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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↗
PubMed2004

Optical coherence tomography of bilateral posterior microphthalmos with papillomacular fold and novel features of retinoschisis and dialysis.

PURPOSE: To report a case of retinoschisis and dialysis associated with bilateral posterior microphthalmos and papillomacular fold. DESIGN: Observational case series. METHODS: Complete ophthalmologic examination of three of five siblings presenting with bilateral posterior microphthalmos and papillomacular fold. Optical coherence tomography (OCT) data are presented to confirm the abnormal anatomy. RESULTS: All subjects have bilateral elevated horizontal papillomacular retinal fold with cystoid macular edema and shallow subretinal fluid. Optical coherence tomography was consistent with our examinations. One subject, a 13-year-old Hispanic, initially presented with retinoschisis in the superotemporal quadrant of the left retina that developed 9 years later into a retinal dialysis without subretinal fluid. The right eye of this same patient developed retinoschisis in the far superotemporal retinal periphery during 9 years of observation. CONCLUSION: Retinoschisis and dialysis may occur in patients with posterior microphthalmos with papillomacular fold. Optical coherence tomography may be helpful in assessing these patients.

Adolescent↗
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↗
PubMed1991

Bilateral microphthalmos with orbital cyst--case report.

A 3-month-old girl presented with a rare occurrence of bilateral microphthalmos associated with orbital cysts. She underwent subtotal removal of the right orbital cyst. Histological examination was compatible with microphthalmos with orbital cyst. Although microphthalmos associated with orbital cyst is rarely encountered, it must be considered in the differential diagnosis of orbital cystic lesions.

Abnormalities, Multiple↗
PubMed1996

Septo-optic dysplasia associated with bilateral complex microphthalmos.

An 8-month-old girl was examined because of corneal clouding and microphthalmos. The fundi of both eyes could not be visualized because of corneal clouding. Orbital and cranial computerized tomographic scanning and magnetic resonance imaging demonstrated bilateral microphthalmos and presumed retinal dysplasia, hypoplasia of the optic nerves and chiasm, agenesis of the septum pellucidum, thinning of corpus callosum, and a normal pituitary infundibulum. Cerebral cortex and white matter were unremarkable. Other ocular malformations were anterior segment dysgenesis in the right eye and congenital cataract or lens abnormality in the left eye. Endocrine studies revealed normal serum hormone levels. There were no colobomatous lesions and systemic anomalies suggestive of a coloboma syndrome. This case represents the rare association of septo-optic dysplasia with complex microphthalmos.

Anterior Eye Segment↗
PubMed1992

Microphthalmos with cyst--case presentation.

The author has experienced a case of microphthalmos with large orbital cyst in a 4 months old female, that was found at the time of birth. To facilitate fitting a cosmetic prosthesis, the microphthalmos with cyst was removed surgically. On serial section I could find an area of discontinuation of the sclera that was suspected to be the defective closure of the embryonic cleft. Some aberrant retinal tissue was found in the wall of the cyst, and markedly disorganized ocular tissue forming a tumor-like mass filled the microphthalmic eyeball. In view of these histopathologic findings I could draw the conclusion that developmental failure of the embryonic eyeball and consequential proliferation of the embryonic neuroepithelial cells occurred at an early developmental stage causing the formation of microphthalmos with cyst.

Cysts↗
PubMed1997

[Management of congenital microphthalmos and anophthalmos].

PURPOSE: To better characterize congenital anophthalmos and microphthalmos in order to distinguish which patients need surgical treatment. MATERIALS AND METHODS: A retrospective study of 42 cases with congenital anophthalmos and microphthalmos over a 16 years period was performed. Seven anophthalmos, 20 microphthalmic globes with no associated colobomatous orbital cyst and 15 microphthalmic globes associated with colobomatous orbital cyst were observed. Complete history, pediatrical and ophthalmological examination, electrophysiological feature, oculo-cerebral imagery and karyotype on each of the patients were reviewed. RESULTS: Among all patients, lack of development of the lids was observed in 45% of cases. In our group of anophthalmos, 100% had micro-orbit. In our group of microphthalmic globes with no associated colobomatous orbital cyst, 30% had micro-orbit and in our group of microphthalmic globes associated with colobomatous orbital cyst, 6% had micro-orbit. 75% of patients had ocular anomalies and 39% had systemic anomalies, mostly on the face. Aetiology were found in 36% of cases. Visual evoked potentials and retinal electric feature were useful to better determine visual function. CONCLUSION: Expandable orbital prosthesis would appear to be the most effective therapy for certain cases of anophthalmos and microphthalmos with micro-orbit.

Abnormalities, Multiple↗
PubMed1991

Corneal choristoma with microphthalmos.

We report two rare cases of corneal choristoma with microphthalmos. In both cases, the whole thickness of the cornea, as well as the anterior chamber and iris, was replaced by cutaneous and subcutaneous tissue. In case 1, diagnosed as dermoid choristoma, the cutaneous tissue contained skin appendages and subcutaneous fibrofatty tissue extended into the vitreous cavity. The fibrous mass in the cavity contained fragments of retina. In case 2, diagnosed as a dermislike choristoma, the cutaneous tissue lacked skin appendages. These choristomatous cutaneous tissues hindered normal growth of ocular structures, resulting in microphthalmos. Use of computed tomography was helpful in evaluating the extent of ocular tissue involvement and accompanying intraocular malformations.

Choristoma↗
PubMed1997

Dominant coloboma-microphthalmos syndrome associated with sensorineural hearing loss, hematuria, and cleft lip/palate.

Ocular colobomas and microphthalmos, isolated or as part of a syndrome, are usually sporadic and only rarely found in large families. A 4-generation family with autosomal dominant uveal coloboma and microphthalmos associated with cleft lip and palate was re-evaluated. Wide variability in expression is evident and more recently recognized manifestations include a complete spectrum of eye involvement, impairment of extraocular movement, mid-frequency sensorineural hearing loss, and hematuria. Learning difficulties requiring remedial teaching were present in one third of those affected and a neural tube defect has occurred in one presumed affected member. This family appears to present a unique phenotype, which provides an opportunity to identify a genetic locus involved in eye, ear, renal, primary palate, and brain development.

Abnormalities, Multiple↗
PubMed1977

Complicated colobomatous microphthalmos in the BW rat: a new form of inherited retinal degeneration.

A new model of inherited retinal degeneration has been found in the rat. It is inherited in association with a number of other ocular defects, including microphthalmos, coloboma, retinal dysplasia, optic nerve hypoplasia and/or aplasia, as well as medullation of the nerve fiber layer of the retina. Together, these abnormalities constitute a condition referred to as complicated colobomatous microphthalmos. This condition was originally discovered in the Bmn strain of rats but subsequently transferred to a new genetic background in the Bmn-wys strain of rats (BW). This facilitated the histological evaluation of both the developmental and degenerative ocular defects in the adult animals. A well defined pattern emerged relating eye size, optic nerve size and retinal histology. Normal-sized eyes had normal-sized optic nerves and normal retinal histology while intermediate-sized eyes with no optic nerves had uniformly thin retinas. In contrast, intermediate-sized eyes with small optic nerves had areas of both normal thickness and thin retina. All of these eyes developed retinal degeneration characterized by a late onset and slow progression associated with normal phagocytic activity in the pigment epithelium and a tendency for the rod outer segments to fragment into very thin structures rather than accumulate as lamellar debris. This indicates that the retinal degeneration in the BW model differs in many respects from the well studied RCS model.

Animals↗
PubMed2006

Congenital bilateral microphthalmos after gestational syphilis.

Congenital microphthalmos and anophthalmos are currently considered rare conditions. Many infectious agents have been previously associated with these pathologies, but rarely Treponema pallidum. We report a case of bilateral microphthalmos in which her mother presented gestational syphilis.

Adolescent↗
PubMed1975

Bilateral microphthalmos without microcornea associated with unusual papillomacular retinal folds and high hyperopia.

A 23-year-old man had bilateral microphthalmos without microcornea. The eyes measured about 15 mm in length by ultrasound while the corneas were 11 mm in diameter. A distinctive, elevated, funnel-shaped retinal fold stretching between the disk and the macula was present bilaterally. Other unusual aspects were the deep anterior chambers and uncompromised chamber angles. This combination of anomalies is believed to be the result of a failure of growth of the posterior outer coats of the eye. These were of insufficient size to accommodate the excess sensory retina which folded to conform to its outer structural shell. Other cases of high hyperopia may in some instances be cases of microphthalmos, unrecognized because of normal-sized corneas.

Adult↗
PubMed1979

Birth order and parental age in microphthalmos and other ocular diseases.

We compared the distribution of birth order and maternal and paternal ages of blind school children throughout Japan with that of the total Japanese population of the corresponding age groups and with that of a subgroup of children with acquired blindness. The number of first-born children with microphthalmos was smaller, and the number of second-, third-, or fourth-born children was larger, as compared with the control groups. The differences were highly statistically significant by chi-square test. There was a less pronounced indication of birth order effect in amblyopia, congenital cataract, and optic nerve atrophy, which involved more first-borns than in the controls. The distribution of maternal age was also different from the control group in microphthalmos, congenital cataract, corneal opacity, and optic nerve atrophy. Less mothers in their 20s and more in their 30s produced children with these conditions. We believe this finding may be partly related to the rapid decline in infant mortality and in the incidence of congenital blindness in Japan.

Adult↗
PubMed2005

Ethanolamine oleate sclerotherapy in the management of orbito-palpebral cyst associated with congenital microphthalmos.

PURPOSE: To report a novel, nonsurgical method of management of orbito-palpebral cyst associated with congenital microphthalmos. DESIGN: Interventional case series. METHODS: Two patients with orbito-palpebral cyst were included. Case 1 had bilateral orbito-palpebral cyst, whereas case 2 was unilateral. Transcutaneous cyst aspiration in both cases revealed a severely microphthalmic eye with no visual potential. Ethanolamine oleate sclerotherapy was performed immediately after cyst aspiration in both patients. RESULTS: Complete resolution of the orbito-palpebral cysts was noted within 6 weeks, and the custom prosthesis was well retained. CONCLUSIONS: Ethanolamine oleate sclerotherapy may be an effective minimal intervention treatment option for cosmetic rehabilitation of patients with orbito-palpebral cyst associated with congenital microphthalmos with no visual potential.

Cysts↗
PubMed2000

Relative anterior microphthalmos: morphometric analysis and its implications for cataract surgery.

PURPOSE: To evaluate morphometric data and risk factors for complications of cataract surgery in patients with relative anterior microphthalmos (RAM). DESIGN: Retrospective, comparative study (Part I) and matched pairs analysis with controls (Part II). PARTICIPANTS: Sixty-two patients with RAM who underwent cataract surgery at the Department of Ophthalmology, Ruprecht-Karls-University of Heidelberg, Germany, between 1989 and 1997. RAM is defined as eyes with horizontal corneal diameters </=11 mm, axial length of >20 mm, and no other morphologic malformation. MAIN OUTCOME MEASURES: Part I: Patients were examined preoperatively for anterior chamber (AC) depth, lens thickness, total axial length, and refraction. Associated ocular pathologic conditions (such as glaucoma or previous surgical interventions) were recorded. Part II: A matched pairs analysis concerning the anatomic features was performed with a group of 17 patients with RAM and 17 patients (controls) that matched the RAM group in terms of axial length, age, and gender but showed corneal diameters >11 mm. RESULTS: Part I: Anatomic parameters in RAM showed an average corneal diameter of 10.7 +/- 0.34 mm, AC depth of 2.20 +/- 0.49 mm, and average lens thickness of 5. 05 +/- 0.45 mm. Fifty-five percent of the patients had myopic refraction. There was a high incidence of glaucoma (77.4%), cornea guttata (45.2%), and pseudoexfoliation syndrome (16.1%) in the RAM group. Sixty percent of patients had undergone previous glaucoma surgery. After cataract surgery, 51.2% of patients achieved a visual acuity of >20/40 and 69.8% of >20/50. Temporary corneal edema (54. 8%) and ciliolenticular block (11.6%) were the most important complications after cataract surgery. Part II: Matched pairs analysis showed significant differences between RAM and controls in terms of AC depth (P =0.029) but no difference in lens thickness (P = 0.12). CONCLUSIONS: Relative anterior microphthalmos can be characterized in terms of morphometric data as eyes with corneal diameters </=11 mm and AC depths of 2 mm. The small anterior segment, especially the shallow anterior chamber, is responsible for the high incidence of glaucoma and postoperative complications after cataract surgery. Identifying these patients before surgery helps the cataract surgeon to be prepared for potential problems.

Aged↗
PubMed2006

[Bilateral posterior microphthalmos associated with papillomacular fold and severe hyperopia].

Posterior microphthalmos with papillomacular fold is a rare disorder that involves both eyes without other ocular or systemic abnormalities. It is characterized by a short posterior segment with a normal anterior segment. We report the case of a 3.5-year-old boy with high hyperopia. The fundus examination showed bilateral papillomacular fold and ultrasonography confirmed the posterior microphthalmos. We comment on clinical characteristics, pathogenicity, and inheritance modes of this rare congenital disorder.

Abnormalities, Multiple↗