avaliados 561 lactentes entre 09/03/2017 e 27/02/2019. A mediana de idade dos lactentes foi 1 mês (IQR 25-75: 1-2 meses). A prevalência de alterações oculares encontradas ao exame oftalmológico nos lactentes foi 5,7% (32/561), sendo 1,6% (9/561) passíveis de identificação pelo TRV. Todas as anormalidades posteriores e as que demandam a dilatação das pupilas para o seu diagnóstico não foram detectadas pelo TRV. Estas correspondem a 72% (23/32) de todas as alterações oculares encontradas. E foram elas: sinéquia posterior de íris, hipoplasia de nervo óptico, relação escavação/disco óptico aumentada, palidez de disco óptico bilateral, hemorragia retiniana, atenuação vascular, anormalidades da mácula e retinopatia da prematuridade. Noventa e quatro por cento (30/32) dos lactentes que apresentaram alteração ao exame precisaram de encaminhamento para acompanhamento oftalmológico. Conclusão: O TRV não identifica as alterações do segmento posterior do olho, que representam a maioria das anormalidades encontradas e que, apesar de não necessitarem de cirurgia, precisam de acompanhamento.

Purpose: To analyze the prevalence of ocular abnormalities in a group of infants, to describe those that would not be detected by the red reflex test (RRT) and to analyze the critical aspects for the care of eye abnormalities. Introduction: Global data regarding the prevalence and causes of ocular alterations are scarce, due to the difficulty of carrying out population-based studies. It is estimated that there are currently around 1.4 million children with visual impairment worldwide and that half of the cases are attributed to causes that are preventable or treatable. Visual impairment in childhood has a direct impact on all aspects of child development. RRT is a method of tracking changes in the transparency of ocular means implemented in the state of Rio de Janeiro since 2002. It has helped to prevent visual impairment in childhood, through the early detection of changes in the transparency of ocular means. Methods: A cross-sectional study was carried out within a prospective cohort study that evaluated pregnant women and their newborns (ZIP Study- International Cohort Study of Children Born to Women Infected with Zika Virus During Pregnancy). The pregnant women in the original study were recruited from 8 "Clínicas da Família" in the city of Rio de Janeiro and their newborns underwent an eye examination in the first year of life. An external examination was performed to assess the eyelids, sclera, cornea, conjunctiva and lens, in addition to the evaluation of extraocular motility and indirect ophthalmoscopy to evaluate the fundus of the eye under pupillary dilation. From the collected data, a descriptive analysis was made and t prevalence of ocular abnormalities found in the infants who participated in the study, analyzing which ones would compromise the visual development and would need ophthalmological follow-up until full resolution of the condition. Furthermore, which of these abnormalities would not be detected only by the screening test currently available, the RRT. Despite having being performed, the refraction was not analized. From the analyzes carried out, an assessment of the critical aspects for the care of the abnormalities found was carried out. Results: 561 infants were evaluated between 03/09/2017 to 02/27/2019. The infants' median age was 1 month (IQR 25-75: 1-2 months) and the prevalence of ocular abnormalities found on ophthalmological examination was 5.7% (32/561). The prevalence of ocular abnormalities detected by RRT in the study was 1.6% (9/561). All posterior abnormalities and those that require pupil dilation for diagnosis were not detected by the RRT. These correspond to 72% (23/32) of all ocular abnormalities. These were: posterior iris synechia, optic nerve hypoplasia, increased cup/optic disc ratio, bilateral optic disc pallor, retinal hemorrhage, vascular attenuation, macular abnormalities, and retinopathy of prematurity. Most ocular abnormalities, even transient ones with a potential for benignity, need ophthalmological follow-up until the complete resolution of the condition. In the study, 94% (30/32) of the infants who presented abnormalities on the exam needed to be referred for ophthalmological follow-up.

Inyección de gas intravítreo combinada con fotocoagulación con láser de argón para el tratamento de la maculopatía de la foseta del disco óptico sin vitrectomía / Intravitreal gas injection combined with argon laser photocoagulation for treatment of optic disc pit maculopathy without vitrectomy

RESUMEN Presentamos el caso de un paciente con foseta del disco óptico, quien presentó una disminución de la agudeza visual secundaria a desprendimiento seroso de retina. Se decidió realizar una inyección intravítrea de 0.3ml de gas C3F8 (100%), seguida de fotocoagulación con láser de argón en el borde temporal de la foseta, logrando reaplicación total de la retina, con reabsorción de todo el líquido subretiniano visible en la tomografía de coherencia optica (OCT) luego de 400 días. Además hubo una mejoría significativa en la agudeza visual.

ABSTRACT We present the case of a patient with an optic disk pit, presenting with great loss of visual acuity secondary to serous retinal detachment. The management chosen was an intravitreal injection of 0.3 mL of C3F8 (100%), followed by argon laser photocoagulation on the temporal edge of the pit, ), achieving total retinal reattachment , and reabsorption of all subretinal fluid visible at optical coherence tomography after 400 days, in addition to great improvement in visual acuity.

Morning glory disc anomaly associated with large facial infantile hemangioma as the presenting signs of PHACE syndrome / Anomalia de Morning Glory associada à extenso hemangioma infantil como apresentação da Síndrome PHACE

ABSTRACT Infantile hemangioma, the most common benign tumor in infancy, is usually an isolated condition occurring in many different locations in the body. However, large infantile hemangioma may be associated with other systemic malformations, including central nervous system, cerebrovascular, cardiac, and ophthalmology abnormalities, a condition termed PHACE syndrome. In this paper, we describe a case of PHACE syndrome that was presented with the unique association of a large facial infantile hemangioma and morning glory anomaly.

RESUMO O hemangioma infantil é a causa mais comum de tumor benigno na infância e usualmente é uma condição isolada podendo ocorrer em diferentes regiões do corpo. No entanto, hemangiomas infantil extensos podem ser associados com outras malformações sistêmicas incluindo anomalias no sistema nervoso central, cerebrovasculares, cardíacas e oftalmológicas, uma condição denominada síndrome PHACE. Neste trabalho, descrevemos o caso de um paciente com síndrome PHACE que se apresentou com um extenso hemangioma facial e anomalia de "morning glory".

Trichothiodystrophy: a case report of childhood glaucoma associated with non-acquired systemic disease / Tricotiodistrofia: relato de caso de glaucoma infantil associado a doença sistémica não adquirida

ABSTRACT Trichothiodystrophy belongs to a group of rare genetic diseases characterized by DNA repair anomalies. Ocular manifestations can occur in 50% of cases, including cataract, refractive errors, strabismus, microcornea, microphthalmia, dry eye, and pigmentary macular changes. We report a case of childhood glaucoma in a patient with trichothiodystrophy who underwent trabeculectomy in the left eye. To our knowledge, this is the first clinical report of childhood glaucoma associated with trichothiodystrophy.

RESUMO A tricotiodistrofia pertence a um grupo de doenças genéticas raras caracterizadas por anomalias da reparação do DNA. Manifestações oculares podem ocorrer em 50% dos casos, incluindo catarata, erros refrativos, estrabismo, microcórnea, microftalmia, olho seco e alterações maculares pigmentares. Relatamos um caso de glaucoma infantil em um paciente com tricotiodistrofia submetido à trabeculectomia no olho esquerdo. No nosso conhecimento, este é o primeiro caso descrito de glaucoma infantil associado à tricotiodistrofia.

PHACE syndrome: clinical manifestations, diagnostic criteria, and management

Abstract: Infantile hemangioma can be linked to other organ malformations. In 1996, PHACE syndrome was first defined as the association of large and segmental infantile hemangioma, usually on the face, head, or cervical region, with malformations of the posterior fossa of the brain, arterial anomalies of the central nervous system, coarctation of the aorta, cardiac defects, and ocular abnormalities. Over 300 cases of PHACE syndrome have been reported, and it is cconsidered one of the most common neurocutaneous vascular disorders in childhood. Knowledge of the features and locations of lesions that imply a greater risk of systemic involvement is crucial for the diagnosis and proper management of PHACE syndrome patients. This review highlights the diagnostic criteria for PHACE syndrome, the imaging workup for extracutaneous involvement, the treatment of infantile hemangioma, and the importance of a multidisciplinary approach in the management of these patients.

Criptoftalmos bilateral / Bilateral cryptophthalmos

El criptoftalmos se origina por un defecto congénito en la migración de la cresta neural que da lugar a un desarrollo anormal de los párpados y de las estructuras oculares anteriores. Se presenta la evolución de un lactante masculino de 6 meses de edad con criptoftalmos. Al examen oftalmológico se constata agenesia de los párpados. La piel transcurre desde la frente pasando por encima del esbozo de los globos oculares hasta la mejilla y ausencia de toda la arquitectura palpebral. El resto de las estructuras faciales son normales. El diagnóstico fue basado en la historia clínica y la realización de pruebas como la ecografía ocular, la tomografía axial computadorizada de órbita y cráneo, así como otros estudios, los cuales confirman el diagnóstico(AU)

Cryptophthalmos comes from a congenital defect in the neural crest migration that gives rise to abnormal development of eyelids and of the anterior ocular structures. Here is the case of a male 6 months-old infant with cryptophthalmos. The ophthalmological exam revealed eyelid agenesis. The infant´s skin went down from the forehead, passing over the eyeball up to the cheek, but the eyelid architecture was absent. The rest of the facial structures were normal. The diagnosis was based on the medical history and some tests as the ocular echography, the orbit and cranial computerized tomography and other studies which confirm the diagnosis(AU)

Anoftalmia clínica associada a coloboma e malformações sistêmicas: etiologia e relação oftalmologista-paciente / Clinical anophthalmia and coloboma associated with systemic malformations: etiology and ophthalmologist-patient relationship

RESUMO O presente relato refere-se a uma paciente de 2 anos e 9 meses de idade, portadora de anoftalmia clínica à direita associada a coloboma posterior à esquerda e malformações sistêmicas. A mãe foi vacinada contra rubéola três meses antes da concepção e, ao nascimento, os exames laboratoriais mostraram título de anticorpos IgG de 267 UI/mL para rubéola e 3,5 UI/mL para citomegalovírus, sendo o IgM negativo para ambos. As anormalidades encontradas possuem características de síndrome da rubéola congênita (SRC) e infecção congênita por citomegalovírus. Também podem constituir alteração genética, decorrer de outras etiologias ou apresentarse sem explicação. A avaliação psicológica da paciente foi normal e a mesma encaminhada para reabilitação visual. A mãe manifestou sintomas depressivos e indicado tratamento especializado. Outros estudos serão necessários para esclarecer a etiologia das malformações oculares congênitas e os cuidados holísticos a serem valorizados durante a relação oftalmologista-paciente.

ABSTRACT This report refers to a two years and nine months patient, carrier of clinical anophthalmia in her right eye associated with posterior coloboma in her left eye and systemic malformations. The mother was vaccinated against rubella three months before conception and, at birth, the laboratory tests showed 267 IU/mL for rubella IgG antibodies level and 3,5 IU/mL for cytomegalovirus, being IgM antibodies negative for both. The abnormalities found have characteristics of congenital rubella syndrome (CRS) and congenital cytomegalovirus infection. It can also constitute genetic alteration, derive from other etiologies or present themselves without explanation. The patient’s psychological evaluation was within normal limits, being referred for vision rehabilitation. The mother manifested depressive symptoms, being shown to her specialized treatment. Further studies are needed to clarify the etiology of congenital eye malformations and the holistic cares to be valued during the relationship ophthalmologist-patient.

Double-setting alpha-tricalcium phosphate cement provided with interconection channels in rabbits after enucleation: a potential implant for the anophthalmic socket / Cimento de alfa-fosfato tricálcico de dupla pega munido de canais de interconexão em coelhos enucleados: um possível implante para cavidade anoftálmica

The purpose of this study was to evaluate the macroscopy and microstructure of a double setting alpha-tricalcium phosphate bone cement sphere provided with interconnection channels (alpha-TCP-i), as well as the integration of the implant with the rabbits' orbital tissue, through macroscopic analysis and histopathology. The external and internal surfaces of the alpha-TCP-i were evaluated macroscopically and by electron microscopy. Twelve New Zealand rabbits received 12mm implants of alpha-TCP-i following enucleation of the left eye. The clinical assessment was undertaken daily during the first 15 days, followed by fortnightly assessment until the end of the study period. For the morphological analysis, exenteration was performed in 3 animals per experimental period (15, 45, 90 and 180 days). The external and internal surfaces of the implant appeared solid, smooth and compact, with six channels which interconnected centrally. The micro-architecture was characterized by the formation of columns of hexagonal crystals. No signs of infection, exposure, dehiscence of sutures or extrusion of the implant were noted in any of the animals during the entire period of the study. The morphological evaluation demonstrated the presence of a thin capsule around the implant, from whence appeared fibro-vascular projections, which penetrated it through the interconnecting channels. In the first days after the insertion of the implant, an intense inflammatory reaction was noted. At 180 days, however, there were no signs of inflammation. The alpha-tricalcium phosphate cement implant was well tolerated in this rabbit model and appeared to be relatively inert with some fibrovascular ingrowth through the large channels.

Avaliaram-se a macroscopia e a microestrutura de esferas compostas por cimento ósseo de alfa-fosfato tricálcico de dupla pega munido de canais de interconexão (alfa-TCP-i) e a integração do implante ao tecido orbital de coelhos através de análise macroscópica e histopatológica. A superfície interna e externa do alfa-TCP-i foi avaliada macroscopicamente e por microscopia eletrônica. Após enucleação do bulbo ocular esquerdo, 12 coelhos da raça Nova Zelândia receberam implantes do alfa-TCP-i com 12mm de diâmetro. A avaliação clínica foi realizada diariamente nos primeiros 15 dias e depois a cada quinze dias até o fim do período de estudo. Para análise morfológica, seguiu-se a exenteração de três animais por período experimental (15, 45, 90 e 180 dias). As superfícies externa e interna do implante mostraram-se compactas, sólidas e lisas, com seis canais que se interconectavam centralmente. A microarquitetura caracterizou-se pela formação de colunas de cristais hexagonais. Sinais de infecção, exposição, deiscência de sutura ou extrusão não foram notados em nenhum dos animais durante o período de estudo. A análise morfológica revelou a presença de fina cápsula ao redor do implante de onde surgiram projeções fibrovasculares que o penetraram através dos canais de interconexão. Nos primeiros dias após a inserção das esferas, notou-se intensa reação inflamatória que se mostrou ausente aos 180 dias. O implante do cimento de alfa-fosfato tricálcico foi bem tolerado em coelhos, mostrou-se relativamente inerte e permitiu a infiltração de tecido fibrovascular através dos canais de interconexão.

Síndrome de PHACES / PHACES syndrome

El síndrome de PHACE consiste en una entidad neurocutánea, cuyo nombre deriva del acrónimo en inglés para la constelación de alteraciones asociadas a algunos hemangiomas segmentarios de localización cefálica-cervical: Malformaciones de fosa Posterior, hemangiomas, anormalidades arteriales, coartación de la aorta y defectos cardíacos, anomalías oculares. Cuando se encuentran defectos de la línea media (Sternal defects) se denomina síndrome de PHACES. Su etiología es desconocida y se presenta con mayor frecuencia en mujeres. Requiere de un estudio exhaustivo de malformaciones asociadas, dado que pueden ser causa importante de morbimortalidad. Presentamos nuestra experiencia en dos casos clínicos, con excelente respuesta a tratamiento con propranolol, junto con una revisión de la literatura.

PHACE syndrome is a neurocutaneous entity, derived from an acronym that describes the constellation of alterations associated with some segmental hemangiomas in the cephaliccervical region: Posterior fossa malformations, hemangiomas, arterial anomalies, aorta coarctation, cardiac defects, and eye abnormalities. When midline anomalies are found (Sternal defects) the term PHACES syndrome is used. Its etiology is unknown, and is more frequent in females. It requires a thorough study of associated malformation, because is an important source or morbimortality. We present our experience with two cases, with excelent response to treatment with propranolol, along with a review of the literature.

A Family with Axenfeld-Rieger Syndrome: Report of the Clinical and Genetic Findings

PURPOSE: To describe clinical findings in a Korean family with Axenfeld-Rieger syndrome. METHODS: A retrospective review of clinical data about patients with diagnosed Axenfeld-Rieger syndrome. Five affected members of the family underwent a complete ophthalmologic examination. We screened the forkhead box C1 gene and the pituitary homeobox 2 gene in patients. Peripheral blood leukocytes and buccal mucosal epithelial cells were obtained from seven members of a family with Axenfeld-Rieger syndrome. DNA was extracted and amplified by polymerase chain reaction, followed by direct sequencing. RESULTS: The affected members showed iris hypoplasia, iridocorneal adhesions, posterior embryotoxon, and advanced glaucoma in three generation. None had systemic anomalies. Two mutations including c.1362_1364insCGG and c.1142_1144insGGC were identified in forkhead box C1 in four affected family members. CONCLUSIONS: This study may help to understand clinical findings and prognosis for patients with Axenfeld-Rieger syndrome.

Congenital Aniridia: Long-term Clinical Course, Visual Outcome, and Prognostic Factors

PURPOSE: To describe the clinical course of congenital aniridia and to evaluate prognostic factors for visual outcome after long-term follow-up. METHODS: The medical records of 120 eyes from 60 patients with congenital aniridia were retrospectively reviewed. The prevalence and clinical course of ophthalmic characteristics, systemic disease, refractive errors, and visual acuity were assessed. Prognostic factors for final visual outcomes were analyzed. RESULTS: Aniridic keratopathy developed in 82 (69%) of 119 eyes. Macular hypoplasia was observed in 70 eyes of 35 patients (91%). Cataract was observed in 63 of 120 eyes (53%). Nystagmus was present in 41 patients (68% of 60 patients) at the initial visit but decreased in five patients (8% of 60 patients). Ocular hypertension was detected in 19 eyes (20% of 93 eyes), six (32% of 19 eyes) of which developed secondarily after cataract surgery. The mean changes in spherical equivalent and astigmatism during the follow-up period were -1.10 and 1.53 diopter, respectively. The mean final visual acuity was 1.028 logarithm of minimal angle of resolution. Nystagmus and ocular hypertension were identified as prognostic factors for poor visual outcome. CONCLUSIONS: Identification of nystagmus and ocular hypertension was important to predict final visual outcome. Based on the high rate of secondary ocular hypertension after cataract surgery, careful management is needed.

Bilateral Free Floating Vitreous Cysts with Posterior Embryotoxon

No abstract available.

Scheimpflug imaging in anterior megalophthalmos.

We report an anterior megalophthalmos case with decreased corneal thickness and show the findings using Scheimpflug imaging. A 25-year-old male was diagnosed with anterior megalophthalmos. In both eyes, enlarged corneal length was measured. Beside a comparatively good visual acuity, a thin but clear cornea, a fairly deep anterior chamber, and central lens opacity were found. Scheimpflug images were taken using Pentacam HR. Scheimpflug-based imaging can provide us new data at the examination of this syndrome affecting the whole anterior segment.

Joubert Syndrome.

Joubert syndrome is a very rare condition seen in our country. Herein, we report a case of Joubert syndrome in a one year four months old, male baby from a consanguineous marriage presenting with delayed developmental milestone, hypotonia, abnormal respiratory pattern and nystagmus . Cranial MRI shows ‘‘Molar Tooth Sign’’.

Oculo-facio-cardio-dental syndrome in three succeeding generations: genotypic data and phenotypic features

Oculo-facio-cardio-dental (OFCD) syndrome is a rare X-linked disorder mainly manifesting in females. Patients show ocular, facial, cardiac, and dental abnormalities. OFCD syndrome is caused by heterozygous mutations in the BCOR gene, located in Xp11.4, encoding the BCL6 co-repressor. We report a Croatian family with four female members (grandmother, mother and monozygotic female twins) diagnosed with OFCD syndrome who carry the novel BCOR mutation c.4438C>T (p.R1480*). They present high intrafamilial phenotypic variability with special regard to cardiac defect and cataract that showed more severe disease expression in successive generations. Clinical and radiographic examination of the mother of the twins revealed a talon cusp involving the permanent maxillary right central incisor. This is the first known report of a talon cusp in OFCD syndrome with a novel mutation in the BCOR gene.

Double anterior chamber in a patient with glaucoma and microspherophakia.

We report the case of a 16-year-old woman with microspherophakia and secondary open angle glaucoma. The patient presented with a membrane dividing the anterior chamber into two segments without edema or Descemet's membrane detachment. Slit lamp biomicroscopy, Pentacam, and specular microscopy images were obtained. Double anterior chamber is primarily found in patients with anterior chamber anomalies when there is no history of surgery or trauma.

Fibrosis unilateral congénita con enoftalmo y ptosis / Congenital unilateral fibrosis with enophthalmos and ptosis

El síndrome de fibrosis congénita es definido como un grupo de desórdenes congénitos raros caracterizado por la restricción de los músculos extraoculares y el reemplazo de los músculos por el tejido fibroso. Muchos autores utilizan la clasificación en la que se manifiesta en cinco tipos diferentes. El caso que se presenta corresponde a un niño quien desde el nacimiento está imposibilitado de elevar su ojo izquierdo. Al examen oftalmológico resultó positivo una ptosis palpebral en su ojo izquierdo, enoftalmo, limitación de la abducción, elevación en supraabducción y depresión. La agudeza visual en ambos ojos era de la unidad. El diagnóstico confirmado por genética fue de una fibrosis unilateral congénita con enoftalmo y ptosis. A pesar de tratarse de un desorden genético poco común, tiene formas esporádicas más raras aún. De ahí la importancia de presentar este caso, poco frecuente en nuestra práctica médica diaria

The syndrome of congenital fibrosis is defined like a group of rare congenital disorders characterized by restriction of extraocular muscles and replacement of fibrous tissue muscles. Many authors use the classification in which it is manifested in five different types. Present case is a child who from its birth can not to raise its left eye. The ophthalmic examination was positive to palpebral ptosis in this eye, enophthalmos, limitation of abduction, raise in supra-abduction and depression. The visual acuity in both eyes was of the unit. The diagnosis confirmed by genetics was that of a congenital unilateral fibrosis with enophthalmos and ptosis. Despite it is uncommon genetic disorder, it has more rare sporadic ways yet. Presentation of this uncommon case in our daily medical practice is very significant