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PubMed1998

[Colobomatous orbital cyst associated with microphthalmos. Apropos of a case].

Colobomatous orbital cyst with microphthalmos is a rare anomaly occurring during embryogenesis. The authors describe a case of colobomatous orbital cyst with microphthalmos in a three-month-old child underlying the difficulties of clinical diagnosis and emphasizing the role of radiologic investigations. It is only the histopathologic study which allows the final diagnosis. From the informations given by this observation, the authors discuss the pathogenic, diagnostic, histopathologic and therapeutic characteristics of this disease.

Coloboma↗
PubMed1983

Hereditary posterior microphthalmos with papillomacular fold and high hyperopia.

Five patients had a bilateral hereditary ocular syndrome composed of posterior microphthalmos with a papillomacular fold and high hyperopia. Anterior segment dimensions were near normal; the vitreous compartment was markedly fore-shortened. A papillomacular retinal fold extending from the center of the fovea toward the optic nerve head was present. Visual acuity ranged from 0.05 (20/400) to 0.6 (20/33); refractive errors ranged from + 11.25 to + 17.50 diopters. An autosomal recessive pattern of inheritance is postulated.

Adult↗
PubMed1990

Microphthalmos in the presumed homozygous offspring of a first cousin marriage and linkage analysis of a locus in a family with autosomal dominant cerulean congenital cataracts.

A family with autosomal dominant congenital cataracts was studied to determine clinical variability. A total of 159 relatives was ascertained; 17 affected and 19 normal individuals were evaluated and their blood sampled for inclusion in the linkage analysis. The disease was compatible with normal to mildly decreased visual acuity until adult life in all affected except the product of a consanguineous marriage of affected first cousins who was born with bilateral microphthalmos and dense congenital cataracts, attributed to homozygosity of the cataract gene. There were no extraocular abnormalities; the patient was of normal intelligence. Twenty-three markers were typed, 18 of which were informative. Linkage could be excluded for all 18 markers at short distances.

Cataract↗
PubMed1996

Microphthalmos associated with esophageal atresia.

The authors report on a neonate who had esophageal atresia and tracheoesophageal fistula associated with unilateral microphthalmos and glandular hypospadias. Primary repair of the esophageal defect was accomplished in the first week of life. This is the first report of such a combination of congenital anomalies.

Abnormalities, Multiple↗
PubMed1993

Implanting two posterior chamber intraocular lenses in a case of microphthalmos.

A 31-year-old male with bilateral microphthalmos and a history of severe refractive amblyopia presented with early nuclear sclerosis. Intraocular lens calculations determined the patient would need about a 46.0 diopter power intraocular lens in both eyes to achieve satisfactory vision postoperatively. When no manufacturer could or was willing to make such a high-power lens, we chose to implant two lenses in each eye. The patient is satisfied with his postoperative vision and overall outcome.

Adult↗
PubMed2005

[Cataract and combined cataract/glaucoma surgery as intraocular pressure-reducing procedure in eyes with relative anterior microphthalmos].

PURPOSE: Eyes with relative anterior microphthalmos (RAM) (normal [> 20.0 mm] axial length but disproportionally small anterior segment [horizontal corneal diameter < 11 mm]) often present with increased intraocular pressure. Under these difficult conditions cataract surgery alone or in combination with a glaucoma filtering procedure is often required. PATIENTS AND METHODS: We retrospectively reviewed the records of 71 patients (108 eyes) with RAM in whom cataract only (n = 72) or combined cataract/glaucoma surgery (n = 36) was performed. Preoperative clinical and biometric findings, intraoperative complications and postoperative results (visual acuity and intraocular pressure) were analysed. RESULTS: Median preoperative values were 7.46 mm for corneal curvature, 2.53 mm for anterior chamber depth and 22.44 mm for axial length. The implanted lens had a median 25.0 dioptric power. The IOP was reduced from 15.6 +/- 3.9 mm Hg to 13.5 +/- 3.1 mm Hg with cataract surgery alone and from 22.4 +/- 5.5 mm Hg to 15.4 +/- 4.0 mm Hg with combined surgery. Mean best corrected visual acuity improved from 0.4 +/- 0.2 to 0.79 +/- 0.25 with cataract surgery and from 0.5 +/- 0.3 to 0.81 +/- 0.24 with combined surgery. Intraoperatively only 3 eyes had a rupture of the posterior capsule and postoperatively 2 eyes developed malignant glaucoma in the combined group. CONCLUSIONS: The results show that, in eyes with RAM, cataract surgery alone or in combination with glaucoma surgery can be performed with excellent results and low complication rate if adequate precautions are taken (especially the use of hyperosmotic agents).

Adult↗
PubMed2006

Evanescent white linear flecks and posterior microphthalmos: new features of a recently established disease.

BACKGROUND: Posterior microphthalmos is a rare autosomal recessive condition with normal anterior segment and small posterior segment resulting in axial hyperopia and retinal folding. HISTORY AND SIGNS: The proband from a consanguineous Turkish family was clinically investigated at 5 months of age and followed for the next 8 years. At five months of age, refraction revealed a severe hyperopia of + 10 diopters in both eyes (OU) with a mean axial length of 16.5 mm. Fundus examination showed a dystrophic maculo-papillar bundle. Multiple whitish deep intraretinal linear lesions sparing the macula were present in the mid-periphery with no preferential orientation. THERAPY AND OUTCOME: By 8 years of age, visual acuity was 20/25 in the right eye (OD) and 20/30 in the left eye (OS) with S + 14 OU. The whitish linear lesions had disappeared and were replaced by retinal pigment epithelium alterations. Optical coherence tomography (OCT) revealed a thickened retina with normal appearance at the site of the linear lesions. CONCLUSIONS: This is the first report of long-term follow-up and OCT findings in this rare ocular developmental abnormality.

Child↗
PubMed1998

A case of microphthalmos with cyst and partial trisomy 22.

A 13-day-old girl was referred for evaluation of a right orbital mass. Ophthalmic examinations revealed microphthalmia with cyst in the right eye and microphthalmia in the left eye. She had lowset ears, auricular fistula, micrognathia, and muscular hypotonia. Chromosomal analysis using fluorescence in-situ hybridization (FISH) showed partial trisomy 22. To our knowledge, microphthalmos with cyst associated with partial trisomy 22 has not been described previously in the English literature. Repeated aspiration resulted in a decrease in size of the cyst.

Chromosomes, Human, Pair 22↗
PubMed1993

Scanning electron microscope evaluation of the corneal endothelium in a case of unilateral microphthalmos with retrobulbar cyst in the pigmented rabbit.

A case of unilateral microphthalmos with a sizeable retrobulbar cyst, totally dysplastic retina, and gross nerve head coloboma is reported in an otherwise normal pigmented rabbit. Despite the gross abnormality of the posterior part of the globe, an iris sectoral coloboma, and abnormal lentoid body, the cornea was complete but had moderate edema and a reduced diameter. Scanning electron microscopy and morphometric analysis of the corneal endothelium showed a fully tessellated mosaic of cells that displayed only modest pleomorphism and polymegethism.

Animals↗
PubMed1995

Microphthalmos, facial capillary hemangioma and Dandy-Walker malformation.

We present a 6-month-old girl with the unusual combination of microphthalmos, facial capillary hemangioma and Dandy-Walker malformation. This is the fourth case with such an association reported in the literature. On the basis of the experience with our patient and with those previously reported, we stress the importance of performing brain-imaging studies on all infants with large facial hemangiomas, or if unusual ophthalmic findings are present.

Abnormalities, Multiple↗
PubMed1981

Microphthalmos and colobomata among mentally retarded individuals.

Among 993 visually impaired mentally retarded persons 86 had microphthalmos or colobomata. The aetiology was prenatal infections in 16 cases, 6 had chromosomal aberrations, syndromes previously described were present in 14, private syndromes in 3. Although the malformation association observed in 36 patients had been previously described, it was impossible to assess whether the individual cases were due to environmental or genetic causes, and in 11 cases the associations were apparently previously undescribed.

Abnormalities, Multiple↗
PubMed1990

Microphthalmos with colobomatous orbital cyst: clinical, histological, immunohistological, and electronmicroscopic findings.

A case of unilateral microphthalmos with orbital cyst is presented. This rare and severe malformation is a non-hereditary disorder. Pathologically it represents a failure in the closure of the embryonic fissure at the 7-14 mm stage of gestation. Staining for neurofilaments permitted the identification of rudimentary optic nerve fibers within the gliomatous cyst wall. Special stains for glial fibrillary acidic protein as well as scanning and transmission electron microscopy were used to characterise the neuroglial cell lining of the cyst wall, and to show microvilli on its inner surface.

Coloboma↗
PubMed1978

Incipient histopathological lesions in citral-induced microphthalmos in chick embryos.

Microphthalmos was indeed experimentally in 3-day-old chick embryos by intraamniotic injection of citral. Various degrees of this particular microphthalmic syndrome were observed. Severe cases were always accompanied by destructive changes in the ipsilateral part of the head. The corneal epithelium lost its continuity and the lens showed, even in the early stages, severe degenerative changes with spherophakia. The neural retina seemed to be affected later and showed hyperplasia and fold formation, while the retinal pigment epithelium was only mildly affected. The mesenchyme behaved differently according to its location: the superficial corneal and ciliary mesenchyme underwent hyperplasia, while the deeper choroidal mesoderm showed edematous changes only. This temporal and spatial distribution of pathological changes in the eye structures favors the assumption that citral acts locally. The experimental microphthalmic syndrome is not only due to the direct effect of the exogenous teratogenic factor on the ocular anlagen but is also the result of subsequent adaptive changes of these structures to the new environmental condition.

Acyclic Monoterpenes↗
PubMed1987

Coloboma and microphthalmos in chromosomal aberrations. Chromosomal aberrations and neural crest cell developmental field.

A survey of more than 500 reports on patients with autosomal chromosomal aberrations associated with microphthalmos and/or coloboma shows that these anomalies are unspecific. Anterior chamber anomalies were common as were abnormal ears, preauricular pits and tags, cleft lip-palate, micrognathia, urogenital malformations, congenital heart disease, atresia of the anus and minor malformations of the hands and feet. It is proposed that the chromosomal aberrations induce faulty development of neural crest cells and rostral neural plate derivatives.

Abnormalities, Multiple↗
PubMed1991

Microphthalmos with colobomatous orbital cyst in trisomy 13.

The authors describe a case of trisomy 13 with microphthalmos and colobomatous cyst of the optic nerve and of the chorioretina with orbital extension, in a six-month-old female patient. The colobomatous cyst has been studied by means of computerized axial tomography and ultrasonography in order to follow its evolution. The orbital cyst has not increased in size.

Child, Preschool↗