Congenital renal dysplasia, retinal dysplasia and mental retardation associated with hyperprolinuria and hyper-oh-prolinuria.
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Adolescent↗
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Results for “Retinal Dysplasia”
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Retinal dysplasia.
Retinal dysplasia is defined as an abnormal growth and differentiation of embryonic retina being more a secondary lesion rather than a disease. Clinically, the disorder may present itself in a surprisingly wide range of severity or of degree from retinal folds to vascularized masses in the vitreous cavity. The condition may appear monosymptomatically, involving only the eye, or as complex disorders with multisystemic anomalies. The histopathologic findings in this disorder recognize characteristic structural deviations of the retina and the pathogenesis seems to be related to the lack of the normal histogenesis of the pigment epithelium. Impaired genetic mechanisms seem to contribute to the etiology of some forms of retinal dysplasia.
Abnormalities, Multiple↗
Time-specific action of N-methyl-N-nitrosourea in the occurrence of retinal dysplasia and retinal degeneration in neonatal mice.
The morphologic response of neonatal mouse retina to the alkylating agent N-methyl-N-nitrosourea (MNU) was examined at different periods of retinal development. A dose of 60 mg/kg N-methyl-N-nitrosourea was injected intraperitoneally to neonatal C57BL mice at 0, 3, 5, 8, 11, 14, 17, and 20 days of age and to C3H mice at 0 days of age, and the retinas were examined sequentially. In the C57BL mice, MNU evoked a time-dependent occurrence of retinal dysplasia and retinal degeneration. With MNU treatment at day 0 and day 3 (the stage of retinal cell proliferation), retinal dysplasia characterized by the progressive disorganization of neuroblasts, which led to the formation of rosettes, was found in the outer neuroblastic/nuclear layer above the normal pigment epithelial cells during days 8-20, but decreased at day 50. The rosettes were surrounded by photoreceptor segments and Müller cell processes, and by photoreceptor nuclei. The MNU response was related to retinal differentiation; following MNU treatment at day 5 or 8 (the stage of retinal cell differentiation) the cells were much less sensitive (i.e. no retinal response was found). However, with MNU treatment at days 11, 14, 17, and 20 (after cellular differentiation), retinal degeneration characterized by selective photoreceptor apoptosis was seen. These results suggest that there is a critical period for the time of MNU administration in the development of mouse retinal lesions. In C3H (rd/rd) mice, MNU treatment at day 0 resulted in retinal degeneration with only slight rosette formation at the peripheral retina.
Animals↗
[Retinal dysplasia. Morphological identity of the retinal dysplasia syndrome (Reese) and D (13-15) trisomy syndrome (Patau)].
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Abnormalities, Multiple↗
[Retinal dysplasia in dogs--a review].
Retinal dysplasia is a developmental aberration of the neuroretina characterized by formation of retinal tubules, malformation rosettes and folding of the retina. Retinal dysplasia has been reported in Bedlington Terrier, Sealyham Terrier, Beagle, Labrador Retriever, English Cocker Spaniel, American Cocker Spaniel, English Springer Spaniel, Yorkshire Terrier and Rottweiler. A hereditary basis for retinal dysplasia has been proved or suggested for all breeds exhibiting retinal dysplasia except Beagle and Rottweiler. Ophthalmoscopically retinal dysplasia is characterized by vermiform streaks often radiating from the optic disc. The reflectivity of the tapetum is often altered in these areas. Accompanying retinal detachment or cataractous changes in the lens may be seen. Extensive retinal dysplasia and retinal detachment or cataract may result in visual impairment or blindness. Eyes exhibiting retinal dysplasia may be classified according to the number of layers from the retinal structure that are represented in the rosettes. Three-layer rosette. Two-layer rosette. Single-layer rosette. Primitive unilayer rosette. The etiology of retinal dysplasia includes viral disorders, irradiation, X-radiation, intrauterine trauma and heritable factors.
Animals↗
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.
Child, Preschool↗
Experimental retinal dysplasia due to cytosine arabinoside.
Retinal dysplasia was produced in newborn rats treated postnatally with the antimitotic substance, cytosine arabinoside (ara-C). In rats examined from 6 to 60 days, there were numerous retinal rosettes surrounded by photoreceptor cells and bipolar cells containing photoreceptor cell processes, displaced nuclei, and cellular debris. Abnormal development and alignment of photoreceptor cell processes were commonly observed. Cellular degeneration was evident at all ages, and infiltrating phagocytic cells were especially numerous in the retina of treated rats examined at 60 days. Characteristic features of ara-C-induced retinal dysplasia included the scattering of bipolar cell nuclei in the inner and outer nuclear layers and marked reduction in the width of the affected retina. Considerable retinal and cerebellar development occurs postnatally in the rat, thus newborn animals might be useful in the testing of possible teratogenic drugs.
Animals↗
Congenital glaucoma and retinal dysplasia.
The differential diagnosis of leukocoria (pseudoglioma) in the neonate includes multiple conditions, including malformations with retinal dysplasia as a component. Typically bilateral, retinal dysplasia is characteristically seen in microphthalmic eyes. Certain chromosomal defects have been described. The case reported herein presented in the first month of life with an enlarged eye, elevated intraocular pressure, prominent iris vasculature, and leukocoria. Family history was positive in one respect: this is the second child of a Viet Nam veteran exposed to Agent Orange. The first child, from a different mother, also had birth defects. Other than his left eye, the child is completely normal. Ultrasonography showed posterior vitreous opacities of indeterminate configuration. CT scan suggested a posterior intraocular mass. Histologically, the principal features were an anomalous, largely unformed corneoscleral angle, intraocular hemorrhage, and retinal dysplasia. Light microscopic studies were performed. The corneoscleral angle revealed an anteriorly inserted iris with an absence of trabecular meshwork and Schlemm's canal. This case is considered unique on the basis of the association of retinal dysplasia with congenital glaucoma and larger-than-normal eye. The significance of reported paternal exposure to Agent Orange in this instance is unknown.
2,4,5-Trichlorophenoxyacetic Acid↗
Inherited retinal dysplasia and persistent hyperplastic primary vitreous in Miniature Schnauzer dogs.
The objectives of this study were to define the clinical syndrome of retinal dysplasia and persistent primary vitreous in Miniature Schnauzer dogs and determine the etiology. We examined 106 Miniature Schnauzers using a biomicroscope and indirect ophthalmoscope. The anterior and posterior segments of affected dogs were photographed. Four enucleated eyes were examined using routine light microscopy and scanning electron microscopy. A pedigree was constructed and related dogs were test-bred to define the mode of inheritance of this syndrome. Congenital retinal dysplasia was confirmed in 24 of 106 related Miniature Schnauzer dogs. Physical and postmortem examinations revealed that congenital abnormalities were limited to the eyes. Biomicroscopic, indirect ophthalmoscopic, and neuro-ophthalmic examinations confirmed that some of these dogs were blind secondary to bilateral retinal dysplasia and detachment (nonattachment) (n = 13), and the remainder had generalized retinal dysplasia (n = 11). Fifteen of these dogs were also diagnosed with unilateral (n = 9) or bilateral (n = 6) persistent hyperplastic primary vitreous. Nutritional, infectious, or toxic etiologies were not evident on physical, postmortem, light microscopic, or transmitting and scanning electron microscopic examination of four affected Miniature Schnauzers. We examined the pedigree and determined that an autosomal recessive mode of inheritance was most likely. Three test-bred litters including those from affected parents, carrier and affected parents, and carrier parents confirmed this mode of inheritance. This study confirms that retinal dysplasia and persistent hyperplastic primary vitreous is a congenital abnormality that is inherited as an autosomal recessive condition in Miniature Schnauzers.
Animals↗
[Retinal dysplasia with hydrocephalus (author's transl)].
A Study is described of a family in which four children of the same generation died during early childhood; three of them had an obvious hydrocephalus. Two of the latter could be examined clinically, and their eyes removed for pathology. One of them presented clinically bilateral leucocoria; histology showed a total detachment of a dysplastic retina, with absence of development of the vitreous. The other child had apparently normal eyes. Yet on microscopical examination there was a discrete retinal dysplasia without retinal detachment in both eyes, and a persistent hyaloid artery, in one. This association of hydrocephalus with retinal dysplasia is clinically and genetically different from other types of retinal dysplasia.
Abnormalities, Multiple↗
Glial-, neuronal- and photoreceptor-specific cell markers in rosettes of retinoblastoma and retinal dysplasia.
Previous studies have shown that a rosette formation represents an attempt to form embryonic retinal tissue, primarily rods and cones. To test the theories as to the origin and characteristics of retinoblastoma cells, we compared the characteristics of tumor rosettes with those of dysplastic rosettes seen in retinal dysplasia using the glial, neuronal and photoreceptor markers. Forty-four retinoblastoma and one retinal dysplasia specimens were analyzed by indirect immunohistochemistry, using specific antibodies against glial fibrillary acidic protein, S-100 protein, myelin basic protein, neuron-specific enolase, neurofilament, retinal S-antigen and retinal pigment epithelial antigen. In human retinoblastoma, all the glial, neuronal, retinal pigment epithelial, and photoreceptor cell markers, except for the neurofilament, were present in parts of rosette-forming tumor cells. However, their localization was different for each antigen and it was not clear whether each tumor cell possesses several antigens. These immuno-positive tumor cells were cytologically indistinguishable from other rosette-forming cells at the light microscopic level. In retinal dysplasia, neuron specific enolase and retinal S-antigen were diffusely expressed in the dysplastic rosettes, however, other antigen were not seen in those rosettes. The staining pattern by immunocytochemistry is totally different in tumor rosettes from dysplastic ones. We found varying localizations of different immunoreactivities within tumor rosettes. These results led us to suggest that tumor cells in the rosettes of retinoblastoma may have the ability to differentiate into neural and glial cells. To prove the theory that retinoblastoma cells may have originated from a primitive neuroectodermal cell capable of multipotentiality, further investigation is needed.
Biomarkers, Tumor↗
The geographic form of retinal dysplasia in dogs is not always a congenital abnormality.
To examine the congenital nature of the geographic form of focal/multifocal retinal dysplasia, we carried out a retrospective analysis of the medical records of dogs produced in a closed colony of service dogs who receive very thorough ophthalmologic examinations early in their life, and later, when they return for training. Medical records were reviewed from all dogs produced by The Seeing Eye, Inc. between October 1991 and September 1998, and which had a diagnosis of geographic retinal dysplasia coded. We identified 23 dogs of five different breeds or interbreed crosses that comprise the breeding and production program (Golden Retrievers, German Shepherds, Labrador Retrievers, Labrador Retriever/Golden Retriever cross and German Shepherd/Labrador Retriever cross) in which the results of at least two complete ophthalmic examinations were documented, the first before 10 weeks of age, and the second when the dog was a young adult. Of the 23 dogs, only one was identified as affected with the geographic form of retinal dysplasia when examined at 5-6 weeks of age. The remaining dogs were normal. Our findings indicate that, in most cases, the geographic form of retinal dysplasia is not present in dogs prior to 10 weeks of age. These findings indicate the need to revise recommendations for early screening of dogs for retinal dysplasia.
Journal Article↗
The heterozygote female in X-linked recessive primary retinal dysplasia.
Three families with primary retinal dysplasia are reported. The ophthalmoscopical findings vary from congenital retinal folds to highly disorganized tumor-like protrusions in the vitreous cavity. The family pedigrees along with the clinical features support an X-linked recessive mode of transmission for this condition. Female carriers for this gene may show retinal fold changes. In addition some of these presumed female carriers also demonstrated changes in the stroma of their irides resulting in a gray to grayish-blue color.
Adult↗
X-linked recessive primary retinal dysplasia is linked to the Norrie disease locus.
X-linked primary retinal dysplasia (PRD) refers to an abnormal proliferation of retinal tissue causing either its neural elements or its glial tissue to form folds, giving rise to gliosis. A Jewish family of oriental origin was previously reported by Godel and Goodman, in which a total of five males suffer from different degrees of blindness. The authors postulated that the described findings are distinguished from Norrie disease, since in this case no clinical findings, other than those associated with the eyes, were noticed in the affected males. In addition, two of the carrier females exhibit minimal eye changes. We have performed linkage analysis of the family using the L1.28, p58-1 and m27 beta probes, and DXS426 and MAOB associated microsatellites. Our results map the gene responsible for the disorder between the MAOB and DXS426, m27 beta and p58-1 loci, on the short arm of the X chromosome at Xp11.3, which suggest the possibility that the same gene is responsible for both primary retinal dysplasia and Norrie disease.
Blindness↗
Differential mitochondrial DNA and gene expression in inherited retinal dysplasia in miniature Schnauzer dogs.
PURPOSE: To investigate the molecular basis of inherited retinal dysplasia in miniature Schnauzers. METHODS: Retina and retinal pigment epithelial tissues were collected from canine subjects at the age of 3 weeks. Total RNA isolated from these tissues was reverse transcribed to make representative cDNA pools that were compared for differences in gene expression by using a subtractive hybridization technique referred to as representational difference analysis (RDA). Expression differences identified by RDA were confirmed and quantified by real-time reverse-transcription PCR. Mitochondrial morphology from leukocytes and skeletal muscle of normal and affected miniature Schnauzers was examined by transmission electron microscopy. RESULTS: RDA screening of retinal pigment epithelial cDNA identified differences in mRNA transcript coding for two mitochondrial (mt) proteins--cytochrome oxidase subunit 1 and NADH dehydrogenase subunit 6--in affected dogs. Contrary to expectations, these identified sequences did not contain mutations. Based on the implication of mt-DNA-encoded proteins by the RDA experiments we used real-time PCR to compare the relative amounts of mt-DNA template in white blood cells from normal and affected dogs. White blood cells of affected dogs contained less than 30% of the normal amount of two specific mtDNA sequences, compared with the content of the nuclear-encoded glyceraldehyde-3-phosphate dehydrogenase (GA-3-PDH) reference gene. Retina and RPE tissue from affected dogs had reduced mRNA transcript levels for the two mitochondrial genes detected in the RDA experiment. Transcript levels for another mtDNA-encoded gene as well as the nuclear-encoded mitochondrial Tfam transcription factor were reduced in these tissues in affected dogs. Mitochondria from affected dogs were reduced in number and size and were unusually electron dense. CONCLUSIONS: Reduced levels of nuclear and mitochondrial transcripts in the retina and RPE of miniature Schnauzers affected with retinal dysplasia suggest that the pathogenesis of the disorder may arise from a lowered energy supply to the retina and RPE.
Animals↗
Heritability of multifocal retinal dysplasia in American Cocker Spaniels.
Multifocal retinal dysplasia was detected in 96 American Cocker Spaniels. Affected dogs were part of approximately 500 American Cocker Spaniels examined from 1972 to 1976 in statewide survey clinics for inherited cataracts and progressive retinal atrophy. The dysplastic retina was observable ophthalmoscopically in dogs as young as 3 to 4 weeks and as old as 7 years. Ophthalmoscopic features varied, depending on whether the dysplastic foci were in the tapetal or non-tapetal portion of the fundus. Over the tapetum, dysplastic foci appeared as multiple small irregularities of diminished and altered tapetal reflectivity. In the non-tapetal fundus, dysplasia appeared as areas of decreased pigmentation. Blindness or other apparent visual deficits were not observed in affected dogs. Histologic examination of affected eyes revealed focal dysplasia limited to the retina and optic nerve. Abnormalities included localized areas of retinal folding, rosettes, and retinal pigment epithelium hypertrophy and hyperplasia. Pedigree analysis demonstrated that 71 of the 96 affected dogs were related and could be identified in an extended pedigree. A recessive mode of inheritance was suggested, because in 5 litters (born to 10 affected parents), all 23 progeny that lived were affected. A dominant or polygenic mode of inheritance could not be ruled out.
Animals↗
Retinal dysplasia--A report of two surgical cases.
Two surgical cases of retinal dysplasia are reported. The one is unlateral (left-sided) with microphthalmus and the other bilateral. Chromosome test in the latter case showed no abnormality. In both cases the left eye was enucleated under the clinical diagnosis of retinoblastoma. There was a mass of loose connective tissue behind the lens which was covered by a completely detached retina. Histological examination revealed the presence of branching tubes of primitive retinal structure and large rosettes. The use of the term retinal dysplasia in distinction from Reese's syndrome is mentioned and some morphological characteristics of primitive retinal structure are described.
Abnormalities, Multiple↗
Excess cone cell proliferation due to lack of a functional NR2E3 causes retinal dysplasia and degeneration in rd7/rd7 mice.
The rd7 mouse is a model for hereditary retinal degeneration characterized clinically by retinal spotting throughout the fundus and late onset retinal degeneration, and histologically by retinal dysplasia manifesting as folds and whorls in the photoreceptor layer. This study demonstrates that the rd7 phenotype results from a splicing error created by a genomic deletion of an intron and part of an exon. Hematoxylin/eosin staining of rd7 tissue shows that the whorls in the outer nuclear layer of the retina do not appear during embryonic development but manifest by postnatal day 12.5 (P12.5). Furthermore, in situ hybridization data indicates that the Nr2e3 message is first present at barely discernable levels at embryonic day 18.5, becomes abundant by P2.5, and reaches maximal adult levels by P10.5. Results from these experiments indicate that Nr2e3 message is expressed prior to the development of S-cones. This data coincides with studies in humans showing that mutations in Nr2e3 result in a unique type of retinal degeneration known as enhanced S-cone syndrome, where patients have a 30-fold increase in S-cone sensitivity compared to normal. Immunohistochemical staining of cone cells demonstrates that rd7 retinas have an increased number of cone cells compared to wild-type retinas. Thus, Nr2e3 may function by regulating genes involved in cone cell proliferation, and mutations in this gene lead to retinal dysplasia and degeneration by disrupting normal photoreceptor cell topography as well as cell-cell interactions.
Animals↗