Enucleated pseudoretinoblastoma: A six-year review from a Philippine Center

Objectives@#To evaluate the prevalence, etiologies, demographics, and clinical presentation of enucleated pseudoretinoblastoma. @*Methods@#This retrospective study reviewed ocular pathology records of enucleated globes with clinically diagnosed or suspected retinoblastoma submitted to a public university ocular pathology laboratory from 2013 to 2018. Hematoxylin-eosin-stained sections of pseudoretinoblastoma cases were reevaluated, and additional clinical data were taken from hospital charts.@*Results@#Of the 211 enucleated eyes with clinically diagnosed or suspected retinoblastoma, 202 (95.7%) had histologically confirmed retinoblastoma, while 9 (4.3%) had pseudoretinoblastoma. The most common ocular conditions mimicking retinoblastoma were retinal dysplasia (2 eyes) and persistent fetal vasculature (2 eyes). The pseudoretinoblastoma group consisted of 4 females and 5 males, and enucleated were 6 right eyes and 3 left eyes. The mean age at the time of enucleation was 3.65 years, and the mean symptom duration was 17.36 months. Leukocoria, which was noted in 4 patients, was the most frequent initial symptom. No significant difference between the pseudoretinoblastoma group and the retinoblastoma group were found in terms of sex, laterality of the enucleated eye, age at the time of enucleation, and symptom duration.@*Conclusion@#In this retrospective review, the prevalence of pseudoretinoblastoma in enucleated globes clinically suspected or diagnosed with retinoblastoma was 4.3%. Persistent fetal vasculature and retinal dysplasia were the most common pseudoretinoblastomas. Clinicians should perform a thorough clinical evaluation and judiciously utilize the available diagnostic means to differentiate retinoblastoma from pseudoretinoblastoma.

Retinal dysplasia in the crab-eating fox (Cerdocyon thous) / Displasia retiniana em cachorro-do-mato (Cerdocyon thous)

Previously described in humans and domestic animals, retinal dysplasia has three clinical forms: focal/multifocal, geographic and total. A young orphan crab-eating fox (Cerdocyon thous) from wildlife, male, approximately 45 days old referred to the Wildlife Medicine and Ophthalmology Services of the "Governador Laudo Natel" Veterinary Hospital of the Universidade Estadual Paulista, Jaboticabal Campus, SP, Brazil, where it received primary outpatient care. The patient was in good general health condition, without hematological, biochemistry or serological alterations and no signs of visual impairment. Indirect binocular ophthalmoscopy showed retinal changes in the left eye, distributed over the tapetal area in the form of grayish folds and rosettes. In the affected areas, tapetal reflectivity was reduced. No other ophthalmic abnormalities were observed. This is the first report of retinal dysplasia in the crab-eating fox (Cerdocyon thous) from wildlife.(AU)

Descrita no homem e em animais domésticos, a displasia de retina, se apresenta nas formas focal/multifocal, geográfica e completa. Um espécime de cachorro-do-mato (Cerdocyon thous) de vida livre, macho, com 45 dias de vida foi capturado e encaminhado aos Serviços de Medicina de Animais Selvagens e de Oftalmologia do Hospital Veterinário "Governador Laudo Natel" da Universidade Estadual Paulista ­ Unesp, Câmpus Jaboticabal-SP, Brasil, onde recebeu atendimento primário ambulatorial. O paciente apresentava-se em bom estado geral, sem alterações hematológicas e sorológicas, e não havia sinais de déficit visual. A oftalmoscopia binocular indireta mostrou alterações retinianas no olho esquerdo, distribuídas na área tapetal na forma de pregas e de rosetas de coloração acinzentada. Nas áreas acometidas, a reflectividade tapetal estava reduzida. Não foram observadas outras alterações oftálmicas. Trata-se do primeiro relato de literatura sobre displasia retiniana em cachorrodo-mato (Cerdocyon thous).(AU)

A review of pseudoretinoblastoma cases at a tertiary hospital

Objective@#To report various intraocular conditions that mimic retinoblastoma.@*Methods@#A review was conducted of eyeballs enucleated for suspected retinoblastoma between 2003 and 2007, and referred for histopathological confirmation. The slides of cases not histopathologically consistent with the diagnosis of retinoblastoma were reexamined. Clinical records and results of neuroimaging studies were reviewed retrospectively@*Results@#Of the 197 eyeballs examined, 182 (92%) proved to be retinoblastoma on histological exam, while 15 (8%) from 13 patients were pseudoretinoblastomas. The age of patients ranged from 4 months to 9 years, with a mean of 35.5 months. The etiologies of the pseudoretinoblastomas were as follows: persistent primary hyperplastic vitreous (PHPV) in 5 eyeballs (33%); retinal dysplasia in 3 (20%); Coats’disease, phthisis bulbi, and vitreous hemorrhage with retinal detachment in 2 (13%) each; and granulomatous endophthalmitis in 1 (8%).@*Conclusion@#The 8% erroneous diagnosis was lower than the published rates of 10 to 20%. The common etiologies of pseudoretinoblastoma were similar to those reported.

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.

Unilateral retinal dysplasia--a case report.

Retinal dysplasia is an uncommon condition and may be either unilateral or bilateral. It represents disturbed differentiation of neural ectoderm. It can be sporadic or may be associated with genetic defects. A case of unilateral retinal dysplasia in a 2 year old male child is reported.

Optical coherence tomographic view of persistent primary fetal vasculature

To report on the posterior segment changes in a patient with bilateral persistent primary fetal vasculature as detected by optical coherence tomography. An 18-year-old lady with poor vision, left esotropia and bilateral posterior polar cataract was found to have dysplasia of the macula in both the eyes. Fundus fluorescein angiography, optical coherence tomography, [A] scan biometry and genetic work up was performed as a part of investigation. There was increase in thickness of the macular area in both the eyes [450-500mm]. The left eye showed a [sail like] fold extending over macula, from nasal to temporal side. The tissue had the same sensitivity and thickness as inner the retinal layers [180-200mm]. There was no detectable nerve fibre layer in the macula of either eye. Fundus fluorescein angiography was normal in the right eye, and showed hyperfluorescence at the inferior pole of the disc in the left eye corresponding to the Bergmeister papilla. There was no staining of the membrane with the dye. Evaluation of the posterior segment is important in predicting the visual outcome in patients with any form of PFV. Optical coherence tomography is an adjuvant to direct visualization and aids in further delineating posterior segment changes seen in this condition

Microcephaly, retinal dysplasia, pedal edema, mental retardation, and short stature

Microcephaly, retinal dysplasia, pedal edema syndrome is a rare syndrome and possibly under diagnosed. We could find less than 25 cases reported in the literature. Patients were initially categorized as having either microcephaly and lymphedema or microcephaly and chorioretinal dysplasia. The existence of the 3 criteria in the same patients is reported. Other features such as mental retardation and short stature were noticed in other patients. In the Pediatric Department of the Armed Forces Hospital Southern Region, Kingdom of Saudi Arabia, we report a case with all clinical manifestations described in the above-related syndromes. The girl has microcephaly, retinal dysplasia, pedal edema, short stature, mental retardation, and some other dysmorphic features. The parents are not relatives, but both have retinal dysplastic changes. This report documents the existence of all different features reported in the literature in one patient, suggesting that different clinical features of reported patients are possibly the variable expression of the same syndrome

Displasia Septo/óptica. Reporte de un caso

Se informa el caso de un paciente de 7 meses de edad, a quien desd los 4 meses se detecta retar en el desarrollo motor, movimientos anormales en los ojops y disminución de la agudeza visual. Al examen presenta nistagmus horizontal, no realiza seguimiento visual y al fondo de ojo: hipoplasia de máculas y tono muscular disminuido en forma global. La resonancia magnética evidenció hipoplasia del nervio óptico, agenesia parcial del cuerpo calloso y retardo en la mielinización. Los potenciales evocados visuales con lesión óptica retiniana. Los hallazgos del cuadro clínico y de las imágenes de resonancia magnética de S.N.C. nos dan soporte para pensar de un cuadro de Displasia Septo Optica

A Case of Retinal Dysplasia with PHPV

Retinal dysplasia is an abnormal differentiation of the retina at embryonal retina stage with proliferation of its elements into rosettes, fold, and gliosis and it is very difficulat to distinguish between the various types of intraocular disease, especilaly retinoblastoma. We experienced a case of unilateral retinal dysplasia without systemic abnormalities occurring in a 5 months old boy. It was clinically suspected Retinoblastoma, which was proved to be Retinal Dysplasia by histopathologic examination.

Estudio histopatológico de la displasia retiniana / Retinal dysplasia, histopathology study

Se estudiarion 13 casos de displasia retiniana, entidad poco mencionada en la literatura. Encontramos que todos nuestros casos estuvieron asociados en mayor o menor grado con alteraciones congénitas sistématicas. Se apreció en el estudio histopatológico elementos abortivos de conos y bastones formando rosetas, disminución de las células ganglionares y alteraciones en el epitelio pigmentario. Casi todas las capas retinianas se comprometen en alguna forma, menos las membranas limitante externa e interna.

A case of Unilateral Retinal Dysplasia

Retinal dysplasia is defined as an abnormal differentiation of the retina with proliferation of its elements into resettes, folds, and gliosis. The clinical presentation is usually bilateral with a variety fo systemic abnormalities. We experienced a case of unilateral retinal dysplasia without systemic abnormalities occurring in a 2-month-old girl who underwent an enucleation of her right eye because of the possibility of retinoblastoma. We reviewed the available literatures regarding this disease.

A case of Unilateral Retinal Dysplasia

Retinal dysplasia is defined as an abnormal differentiation of the retina with proliferation of its elements into resettes, folds, and gliosis. The clinical presentation is usually bilateral with a variety fo systemic abnormalities. We experienced a case of unilateral retinal dysplasia without systemic abnormalities occurring in a 2-month-old girl who underwent an enucleation of her right eye because of the possibility of retinoblastoma. We reviewed the available literatures regarding this disease.

Disgenesias papilares y de retina: incluyendo un caso de papila contráctil y uno de enfermedad de Norrie / Disc and retina disgenesia: including a contractil papilla and 1 of Norrie`s disease

Se presentan 21 ojos con anomalías congénitas de papila y retina, detallando un caso de disgenesia papilar total o síndrome de Morning Glory, de tipo contráctil que evolucionó hacia una PVR masiva, y un caso de displasia retinal o Enfermedad de Norrie típicamente bilateral. Se discute la embriogénesis de estas anomalías, concluyendo que la displasia retinal ocurre en la sexta semana de gestación y que la disgenesia papilar total probablemente se sitúe en la cuarta semana gestacional, produciéndose por falta de obliteración de la copa óptica

Desgarros retinales y desprendimiento de retina como complicación de la trombosis de rama de la vena central / Retinal perforation and detachment as a complication of thrombosis of the central venous

Se presentan 12 casos clínicos de TRVCR complicados: 4 pacientes con desgarro retinal sin DR, 7 pacientes con DR rhegmatógeno, 1 paciente en DR traccional sin desgarro. Se analiza la antiguedad de la trombosis, ubicación, compromiso macular, neovascularización, estado del vítreo, tipo de desgarro y tratamientos efectuados. Se concluye que si bien, esta es una complicación poco frecuente, se la debe considerar para tratarla oportunamente y evitar la cirugía, especialmente por tratarse de pacientes con problemas generales que aumentan el riesgo quirúrgico. Se enfatiza el estudio del vítreo y la perfusión retinal del área afectada para reconocer factores que predispongan a esta complicación, siendo de importancia el seguimiento de los pacientes ya que estos casos se presentan tardíamente

Characteristics of fine Structures in the Experimental Retinal Dysplasia of Rats and Retinoblastoma: An electron microscopic study

Retinal dysplasia is an important disease in the study of retinal development. The differential diagnosis of retinal dysplasia from retinoblastoma is very difficult to make clinically, but histologically the diagnosis is made by the structure of rosettes. The authors experimentally gave trauma to retina of rats and produced retinal dysplasia; we observed under electron microscope the incomplete rosette of retinal dysplasia and the complete rosette appearing in retinoblastoma. We concluded that both rosettes are formed in developing retina with environmental or hereditary defects and did a comparative study of their characteristic fine structures.

An Experimental Stuiy on the Effect of Oxygen on Retinal Dysplasia in the Rat

Retinal dysplasia refers to a generally nonspecific lesion resulting from interference with the normal histogenesis of the developing retina. An earlier review of the pathogenesis of retinal dysplasia indicated that this lesion might re.sult from a wide variety of etiologic causes, including congenital retinal fold or chromosOJn;ai1 abnormality asaociated with generalized anomaly such as 13-15 trisomy syndrome etc. Recently, Ulany experimental retinal dysplasias have been induced by viral infection, irradiation or intrauterine mechanical damage. The single pathogenetic basis of retinal dysplasia appears to be associated with separation of t-the retina, during a critical stage of differentiation, from its underlying pigment epithelium which play an important role to transport nutrition and oxygen from choroid to outer retinal layers. In this experiment, authors aspirated lens material as much as possible at 5 days after birth, and administrated oxygen for 5 days in group I, 10 days in group 2 and 15 days in group 3 except for control group. Retinal dysplasias were developed in all instances, but noted lesser incidence of dysplastic formation in group 3 as compared with control or group 1 in which round and oval shaped rosettes, irregular infoldings, indifferentiated cell masses and separation of the developing retina from its normal relationship to the pigment epithelium were observed microscopically. The shape and origin of rosette in retinal dysplasia appeared to similar that of retinoblastoma in morphology.