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PubMed2003

[Congenital clinical anophthalmia and blind microphthalmia].

Congenital anophthalmia and blind microphthalmia are very rare conditions and there is no standard treatment available. Various previously reported therapeutical concepts are reviewed. The clinical picture can be divided into three subgroups with different therapeutical options recommended: in microphthalmia the conjunctival sac size is usually normal or slightly decreased. The use of non-expandable conformers is possible with good results. Patients treated with hydrogel expanders can wear a prosthesis earlier and with better cosmetic results. In congenital anophthalmia the conjunctival sac is very small and contracted and patients cannot wear a prosthesis or even a conformer. Hydrogel expander treatment--first for the conjunctival sac and second for the orbit--is the therapeutical option which may lead to good cosmetic results. Children >5 years of age and/or unsuccessful pre-treated cases may benefit from osteotomy to reduce mid-face asymmetry. To attain the main therapeutical goal in this subgroup, the ability to fit a normal prosthesis, a combination of different techniques like hydrogel expanders, dermis fat graft, lid surgery etc. may be necessary.

Anophthalmos↗
PubMed2003

A case of angle-closure glaucoma, cataract, nanophthalmos and spherophakia in oculo-dento-digital syndrome.

BACKGROUND: We report a new case of oculo-dento-digital syndrome. METHODS: Case report. RESULTS: We saw a 34-year-old women with oculo-dento-digital syndrome. Visual acuity was no perception of light (RE) and 1/35 (LE). Biomicroscopy revealed a flat anterior chamber and an advanced cataract. The intraocular pressure (IOP) was 60 mmHg in both eyes. Ultrasonographic biomicroscopy demonstrated a closed chamber angle in both eyes. Measurements of the axial length and of the diameter of the lens were 18.7 mm/6.0 mm for the RE and 18.7 mm/5.8 mm for the LE respectively. In the time following we conducted a cyclodestructive procedure in the RE and a cataract extraction with implantation of an intraocular lens in the LE. This led to a considerable reduction of the IOP in the RE and combined with local therapy to IOP regulation in the LE. CONCLUSION: In this patient nanophthalmos, cataract and spherophakia led to angle-closure glaucoma in both eyes. We recommend early monitoring of IOP, axial length and lens diameter. This case demonstrates that an early cataract extraction might beneficially influence the natural course of the disease.

Abnormalities, Multiple↗
PubMed2006

Bilateral nanophthalmos and pigmentary retinal dystrophy--an unusual syndrome.

BACKGROUND: To report the clinical picture of the rare association of nanophthalmos and pigmentary retinal dystrophy and its cataract surgery outcome. METHODS: We report a case of a 60-year-old female who presented with bilateral slowly progressive visual loss. RESULTS: The patient presented with bilateral light perception visual acuity, exotropia, brunescent cataract hindering fundus examination and hypodontia. Ultrasonography revealed bilateral nanophthalmos. A visual-evoked potential was also performed preoperatively. Cataract surgery with +40D IOL implantation was uneventful. Postoperative fundus examination revealed pigmentary retinal dystrophy, confirmed by electrophysiologic tests. Glycosaminoglycan urinary excretion was normal. CONCLUSIONS: Congenital bilateral nanophthalmos may rarely be associated with pigmentary retinal dystrophy. We suggest thorough preoperative evaluation in nanophthalmic eyes for the exclusion of significant features concerning visual prognosis.

Evoked Potentials, Visual↗
PubMed2006

Scleral window surgery and topical mitomycin C for nanophthalmic uveal effusion complicated by renal failure: case report.

PURPOSE: To describe the case of a 16-year-old patient with nanophthalmic uveal effusion associated with renal failure that was treated with scleral window surgery and topical administration of mitomycin C (MMC). METHODS: Case report. RESULTS: Total uveal effusion was restored in the nanophthalmic eyes. Partial-thickness scleral flap with deep sclerostomy was performed and topical MMC was administered to one quadrant of the equatorial sclera. The subretinal fluid resorbed gradually. CONCLUSIONS: Topical MMC might relieve the blocked transscleral outflow of intraocular fluid in the small area of a sclerostomy in young patients with nanophthalmos or in patients with renal failure in whom uveal effusion occurs repeatedly.

Administration, Topical↗
PubMed2000

Primitive neuroectodermal tumor of the orbit in a 5-year-old girl with microphthalmia.

PURPOSE: To report an orbital, intraconal, primitive neuroectodermal tumor (PNET) in a 5-year-old child with microphthalmia since birth. METHODS: Orbitotomy was performed and a large, polycystic, retroscleral, intraconal tumor was removed and subsequent histological, immunohistochemical and electron-microscopic analyses of the excised mass were performed. RESULTS: The tumor showed characteristic features of peripheral primitive neuroectodermal tumor including pseudorosettes, positive immunohistochemical reactions for the MIC2 gene and synaptophysin and ultrastructural finding of neurosecretory granules. CONCLUSION: This case is the first reported intraconal PNET of the orbit, and the first orbital case that expresses the MIC2 gene. In spite of the aggressive malignant features of peripheral PNET, the orbital variety seems to be the least aggressive since most of the reported patients are still alive.

Biopsy↗
PubMed2006

Maternal vitamin A deficiency and neonatal microphthalmia: complications of biliopancreatic diversion?

Biliopancreatic diversion (BPD) for morbid obesity carries a serious risk of nutritional deficiencies that might impair embryogenesis. Consequently, attention should be given to the potential of risk to the fetus of BPD in women of childbearing age. We present the case of a pregnant woman who had undergone BPD 8 years previously, with documented vitamin A deficiency, who gave birth to a child with bilateral microphthalmia. Infectious and genetic causes of microphthalmia were excluded. A search of the literature revealed that vitamin A deficiency may cause a disruption of ocular development. We conclude that nutritional deficiencies may cause a spectrum of fetal malformations. As the effect of BPD relies on malabsorption, fetal risk should be considered before BPD is offered to morbid obese women of childbearing age.

Adult↗
PubMed2004

CHX10 mutations cause non-syndromic microphthalmia/ anophthalmia in Arab and Jewish kindreds.

Microphthalmia/anophthalmia is a clinically heterogeneous disorder of eye formation, ranging from small size of a single eye to complete bilateral absence of ocular tissues. The genetic defect underlying isolated autosomal recessive microphthalmia/anophthalmia is yet unclear. We studied four families (two of Arab origin, one of Bedouin origin, and one of Persian-Jewish origin) with autosomal recessive microphthalmia/anophthalmia and no associated eye anomalies, and one Syrian-Jewish family with associated colobomas. Assuming a founder effect in each of the families, we performed homozygosity mapping using polymorphic markers adjacent to human homologues of genes known to be associated with eye absence in various species, namely EYA1, EYA2, EYA3, SIX4, SIX6, PAX6 and CHX10. No association was found with EYA1, EYA2, EYA3, SIX6 or PAX6. In two families, linkage analysis was consistent with possible association with SIX4, but no mutations were found in the coding region of the gene or its flanking intron sequences. In three of the five families, linkage analysis followed by sequencing demonstrated that affected individuals in each family were homozygous for a different CHX10 aberration: a mutation in the CVC domain and a deletion of the homeobox domain were found in two Arab families, and a mutation in the donor-acceptor site in the first intron in the Syrian-Jewish family. There was phenotypic variation between families having different mutations, but no significant phenotypic variation within each family. It has been previously shown that mutations in a particular nucleotide in CHX10 are associated with an autosomal recessive syndrome of microphthalmia/anophthalmia with iris colobomas and cataracts in two families. We now show that different mutations in other domains of the same gene underlie isolated microphthalmia/anophthalmia.

Arabs↗
PubMed1998

Microphthalmia with linear skin defects syndrome in a mosaic female infant with monosomy for the Xp22 region: molecular analysis of the Xp22 breakpoint and the X-inactivation pattern.

This paper describes a female infant with microphthalmia with linear skin defects syndrome (MLS) and monosomy for the Xp22 region. Her clinical features included right microphthalmia and sclerocornea, left corneal opacity, linear red rash and scar-like skin lesion on the nose and cheeks, and absence of the corpus callosum. Cytogenetic studies revealed a 45,X[18]/46,X,r(X)(p22q21) [24]/46,X,del(X)(p22)[58] karyotype. Fluorescence in situ hybridization analysis showed that the ring X chromosome was positive for DXZ1 and XIST and negative for the Xp and Xq telomeric regions, whereas the deleted X chromosome was positive for DXZI, XIST, and the Xq telomeric region and negative for the Xp telomeric region. Microsatellite analysis for 19 loci at the X-differential region of Xp22 disclosed monosomy for Xp22 involving the critical region for the MLS gene, with the breakpoint between DXS1053 and DXS418. X-inactivation analysis for the methylation status of the PGK gene indicated the presence of inactive normal X chromosomes. The Xp22 deletion of our patient is the largest in MLS patients with molecularly defined Xp22 monosomy. Nevertheless, the result of X-inactivation analysis implies that the normal X chromosomes in the 46,X,del(X)(p22) cell lineage were more or less subject to X-inactivation, because normal X chromosomes in the 45,X and 46,X,r(X)(p22q21) cell lineages are unlikely to undergo X-inactivation. This supports the notion that functional absence of the MLS gene caused by inactivation of the normal X chromosome plays a pivotal role in the development of MLS in patients with Xp22 monosomy.

Chromosome Mapping↗
PubMed1999

Exclusion of RAI2 as the causative gene for Nance-Horan syndrome.

Nance-Horan syndrome (NHS) is an X-linked condition characterised by congenital cataracts, microphthalmia and/or microcornea, unusual dental morphology, dysmorphic facial features, and developmental delay in some cases. Recent linkage studies have mapped the NHS disease gene to a 3.5-cM interval on Xp22.2 between DXS1053 and DXS443. We previously identified a human homologue of a mouse retinoic-acid-induced gene (RAI2) within the NHS critical flanking interval and have tested the gene as a candidate for Nance-Horan syndrome in nine NHS-affected families. Direct sequencing of the RAI2 gene and predicted promoter region has revealed no mutations in the families screened; RAI2 is therefore unlikely to be associated with NHS.

Abnormalities, Multiple↗
PubMed1999

Another observation of microphthalmia in an XX male: microphthalmia with linear skin defects syndrome without linear skin lesions.

A case of microphthalmia with Xp microdeletion is reported. The patient was a boy who showed bilateral microphthalmia with corneal opacities, hypospadias without evidence of hypogonadism, and a conduction disturbance of the heart (Wenckebach conduction). No skin lesion was discerned. High-resolution chromosome analysis revealed the karyotype of 46,X,del(X)(p22). The phenotype was considered to be microphthalmia with linear skin defects (MLS) syndrome without skin lesions. Polymerase chain reaction and fluorescence in-situ hybridization analyses revealed that the chromosome aberration resulted from an X;Y translocation: the presence of pseudoautosomal boundary Y and the sex-determining region of Y was confirmed, while Xp deletion involving the region distal to DXS1129 was ascertained. Thus the chromosome designation using the ISCN 1995 nomenclature is 46,X,der(X),t(X;Y)(p22.13;q11.2). Despite the absence of skin lesions, the Xp deletion of our patient corresponded to those of previously reported typical cases of MLS syndrome. Our observation further supports the current hypothesis that the phenotypic variation of MLS syndrome represents tissue-different X inactivation rather than different genetic effects of two contiguous genes.

Chromosome Deletion↗
PubMed2005

The epidemiology of anophthalmia and microphthalmia in Sweden.

Infants with a clinical diagnosis of anophthalmia or microphthalmia were identified from four health registers in Sweden, covering different parts of the period 1965-2001. During the observation period, the rate of anophthalmia decreased from the early 1970s from 0.4 to 0.2 per 10,000 births. The registered rate of microphthalmia increased markedly during the observation period to reach a maximum in 1987 of about 1.5 per 10,000. About 10% of the 432 identified children had a chromosome anomaly. There was no geographical variation in prevalence and infants born in urban or rural districts had, if anything, a lower risk than infants born in cities (0.93 and 1.13 per 10,000, respectively). Non-eye malformations were more common at anophthalmia (63%) than at microphthalmia (30%). Sex ratio was normal and no statistically significant variation between sub-groups (anophthalmia, microphthalmia, isolated, associated with non-eye malformations) could be demonstrated. There was a marked risk increase with maternal age but no certain parity effect, no effect of maternal education, but a possible association with subfertility. Maternal smoking in early pregnancy seemed to increase the risk for anophthalmia or microphthalmia in the absence of a coloboma.

Adult↗
PubMed2005

A population-based case-control study of isolated anophthalmia and microphthalmia.

The purpose of the study was to reveal the etiological factors in the origin of isolated an/microphthalmia. The dataset of the Hungarian Case-Control Surveillance of Congenital Abnormalities, 1980-2002 containing 56 cases with isolated an/microphthalmia and 22,744 malformed controls with other non-ocular defects from the Hungarian Congenital Abnormality Registry, in addition of 56 matched control pairs and 37,837 population controls without defects from the National Birth Registry, was evaluated. Exposure data and family history were collected (i) prospectively by prenatal logbook and other medical records, (ii) retrospectively through a structured questionnaire filled-in by mothers, and (iii) information obtained by regional nurses at home visit of non-respondent mothers. The autosomal recessive origin of isolated an/microphthalmia was indicated in about 10% of cases on the basis of sib recurrence. Cases with isolated an/microphthalmia had a much shorter mean gestational age and smaller mean birth weight, a much larger proportion of preterm birth and low birthweight. Their mothers were younger with a predominance of first birth order, frequently unmarried with low socioeconomic status. These findings are in agreement with a much higher prevalence at birth of cases with isolated an/microphthalmia in the gypsy population probably due to the interaction of inbreeding effect and low socioeconomic status. Further molecular genetic studies are needed to identify gene mutations of isolated an/microphthalmia in the Hungarian gypsy population.

Anophthalmos↗
PubMed1985

Unusual cause of short stature.

A 24-year-old man evaluated for paresthesias and short stature was found to be hypocalcemic on initial presentation. Further evaluation showed that he had a low-normal parathormone level by amino-terminal assay, medullary stenosis of the long bones, and multiple ophthalmologic abnormalities. The remainder of his pituitary function, including growth hormone response to insulin-induced hypoglycemia, was normal. As no family history of similar findings was evident, a sporadic case of Kenny's or Kenny-Caffey syndrome was diagnosed. He became normocalcemic in response to vitamin D and calcium carbonate therapy. The results of testing in this patient and the findings in other patients previously described with the Kenny-Caffey syndrome are reviewed.

Adult↗