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PubMed2004

Absence of SIX6 mutations in microphthalmia, anophthalmia, and coloboma.

PURPOSE: To investigate whether 173 patients with microphthalmia, anophthalmia, and coloboma have mutations in the eye-development gene SIX6. METHODS: The two exons of the SIX6 gene were amplified by PCR from patients' genomic DNA and directly sequenced to search for mutations. The PCR products of 75 patients were also analyzed by denaturing high-performance liquid chromatography (DHPLC). RESULTS: Six SIX6 polymorphisms were identified in the patient panel. Three of these polymorphisms change the encoded amino acid. However, all six polymorphisms were also identified in unaffected individuals. There was no statistically significant difference in genotypes between patients and control subjects. CONCLUSIONS: No evidence was found that SIX6 mutations underlie human congenital structural eye malformations.

Adult↗
PubMedDate not supplied

Temporal bone findings in hemifacial microsomia.

The temporal bone findings in a case of hemifacial microsomia are described with photographs. The right facial hypoplasia was associated with anophthalmia and microtia on the same side. The right petrous bone was hypoplastic and showed total superior dehiscence of the internal acoustic meatus. Th otic capsule was deformed with an underdeveloped cochlear modiolus grossly deficient in spiral ganglion population. The spiralling cochlear shell showed partial deficiency of the interscalar septum between the middle and apical coils. The cochlear duct was shorter than that on the normal side; the organ of Corti however was normal. The vestibular system did not show any structural abnormality except for the degeneration and reduction of the Scarpa's ganglion cells and nerve fibers. An additional interesting fact was that the facial nerve was totally absent in the temporal bone except for its nervus intermedius component.

Abnormalities, Multiple↗
PubMedDate not supplied

Anophthalmia in litters of female rats treated with the food-derived carcinogen, 2-amino-1-methyl-6-phenylimidazo[4,5-b]pyridine.

Anophthalmia in litters of pregnant rats treated with 2-amino-1-methyl-6-phenylimidazo[4,5-b]pyridine (PhIP), a food-derived carcinogen, was incidentally encountered in a risk-assessment study with 2-generation exposure to PhIP. Female Fischer 344 animals were given 200 ppm PhIP in the diet for 4 wk before mating with nontreated males and also during gestation and lactation periods. Mean numbers of newborn rats per litter in control and PhIP-treated groups were 7.9 +/- 2.9 and 7.1 +/- 1.6 in trial 1 and 8.3 +/- 1.9 and 6.1 +/- 2.4 in trial 2. Among 49 (trial 1) and 63 (trial 2) offspring from PhIP-treated dams, 9 (18.4%) and 32 (50.8%) demonstrated anophthalmia, and 1 (2.0%) and 8 (12.7%) demonstrated hydrocephaly. Five of 7 (71.4%) and 13 of 14 (92.9%) dams delivered pups with malformations in trials 1 and 2, respectively. Also, in a previous study that was carried out with the same protocol and that used the Sprague-Dawley strain of rats, anophthalmia and hydrocephaly were observed in 2 and 1 out of 175 pups, respectively, from 100 ppm PhIP-treated dams. No congenital malformations were found in control groups of the same size in either experiment. In addition to having been previously identified as a cause of carcinogenic activity, our findings suggest that PhIP is capable of causing anophthalmia in rats when administered during the gestational period.

Animals↗
PubMed1983

Tourette's syndrome and anophthalmia in a girl: complex differential diagnosis.

This is a report of a 15 year old girl with anophthalmia who met the DSM-III criteria for Tourette's Syndrome (TS). The case presented a complex differential diagnosis with previous diagnoses of behaviour disorder and schizophrenia, complicated by the issues of blindness, pharmacological, and environmental factors. Once the diagnosis was made, and due to intricate biopsychosocial interactions, a comprehensive treatment approach was adopted with good results. The authors comment on the non-existence of studies about the incidence of TS in blind children and recommend the discrimination between the motor behaviour of the tic disorder versus mannerisms associated with blindness. Thus a reasonable degree of suspicion is warranted in the treatment of blind children with severe behavioural disturbances.

Adolescent↗
PubMedDate not supplied

Coralline hydroxyapatite sphere in orbit restoration.

PURPOSE: To restore the anophthalmic socket, primarily or secondarily, using a hydroxy-apatite sphere (HA). METHODS: We used HA in 33 patients (25 male, 8 female), aged from 4 to 68 years (mean 38.1 years) for 19 primary and 14 secondary implantations. HA spheres measured 16 mm in one patient, 18 mm in 21 and 20 mm in 11. The spheres were wrapped in donor sclera preserved in absolute alcohol. All six extraocular muscles were isolated, in the cases where this was possible. Buccal membrane was grafted in three patients to restore the fornices. Drilling was done on four patients using a 3.8 serrated plastic sheath. RESULTS: During follow-up of 7-69 months we observed no complications except for slight edema in the immediate postoperative period. All patients gained very good to excellent motility of the implant, acceptable symmetric appearance in the case of primary implantation, and a dramatic improvement of facial appearance in the case of secondary implantation. CONCLUSIONS: HA spheres are an excellent orbital implant for primary and secondary restoration of the anophthalmic socket causing no serious complications.

Adolescent↗
PubMed2004

The phosphatidylserine receptor has essential functions during embryogenesis but not in apoptotic cell removal.

BACKGROUND: Phagocytosis of apoptotic cells is fundamental to animal development, immune function and cellular homeostasis. The phosphatidylserine receptor (Ptdsr) on phagocytes has been implicated in the recognition and engulfment of apoptotic cells and in anti-inflammatory signaling. To determine the biological function of the phosphatidylserine receptor in vivo, we inactivated the Ptdsr gene in the mouse. RESULTS: Ablation of Ptdsr function in mice causes perinatal lethality, growth retardation and a delay in terminal differentiation of the kidney, intestine, liver and lungs during embryogenesis. Moreover, eye development can be severely disturbed, ranging from defects in retinal differentiation to complete unilateral or bilateral absence of eyes. Ptdsr -/- mice with anophthalmia develop novel lesions, with induction of ectopic retinal-pigmented epithelium in nasal cavities. A comprehensive investigation of apoptotic cell clearance in vivo and in vitro demonstrated that engulfment of apoptotic cells was normal in Ptdsr knockout mice, but Ptdsr-deficient macrophages were impaired in pro- and anti-inflammatory cytokine signaling after stimulation with apoptotic cells or with lipopolysaccharide. CONCLUSION: Ptdsr is essential for the development and differentiation of multiple organs during embryogenesis but not for apoptotic cell removal. Ptdsr may thus have a novel, unexpected developmental function as an important differentiation-promoting gene. Moreover, Ptdsr is not required for apoptotic cell clearance by macrophages but seems to be necessary for the regulation of macrophage cytokine responses. These results clearly contradict the current view that the phosphatidylserine receptor primarily functions in apoptotic cell clearance.

Animals↗
PubMed1979

Congenital abnormalities induced by heterologous antisera directed against rat kidney glycoproteins isolated by concanavalin A affinity chromatography.

It has been well established that heterologous antisera against whole rat kidney homogenate when injected into pregnant rats during the embryonic organogenetic period may induce abnormal embryonic development. Attempts were made to isolate the active components from soluble rat kidney extract by ammonium sulfate precipitation, anion-exchange chromatography, and concanavalin A-Sepharose 4B affinity chromatography. The glycoproteins isolated were capable of stimulating the production of potent rabbit antisera. When injected ip into the 9th day pregnant rats, these antisera induced embryonic death, congenital abnormalities, and fetal growth retardation. Eighty-four surviving fetuses were examined, all of them were malformed. The most frequently observed congenital defects were anophthalmia and microphthalmia. Attempts were made to analyze the glycoprotein fraction by discontinuous and sodium dodecyl sulfate (SDS)-polyacrylamide gel electrophoresis. The results indicate that the glycoproteins were of high molecular weight and could be dissociated by SDS into a multitude of molecules or subunits. Although double immunodiffusion indicated that there were one major and two minor antigens in the glycoprotein fraction, attempts to identify the antigens as to their size by analytical gel electrophoresis have not been successful. Electron microscopic study seemed to suggest that the glycoproteins might tend to aggregate to form particulates. The underlying mechanism whereby the antisera to these glycoproteins induce abnormal embryonic development is not understood. The hypotheses to explain the possible sites of teratogenic antibody interaction are discussed.

Animals↗
PubMed1980

Determining role of the optic vesicle in orbital and periocular development and placement.

Nine patients with aberrations in development and placement of the eyes and periocular structures who also had serious defects in central nervous system development were evaluated in order to better understand normal ocular development. Included were an incompletely developed twin stillborn infant who lacked both eyes and the nose, a stillborn infant with cyclopia hypognathia, 6 spontaneous abortuses with varying degrees of holoprosencephaly, and a 17-year-old male with a serious defect in central nervous system development whose right eye was positioned laterally above the right ear. In all cases, evidence indicates that orbital and periocular structures are determined by the underlying optic vesicle rather than independently derived as has been suggested by previous studies.

Abnormalities, Severe Teratoid↗
PubMed1983

Antiserum to rat visceral yolk sac endoderm induced abnormal embryonic development.

The induction of abnormal embryonic development by heterologous tissue antisera has been well established. The underlying mechanism whereby such teratogenesis occurs is not known. There were implications that visceral yolk sac endoderm might be involved. Endoderm was isolated from rat visceral yolk sac of 14th day of gestation using a nonenzymic procedure. The purity of the endoderm preparation was examined by electron microscopy. The preparation contained sheets of single layer of endodermal cells with no apparent contamination by the underlying mesenchyme or basal lamina. The specificity of the antiserum was examined by in vitro immunofluorescent localization studies. The antibodies against the endoderm localized only in the endodermal cells and some of the renal tubular cells. Intraperitoneal injection of the endoderm antiserum into 9-day pregnant rats resulted in congenital malformation, embryonic death, and fetal growth retardation. The effects of the antiserum were dose-dependent. The most frequently observed defects were anophthalmia and microphthalmia. Retarding effect of the antiserum on the growth of the embryo at the egg cylinder stage was also observed. In vivo immunofluorescent localization studies indicated that the endoderm antibodies localized only in the endodermal cells of the visceral yolk sac placenta; no localization was observed in the visceral yolk sac mesenchyme, basal lamina. Reichert's membrane, maternal kidney tissue or the embryo proper.

Animals↗
PubMed1975

Comparsion of hydroxyindole-O-methyltransferse levels in pineal glands of normal, blinded, and congenitally anophthalmic guiena pigs.

The level of pineal hydroxyindole-O-methyltransferase activity was measured in normal sighted, normal blinded, and congenitally anophthalmic guinea pigs at 1100-1200 and 2300-2400 h. Significant day-night differences were found in the normal sighted and normal blinded guinea pigs; however, the levels were markedly elevated in the normal blinded guinea pigs. The congenitally anophthalmic guinea pigs did not demonstrate a difference between day and night activities. Both the day and night levels of hydroxyindole-O-methyltransferase activities in the latter animals were slightly less than the low daytime levels for the normal, sighted guinea pigs.

Acetylserotonin O-Methyltransferase↗
PubMed1987

Effects of zinc deficiency on morphogenesis of the fetal rat eye.

Maternal zinc deficiency during pregnancy results in a high frequency of fetal eye malformations in the Long-Evans rat. In this study we examine the development of the eye from days 12 through 21 of gestation in conceptuses of dams fed deficient or adequate levels of zinc and also examine maternal plasma and conceptus zinc concentrations during this period. Dams were fed diets containing 0.5 (0.5 Zn group), 4.5 (4.5 Zn group), or 100 (100 Zn AL group) micrograms zinc per gram diet ad libitum, or 100 micrograms zinc g-1 diet in amounts restricted on a daily basis to the intake of matched animals from the 0.5 Zn group (100 Zn RI group). Conceptuses were removed and maternal plasma was collected on days 12, 14, 16, 19 and 21 of gestation. Maternal plasma and conceptus zinc concentrations reflected maternal dietary zinc level, with dam plasma Zn concentrations in the order of 0.5 Zn group less than 4.5 Zn group less than 100 Zn group on all days. A similar pattern held for embryo/fetus zinc, except for days 19 and 21, at which times the 0.5 Zn and 4.5 Zn fetuses had similar zinc concentrations. Histological examination of the developing eye of 0.5 Zn fetuses on days 12 and 14 revealed that invagination of the optic cup was often deficient, and that closure of the choroid fissure did not occur, resulting in colobomata and retinal folding visible at term. A very few fetuses were found at term to be anophthalmic or have only remnants of ocular tissue.(ABSTRACT TRUNCATED AT 250 WORDS)

Animals↗
PubMed1994

Unilateral anophthalmia in a Holstein calf.

Unilateral anophthalmia in a Holstein calf was examined morphologically. On the left side, a small cystic remnant of the eye ball (CRE) was present in the orbit. The CRE was adhered to the dura mater through an abnormal foramen formed in the orbital region of the cranial base. At this region of the left cerebral hemisphere, a porencephalic change was detected. Histologically, the pigment epithelium was continued from the lining of the inner surface of CRE to the residual cerebrocortical tissue attached to the dura mater. These characteristic changes seem to suggest the partial fusion of the outer layer of the optic cup to the telencephalon during optic organogenesis.

Animals↗
PubMed1995

Congenital anophthalmia with caudal vertebral anomalies in Japanese Brown cattle.

Anophthalmia and caudal vertebral anomalies such as taillessness or wry tail were morphologically examined in ten Japanese Brown calves obtained in Kumamoto Prefecture. The anomalous calves lacked eyeball bilaterally or unilaterally but had small-sized eyelids and narrow palpebral fissures. A small cystic, solid or spot-like remnant of eyeball (REB) was buried in the mixture of vestigial extraocular muscles, lacrimal gland and adipose tissue of the orbit. The REB was composed of irregularly arranged elements of ocular wall such as sclera, choroid and retina. The retina was often dysplastic and connected to the hypoplastic optic nerve. These morphological changes might represent the defective processes after the formation of the optic vesicle or cup. Therefore, this eye defect may be defined as degenerative anophthalmia. The defects of the vertebral body such as wedge vertebra, hemivertebra, and sagittal cleft vertebra seen in the lumbar, sacral, and coccygial regions and the meandering of the axial line of abnormal vertebrae may suggest the failure of notochord formation in the early fetal period. From the embryological point of view, it seemed possible that the calves were exposed to teratogen at the critical time of optic organogenesis and notochordal formation. The cause of anomalies could not be determined in this study.

Animals↗
PubMed1998

A comparison of the in vivo and in vitro response of rat embryos to 5-fluorouracil.

This study serves to further define the capabilities of the whole embryo culture system using the well-known teratogen, 5-fluorouracil (5-FU), an antineoplastic agent. An initial in vivo study was performed whereby pregnant rats were injected intraperitoneally with 10-30 mg/kg 5-FU on day 9 of gestation. On day 20 of gestation, the effects of this drug on the growth and development of embryos were evaluated. The number of externally malformed fetuses increased in a dose-related manner, and the most common defect was micro-/anophthalmos in fetuses of dams treated with 5-FU. Growth retardation was also noted in the 5-FU treated groups. An in vitro study was performed in which drug concentrations were varied (0.15-0.30 microg/ml). Externally abnormal embryos were observed in whole embryo culture system from embryonic day 9 to 11. The most common defect was hypoplastic optic vesicles. In the whole embryo culture system, crown-rump length, somite number, protein contents, and morphological score were decreased in a dose-dependent fashion. Finally, histological evaluation and observation of the pattern of cell death of the optic vesicle of 11-day-old embryos in in vivo and in vitro were performed. These parameters revealed no differences in response between in vivo and in vitro embryos treated with 5-FU, suggesting that the whole embryo culture system was an appropriate model for developmental toxicity studies of 5-FU.

Abnormalities, Drug-Induced↗
PubMed2000

Anophthalmia and retinal degeneration associated with stenosis of the optic foramen in Fischer 344 rats.

Bilateral anophthalmia was discovered in a male rat (No. 1) and unilateral anophthalmia was found in the left eye of two female rats (Nos. 2 and 3) derived from a Fischer 344 inbred colony. One male rat (No. 4), a littermate of No. 3, had externally normal eyes, but his left eye had severe retinal atrophy, which was detected by ophthalmoscopy. The eyelids in both eyes of No. 1 and in the left eyes of Nos. 2 and 3 were present. Radiography of the skull revealed small optic foramina on both sides of No. 1 and on the affected side of Nos. 2, 3, and 4. Histologically, both globes and optic nerves (ONs) of No. 1 and the left globe and ONs of Nos. 2 and 3 were completely missing. Diffuse retinal degeneration in the left globe and axonal degeneration in the left ON and the right optic tract were observed in No. 4. Dysplasia of the sphenoid bone associated with stenosis of the optic foramen was detected on the affected side of all rats. Thus, ON aplasia in anophthalmic rats and atrophic ON in a rat with retinal degeneration seem to be closely related to stenosis of the optic foramen.

Animals↗