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At least 19 recordsLinked to original sources
PubMed1996

Ultrasonic evaluation of microphthalmos and coloboma. A discussion of 3 cases, with emphasis on microphthalmos with orbital cyst.

Three cases of ophthalmic malformations are discussed from the standpoint of the usefulness of ultrasound evaluation, however with respectful reference to the revised classification of microphthalmos and coloboma presented by Warburg 1993. The main findings were, (case 1): microphthalmos with iris coloboma, unilateral posterior orbital cyst, and mental retardation, karyotype normal, consanguineous parents, (case 2) trisomy 13 with extreme microphthalmos and cheilo-gnatho-palatoschisis, and (case 3) ringchromosome 14, posterior fundus colobomas, and malformation of the heart, with features corresponding to the CHARGE association.

Abnormalities, Multiple↗
PubMed1994

[Microphthalmos and its pathogenic classification].

Congenital microphthalmos is a common malformation encountered clinically. Microphthalmos in adults is here defined as eyes whose axial length is below 20.4 mm in males and 20.1 mm in females; in under 14-year-old children, it is eyes at least 3 square root of 2/3 below the mean for age-similar controls. Experimental animals with hereditary microphthalmos have been widely investigated, and many environmental factors given to pregnant animals frequently induce microphthalmos. In both clinical and experimental microphthalmos, there are conspicuous variations in size, and various kinds of ocular and systemic complications. Recently, fetal alcohol syndrome produced by alcohol intake during pregnancy has been reported. In this syndrome, microphthalmos is one of the important symptoms. Experimentally, microphthalmos also developed at a high incidence among mouse fetuses whose mothers were given ethanol during pregnancy. The present investigator established a preliminary etiological classification of microphthalmos in 1984. In this paper summing up newly obtained results, the relationship to neural crest cells and histochemical changes of glycosaminoglycan molecular species, the author presents a final pathogenic classification of microphthalmos, which consists of developmental disturbance of the optic vesicle, malformation of the optic cup, mesenchymal dysgenesis of the anterior ocular segment, maldevelopment of the lens, maldevelopment of the vitreous, faulty closure of the embryonic fissure and developmental disturbance of the wall of eyeball.

Adolescent↗
PubMed1981

Genetics of microphthalmos.

This is a survey of the genetics of microphthalmos and the heritable syndromes in which microphthalmos occurs. New syndromes are delineated such as the autosomal dominant anophthalmos-microphthalmos-coloboma syndrome, the autosomal dominant microphthalmos, microcephaly, lacunar retinal atrophy syndrome, the autosomal recessive anophthalmos-microphthalmos-coloboma syndrome, the autosomal recessive syndrome with anophthalmos or microphthalmos and genital malformations, and the autosomal recessive syndrome with microphthalmos, microcephaly and retinal falciform folds. Nanophthalmos is described as a poorly defined phenotype and rejected as a genotype. Several other genetic entities with microphthalmos are reviewed and recent descriptions are surveyed.

Adolescent↗
PubMed2003

Management of microphthalmos and anophthalmos: prosthetic experience.

INTRODUCTION: Congenital microphthalmos and anophthalmos are rare. The reduced eyeball size, or its absence, prevents the normal development of the orbit. This lack of development has functional, physical and psychological repercussions. The authors report their experience of prosthetic treatment for microphthalmos and anophthalmos. PATIENTS AND METHODS: Our study is about 11 children with 13 cases of microphthalmos and 2 of anophthalmos. These cases have been clinically observed between 1998 and 2002. A detailed history, ophthalmological and complete paediatric examination and a prosthetic treatment were undertaken for all of them. RESULTS: 4 children had bilateral involvement. 8 children had other ocular or general malformations. No prenatal infections during pregnancy were detected (rubella, cytomegalovirus). One treatment of clinical anophthalmos was interrupted on the parents' request (slow and bad evolution with complete retraction of the orbital socket after a conjunctivitis). For 9 children, the evolution was good with growth of the orbital cavity and a satisfactory cosmetic result. However, hypoplasia was observed on the lateral orbital wall for severe microphthalmos. One child presenting a bilateral microphthalmos received a cosmetic scleral shell with optical correction. CONCLUSIONS: Management of anophthalmos is difficult and unrewarding. But the use of cosmetic scleral shells in all cases of microphthalmos, even severe ones, is useful and effective.

Anophthalmos↗
PubMed2002

Posterior segment changes associated with posterior microphthalmos.

PURPOSE: To characterize and analyze the posterior segment ocular involvement in patients with posterior microphthalmos. DESIGN: Retrospective observational case series. PARTICIPANTS: Eighteen patients (8 sporadic cases and 10 siblings from 5 different families) between the age of 4 and 36 years with posterior microphthalmos. METHODS: Records of patients with posterior microphthalmos over a 5-year-period were reviewed, including clinical, fundus photographic, fluorescein angiographic, and ultrasonographic findings, and management. RESULTS: All patients had bilateral foreshortening of the posterior ocular segment (range, 7--11.2 mm) with associated high hyperopia (range, +12.00--+19.00 diopters) and normal or slightly smaller than normal anterior segment dimensions. Visual acuity ranged from 20/200 to 20/40. Inheritance of this syndrome was compatible with an autosomal recessive pattern. Posterior segment changes included bilateral elevated papillomacular retinal fold (13 patients, 72.2%); fine retinal folds (6 patients, 33.3%); chorioretinal folds (11 patients, 61.1%); uveal effusion syndrome (3 patients, 16.7%); pigmentary retinopathy (4 patients, 22.2%), including retinitis punctata albescens in 1 patient; absence or marked reduction of the capillary-free zone (18 patients, 100%); crowded optic discs (18 patients, 100%); and sclerochoroidal thickening on ultrasonography (18 patients, 100%). Two patients with uveal effusion were successfully treated with scleral surgery. CONCLUSION: A wide variety of congenital or acquired posterior segment changes may be encountered in patients with posterior microphthalmos. Although high hyperopia and elevated papillomacular retinal fold are the main causes of visual impairment, other chorioretinal changes, such as pigmentary retinopathy, chorioretinal folds and uveal effusion syndrome, should be considered as causes of visual disturbance in patients with posterior microphthalmos. Early ultrasonographic diagnosis, close follow-up, and appropriate management are mandatory to improve or maintain visual function in such patients.

Adolescent↗
PubMed1994

Autosomal dominant simple microphthalmos.

Congenital bilateral microphthalmos is a rare malformation of the eye, which ranges from extreme to mild reduction of total axial length. Microphthalmos may occur as an isolated ocular abnormality or as part of a systemic disorder, and different classifications of the condition have been attempted. We describe a large pedigree with 14 persons in four generations affected with bilateral microphthalmos without other ocular or systemic signs. An autosomal dominant trait with complete penetrance is proposed. Five subjects underwent a complete ophthalmological evaluation. The total axial length was measured by A scan ultrasonography in all persons. Ultrasonography showed a reduction of the total axial length (range 18.4-19.7 mm) and a reduced vitreous cavity length (range 11.4-13.5 mm) in all investigated patients. All the patients had microcornea (range 8-9.7 mm). No other ocular anomalies or associated systemic malformations were found. A review of published reports also suggests that simple, partial, posterior, pure microphthalmos and nanophthalmos are similar clinical entities sharing total axial length and vitreous cavity length reduction. Therefore, the term simple microphthalmos is proposed to identify these clinical conditions.

Adult↗
PubMed1992

Update of sporadic microphthalmos and coloboma. Non-inherited anomalies.

The majority of patients with microphthalmos and colobomas have genetic disorders. This is a survey of non-inherited, sporadic microphthalmos. Such cases may occur in the Goldenhar, CHARGE and VATER associations; it may also be due to teratological agents, for instance maternal ingestion of drugs, maternal infection, fever or irradiation. In these cases it is possible that neural crest cell development is abnormal. Some drugs, for instance retinoic acid are regulators of Hox genes which control an ordered sequence of differentiation; coloboma or microphthalmos may appear if deregulation occurs. Large choristomas of the anterior segment of the eye may be associated with microphthalmos or anophthalmos. Encephaloceles or orbital tumours may deform the growing eye and are another cause of non-inherited microphthalmos.

Abnormalities, Drug-Induced↗
PubMed1989

Simple microphthalmos.

Simple microphthalmos was diagnosed in 22 patients on the basis of a normal-appearing eye and a total axial length at least 2 SDs below the mean for age. Anterior segment length was normal in most patients while posterior segment length was at least 2 SDs below the mean in all patients, indicating that disproportionate reduction in posterior segment length accounted for the microphthalmos. The normal values for total axial length, anterior segment length, and posterior segment length were determined from the analysis of axial length measurements obtained from age-similar controls. Ten patients had isolated microphthalmos. One of them was diagnosed as having nanophthalmos on the basis of microcornea, total axial length less than 18 mm, and absence of systemic disease. Twelve patients had associated systemic disorders, such as fetal alcohol syndrome, myotonic dystrophy, and achondroplasia, which implicated decreased size of the optic cup, altered vitreous proteoglycans, low intraocular pressure, and abnormal release of growth factors in the pathogenesis of microphthalmos.

Adult↗
PubMed2000

Surgical management of congenital cataract associated with severe microphthalmos.

PURPOSE: To report the results of cataract surgery in children with severe microphthalmos and congenital cataract. SETTING: Seoul National University, Department of Ophthalmology, Seoul, Korea. METHODS: Retrospective studies were conducted by reviewing the charts of 20 eyes of 11 patients with severe microcornea and microphthalmos or severe microcornea with a corneal diameter smaller than 9.0 mm. The patient pool was divided according to surgical method, specifically by incision site: an anterior group that had corneal limbal incisions and a posterior group treated via pars plicata incisions. Preoperative examinations included bilaterality, corneal diameter, axial length, and eye and systemic abnormalities. Postoperative results and complications of the 2 operative methods were compared. RESULTS: All 11 patients had bilateral congenital cataract and microphthalmos. Except in 1 case, surgeries were done in patients ranging in age from 2 to 16 months. Mean follow-up was 2 years. Corneal diameter was smaller than 9.0 mm in all 20 eyes and smaller than 7.5 mm in 11 eyes. Ten eyes were categorized into the anterior group, and the other 10 eyes were placed in the posterior group. Postoperative complications included secondary membranes in 3 eyes in the posterior group and corneal opacity in 3 eyes in the anterior group. CONCLUSION: The surgical management of children with congenital cataract and severe microphthalmos is recommended as a way to improve vision but must be performed carefully to avoid complications.

Abnormalities, Multiple↗
PubMed2000

[A descriptive epidemiological investigation of anophthalmos and microphthalmos in China during 1988 - 1992].

OBJECTIVE: To investigate the descriptive epidemiological characteristics of cases with anophthalmos and microphthalmos in China. METHOD: According to the hospital-bases monitoring method, the birth defects monitoring program was undertaken in 443 - 588 hospitals from 30 provinces, cities and autonomous regions in China. Data of the new born babies including intra-uterine death and stillbirth from 28 weeks of gestation to a period of 7 days after birth were collected between 1988 and 1992. RESULTS: There were 3,246,408 babies monitored, among which 382 cases of anophthalmos and microphthalmos were found. The average prevalence rate was 1.18/10,000 in China. The decreasing tendency of prevalence rate was shown during the period (chi(2) = 7.381, P < 0.01). The average prevalence rate in the rural area was significantly higher than that in the urban area, and the female cases were higher than that of male cases. The prevalence rates among various regions varied from 0.21 to 2.29/10,000 with the highest in Gansu province and lowest in Tianjin city. 87.7% of the cases with anophthalmos and microphthalmos were associated with other congenital malformations (multiple malformations). The associated malformations were mostly facial (including ear, neck, etc.) followed by skeletomuscular system and central nervous system. 8.1% of cases were diagnosed as syndromes, among which trisomy 21 was the most common condition. CONCLUSIONS: There were large variations in the prevalence rates of anophthalmos and microphthalmos in different parts in China. Careful analysis, particularly the chromosome analysis, should be performed to correctly diagnose the cases, especially for those with multiple malformations.

Abnormalities, Multiple↗
PubMed1985

Microphthalmos in a family.

Details of 22 members from three generations of a family exhibiting systemic and ocular abnormalities are presented. The former include mild mental retardation and a high incidence of abortion or death in the neonatal period. Ocular features comprise: microphthalmos, strabismus, hypermetropia, reduced ocular axial length and abnormal peripapillary pigmentation. The microphthalmos was seen in three forms: bilateral, severe or mild and severe microphthalmos of one eye with the fellow eye mildly affected. No individual with any degree of microphthalmos had a normal sized fellow eye and no normal individual produced an affected child. The genetic implications are discussed. The possible aetiologies of the various features are discussed and that this condition is a neurocristopathy is also considered.

Genes, Dominant↗
PubMed1989

Complex microphthalmos.

Forty patients were diagnosed as having complex microphthalmos on the basis of a malformed globe with a total axial length measurement at least 2 SDs below the mean for age-similar controls. Three had anterior segment dysgenesis; 4, congenital lens abnormalities; 14, chorioretinal colobomas; 12, persistent hyperplastic primary vitreous; 4, retinal dysplasia; and 3, complex malformations due to ipsilateral facial malformations. Measurements of total axial length indicated that complex microphthalmos was congenital and that postnatal growth of the malformed eye was similar to that of normal eyes. In most patients the anterior segment length was normal, while in all patients the posterior segment length was at least 2 SDs below the mean. Corneal diameter correlated significantly with total axial length (r2 = .57) and decreased linearly as total axial length decreased. In most patients in whom measurements were obtained, the lens and corneal power were increased, thereby compensating for decreased total axial length. We propose that inadequate production of secondary vitreous is the cause of the microphthalmos, given that the posterior segment was disproportionately reduced in size and the secondary vitreous is its predominant component. Evidence that each of the various ocular malformations can influence the production of secondary vitreous is presented.

Abnormalities, Multiple↗
PubMed1976

Clinicopathologic correlation of microphthalmos with cyst.

Three patients had microphthalmos with cyst in one orbit and contralateral congenital cystic eye, microphthalmos alone, or microphthalmos with cyst. Four eyes were examined histopathologically. The microphthalmic eye demonstrated a spectrum of anterior segment abnormalities, retinal disorganization and gliosis, and a choroidal and scleral colomboma. The cyst connected to the colobona consisted of an outer fibrovascular layer and inner gliotic neuroectodermal layer. The cyst probably originated from proliferation of neuroectodermal tissue at the edge of a persistently open embryonic fissure. Treatment consisted of multiple aspirations of the cyst, excision of the cyst alone, and excision of both the microphthalmic eye and cyst.

Abnormalities, Multiple↗
PubMed1984

The clinical implications of bilateral microphthalmos with cyst.

An infant with bilateral congenital microphthalmos with cyst developed neurologic and cardiac abnormalities that resulted in her death at the age of 7 months. When she was first examined, the cystic masses in both eyes transilluminated and were easily deformable. No ocular structures could be identified. Bilateral microphthalmos with cyst appears to be associated with major systemic abnormalities whereas unilateral microphthalmos with cyst is associated with much less serious systemic abnormalities.

Cysts↗
PubMed1996

Systemic anomalies in 77 patients with congenital anophthalmos or microphthalmos.

Congenital anophthalmos and microphthalmos are rare conditions which can have associated pathology in the second eye and/or systemic anomalies. A retrospective review of 77 patients with congenital anophthalmos or microphthalmos seen at Moorfields Eye Hospital over a 13 year period was performed. A detailed description of the ocular and systemic anomalies present in our series of patients is given, and the current understanding of the pathogenesis of congenital anophthalmos and microphthalmos is reviewed.

Abnormalities, Multiple↗
PubMed1995

Blepharophimosis syndrome: association with colobomatous microphthalmos.

OBJECTIVE: To highlight the association of colobomatous microphthalmos with blepharophimosis syndrome. RESULT: We present a case of blepharophimosis syndrome associated with bilateral optic disc, retinochoroidal and iris colobomas, and microphthalmos, in a Caucasian boy. Inheritance in this case was autosomal dominant from the maternal side. CONCLUSION: Colobomatous microphthalmos is an infrequent ocular abnormality in the blepharophimosis syndrome. Ophthalmologists should be aware of this association.

Child, Preschool↗
PubMed2003

The management of orbital cysts associated with congenital microphthalmos and anophthalmos.

AIMS: To study the management of the orbital cysts present in a group of patients with anophthalmos and microphthalmos. METHODS: A retrospective study of 34 patients (40 orbits) treated for orbital cyst associated with microphthalmos and anophthalmos. RESULTS: The two largest treatment groups comprised 17 orbits (42.5%) where the cyst was removed surgically and 17 orbits (42.5%) where the cyst was retained and conformers were used. The remaining cases comprised two orbits (5%) where the cyst was aspirated initially; two orbits (5%) with large cysts which will need to be excised after further orbital growth; one orbit (2.5%) in which a silicone expander was used initially, and one orbit (2.5%) in which a mildly microphthalmic eye had some vision and was monitored but required no surgery. CONCLUSION: In this study 33 out of 34 patients had a good cosmetic result which illustrates that the orbital cyst in microphthalmos or anophthalmos performs a useful role in socket expansion and that the majority of patients with this condition can expect a good cosmetic outcome.

Adolescent↗