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PubMed2005

A family with X-linked anophthalmia: exclusion of SOX3 as a candidate gene.

We report on a four-generation family with X-linked anophthalmia in four affected males and show that this family has LOD scores consistent with linkage to Xq27, the third family reported to be linked to the ANOP1 locus. We sequenced the SOX3 gene at Xq27 as a candidate gene for the X-linked anophthalmia based on the high homology of this gene to SOX2, a gene previously mutated in bilateral anophthlamia. However, no amino acid sequence alterations were identified in SOX3. We have improved the definition of the phenotype in males with anophthalmia linked to the ANOP1 locus, as microcephaly, ocular colobomas, and severe renal malformations have not been described in families linked to ANOP1.

Adult↗
PubMed2006

Deletion at 14q22-23 indicates a contiguous gene syndrome comprising anophthalmia, pituitary hypoplasia, and ear anomalies.

Anophthalmia and pituitary gland hypoplasia are both debilitating conditions where the underlying genetic defect is unknown in the majority of cases. We identified a patient with bilateral anophthalmia and absence of the optic nerves, chiasm and tracts, as well as pituitary gland hypoplasia and ear anomalies with a de novo apparently balanced chromosomal translocation, 46,XY,t(3;14)(q28;q23.2). Translocation breakpoint analysis using FISH and high-resolution microarray comparative genomic hybridization (CGH) has identified a 9.66 Mb deleted region on the long arm of chromosome 14 which includes the genes BMP4, OTX2, RTN1, SIX6, SIX1, and SIX4. Three other patients with interstitial deletions involving 14q22-23 have been described, all with bilateral anophthalmia, pituitary abnormalities, ear anomalies, and a facial phenotype similar to our patient. OTX2 is involved in ocular developmental defects, and the severity of the ocular phenotype in our patient and the other 14q22-23 deletion patients, suggests this genomic region harbors other gene/s involved in ocular development. BMP4 haploinsufficiency is predicted to contribute to the ocular phenotype on the basis of its expression pattern and observed murine mutant phenotypes. In addition, deletion of BMP4 and SIX6 is likely to contribute to the abnormal pituitary development, and SIX1 deletion may contribute to the ear and other craniofacial features. This indicates that contiguous gene deletion may contribute to the phenotypic features in the 14q22-23 deletion patients.

Abnormalities, Multiple↗
PubMed2006

GLI2 mutations in four Brazilian patients: how wide is the phenotypic spectrum?

We report four patients with GLI2 mutations together with their associated phenotypes: (1) holoprosencephaly-like phenotype, (2) anophthalmia, branchial arch anomalies, and CNS abnormalities, (3) heminasal aplasia and orbital anomalies, and (4) lobar holoprosencephaly. This diversity of phenotypes expands our understanding. Findings include not only (1) holoprosencephaly or a holoprosencephaly-like phenotype, but also (2) heminasal aplasia with orbital anomalies, and (3) branchial arch anomalies of the type seen in hemifacial microsomia with anophthalmia and in oculoauriculofrontonasal syndrome. Finally, this is the first report of a double mutation involving GLI2 and PTCH in the same patient.

Abnormalities, Multiple↗
PubMed2006

Anophthalmia-esophageal atresia syndrome caused by an SOX2 gene deletion in monozygotic twin brothers with markedly discordant phenotypes.

The clinical combination of anophthalmia/microphthalmia and esophageal atresia was first recognized in 1988 as a distinct variable multi-system malformation syndrome and since then at least 17 cases of the disease have been described, all of them sporadic in occurrence. We report a heterozygous SOX2 gene mutation underlying the syndrome of anophthalmia/microphthalmia-esophageal atresia and demonstrate that this entity can be associated to considerable clinical variability as shown by the discordant ocular phenotype observed in monozygotic twin brothers carrying an SOX2 deletion. This is the first report describing a strikingly discordant eye phenotype in monozygotic twins with the condition, with one of our patients being the first reported individual carrying an SOX2 lesion associated with unilateral eye defect. We discuss the probable sources for this remarkable phenotypic heterogeneity of the anophthalmia/microphthalmia syndrome in individuals with an identical genetic constitution.

Anophthalmos↗
PubMed2007

Anophthalmia-plus syndrome: a clinical report and review of the literature.

We describe a term male infant of healthy non-consanguineous parents, born with congenital malformations, including bilateral cleft palate and lip, mild microphthalmia with iris coloboma and glaucoma of the right eye, and blepharophimosis with severe microphthalmia of the left eye. Spine radiograph and MRI showed first sacral hemivertebra with spina bifida, and agenesis of the 2nd, 3rd, 4th, and 5th sacral vertebrae and coccyx. Spine MRI showed caudal tethering of spinal cord at L(3) level, filum terminalis lipoma and a syringomyelia. Brain ultrasound and MRI showed hypoplasia of corpus callosum with mild dilatation of the lateral ventricles. Orbital MRI showed bilateral microphthalmia-distorted small left eyeball with posteriorly located lens, and a split vitreous body in the right eye, suggestive of primary hyperplastic vitreous. The karyotype was normal. Summary of the findings in nine cases (our case and eight published cases) support the notion that anophthalmia-plus syndrome (APS) is a distinct syndrome. Gene locus of APS is yet to be identified.

Abnormalities, Multiple↗
PubMed1981

The oculomotor nucleus and extraocular muscles in a mutant anophthalmic mouse.

The object of this study was to determine whether the oculomotor nucleus and the extraocular muscles are present in the adult of a mutant mouse strain in which eye formation fails early in development (Chase and Chase, '41). Neuronal counts for the oculomotor (IIIrd) nucleus were obtained from serial paraffin sections made through the midbrains of seven mice of the anophthalmic mutant group (ZRDCT-An) and seven mice of the same strain in which eyes were present (ZRDCT-N). The orbital structures of the anophthalmic and control groups were reconstructed from 1-micrometer plastic serial sections. There was in the anophthalmic mouse, in the same location as in the normal, an oculomotor nucleus whose mean neuronal cell number was 206 (+/- 40). The normal mouse had a mean value of 262 (+/- 63) oculomotor neurons. On the basis of these results, this difference between the two groups was not statistically significant (P = 0.073). The neuronal number per cubic millimeter was similar in the two groups (P = 0.81). In the orbit of the anophthalmic mouse, several bundles of striated muscle occupied a location comparable to that of extraocular muscle in the normal mouse. Neuromuscular junctions were present on fibers of this orbital muscle. It is concluded that the early failure of eye formation does not prevent the development of extraocular muscles and the oculomotor nucleus, and their retention in the adult.

Animals↗
PubMed2006

Descriptive epidemiology of anophthalmia and microphthalmia, Hawaii, 1986-2001.

BACKGROUND: Population-based epidemiologic data on anophthalmia and microphthalmia in the United States are limited and have come mainly from only a few states. The intent of this study was to report on the epidemiology of these eye defects. METHODS: Cases were derived from a population-based birth defects registry in Hawaii and comprised all infants and fetuses with anophthalmia and microphthalmia who were delivered during 1986-2001. Anophthalmia and microphthalmia rates per 10,000 births were determined for selected factors, and comparisons were made by calculating the rate ratios and 95% confidence intervals (CIs). RESULTS: Ninety-six cases of anophthalmia and microphthalmia were identified, with a rate of 3.21 per 10,000 live births. The eye defects were isolated in 5 cases (5.2%), and 24 cases (25.0%) had confirmed chromosomal abnormalities. The risk of anophthalmia and microphthalmia varied over time and was significantly higher for live-born infants with low birth weights and gestational ages. The anophthalmia and microphthalmia rates also varied by maternal race/ethnicity, sex, and plurality, although these differences were not statistically significant. CONCLUSIONS: Anophthalmia and microphthalmia frequently occurred with other birth defects, and the rate was consistent with that found in the literature. The risk of defects differed significantly with time period, birth weight, and gestational age. The impact of many factors on anophthalmia and microphthalmia in Hawaii was frequently consistent with that reported elsewhere.

Abnormalities, Multiple↗
PubMed1977

Abnormal development of the suprachiasmatic nuclei of the hypothalamus in a strain of genetically anophthalmic mice.

In the anophthalmic mutant of the mouse the optic primordia are "genetically enucleated" well before the usual emergence of retinal ganglion cell axons (Silver and Hughes, '74). In eyeless animals, a portion of the mediobasal hypothalamus and one of its constituent nuclear pairs, nucleus suprachiasmaticus (SCN), were markedly abnormal in the embryo and adult. It has been reported that the ventral portion of the SCN receives a substantial, direct retinal innervation (Moore and Lenn, '72) and that these nuclei may mediate several light-induced hormonal and behavioral circadian rhythms (Stetson and Whitmyre, '76). During day 13 of mutant embryogenesis, just prior to the time of optic chiasm formation in normal animals, a large portion of ependyma and adjacent brain tissue herniated into the lumen of the would-be suprachiasmatic region of the third ventricle. In 70% of the animals examined histologically during the latter phase of development and as adults, regulation occurred and the brains were largely comparable with those of controls. However, in the remaining mutant mice, the overall size of either, or sometimse both, SCN was much reduced. The basal (but not the apical) dendrites of SCN neurons failed to develop fully. Some basal dendrites normally invade the optic chiasm below. In several mutant animals one or the other SCN had greatly increased numbers of cells, while the contralateral one had diminished numbers. These observations suggest that regular formation of the suprachiasmatic region of the hypothalamus and especially the suprachiasmatic nuclei, may depend during development upon the presence of the eye or the subjacent optic axons.

Animals↗
PubMed1984

Callosal connections of the posterior neocortex in normal-eyed, congenitally anophthalmic, and neonatally enucleated mice.

Following multiple injections of horseradish peroxidase into the posterior neocortex of one hemisphere, we examined the distribution of retrogradely labeled cells and anterogradely labeled terminations in tangential and coronal sections through contralateral areas 17 and 18 in three groups of adult mice: normal-eyed (ZRDCT-n and C57Bl/6J strains), congenitally anophthalmic (ZRDCT-an strain), neonatally enucleated (ZRDCT-n strain). In agreement with previous studies, we observed that the pattern of callosal connections in areas 17 and 18 of normal-eyed mice contains the following features: (1) a dense band of callosal cells and terminations separating the interiors of areas 17 and 18, which have relatively few callosal connections, (2) a ring-like configuration anterolateral to area 17, (3) a region of dense labeling lateral to area 18, (4) a narrow band of labeling bridging the posterior portion of area 18, and (5) a region of labeling anteromedial to area 17. We find that all these features of the normal callosal pattern are recognizable in congenitally anophthalmic mice. Their presence in mice that never had eyes supports the hypothesis that central visual pathways can develop many aspects of their connectivity in the absence of input from the periphery. However, we also find that the details of certain features of the callosal pattern in congenitally eyeless mice often differ from those of the same features in normal-eyed mice, and that the between-animal variability in the appearance of these features is higher in eyeless mice. These latter findings indicate that the eyes are needed during normal development to fine-tune the pattern of callosal connections. Our results also reveal that the callosal pattern in neonatally enucleated mice does not differ significantly from that in congenitally anophthalmic mice, indicating that the period in which the eyes guide callosal development extends into postnatal life. While the present data do not delineate the time course of this period, the finding of similarly abnormal callosal patterns in congenitally anophthalmic and neonatally enucleated mice suggests that the eyes exert little if any influence prenatally. Finally, examination of coronal sections indicates that the laminar distribution of callosal connections develops normally in both groups of eyeless mice.

Animals↗
PubMed1993

Retinal transplants in congenitally blind mice: patterns of projection and synaptic connectivity.

Embryonic retinae were transplanted onto the midbrain of neonatal congenitally anophthalmic mice and neonatal mice from which both eyes had been removed. When donor mice of the AKR strain were used, the detailed patterns of the transplant projections to the host brain were demonstrated with an antibody to Thy-1.1, which specifically stains neural tissue derived from AKR donors. Many of the subcortical visual centers were innervated, and only small differences were encountered between anophthalmic and eye-enucleated mice. The terminal arbors of transplant-derived axons could not be classified as in normal animals, although several distinct arbor types were seen. In the superior colliculus, the laminar arrangements that characterize normal retinal arbors were disrupted. Despite this, the synaptic patterns formed by transplant-derived axons in the superior colliculus of anophthalmic mice compared very closely with those of retinal axons in normal, sighted animals. These observations indicate that the ability of a retinal transplant to innervate the host brain and to form the synaptic arrays characteristic of optic terminals are not dependent on prior innervation, nor do they appear to be influenced by the events that follow eye removal.

Animals↗
PubMed1981

Concerning the primary defect leading to the pleiotropic effects caused by anophthalmic white (Wh) in the Syrian hamster Mesocricetus auratus.

Ten physiological parameters, controlled by the pituitary-hypothalamic axis, were measured upon males of three genotypes: whwh (cream), Whwh (black eyed white) and WhWh (Anophthalmic white). Univariate analyses of variance comparing data from these hamsters indicated that the gene significantly affects six of these physiological parameters. A principal component and correlation analysis using the multivariate data indicated that of these 10 parameters, six were linearly independent and five were significantly altered by the action of the gene Wh. The results of these analyses and those previously reported suggest that the gene Wh alters the development of the embryonic diencephalon which, in turn, alters the development of the eye and pituitary leading to significant affects on the physiological parameters measured. A new method is described which should, in general, permit the determination of the primary action of a gene in the case of highly pleiotropic mutants.

Analysis of Variance↗
PubMed1981

A histological examination of the pars distalis from the Syrian hamster mutant Anophthalmic white (Wh).

The gene, Wh, causing anophthalmia in the Syrian hamster, Mesocricetus auratus, is a highly pleiotropic gene which has profound effects upon eye development, pigmentation, and reproduction. Hamsters homozygous for this gene also possess abnormalities in testicular size and composition which may be related solely to the lack of the visual pathway acting by means of altered pituitary function. The objective of this study was to determine whether morphological abnormalities existed in hypophyses of male hamsters homozygous for the mutant gene Wh. Accordingly, hypophyses from 10 normal, 10 heterozygous, 10 homozygous mutant, and 5 normal enucleated animals from the AN/As-Wh strain were compared at the light and electron microscopic level. At the light microscopic level, glands from anophthalmic individuals contained 33% fewer cells and many of the cells present either resembled signet ring cells or folliculo stellate cells. At the electron microscopic level, many cells from Wh homozygotes were greatly enlarged, contained only a few organelles and few to no secretory granules. In addition to the glandular cell types, agranular follicular cells were prevalent. Cells with numerous cilia, basal bodies, and a 9 + 2 microtubule configuration were also found within mutant glands. Since pituitaries from hamsters homozygous for Wh displayed far different morphological characteristics than did pituitaries from normal, heterozygous, or normal enucleated animals, it is postulated that either the gene (Wh) acts to alter cellular differentiation of the embryonic hyophysis or that the gene causes abnormal dedifferentiation in the adult.

Analysis of Variance↗