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At least 19 recordsLinked to original sources
PubMedDate not supplied

Congenital anophthalmos. Ultrasonographic diagnosis of congenital anophthalmos.

Congenital anophthalmos must be differentiated from "clinical anophthalmos" where blepharophimosis renders examination of the contents of the orbit impossible. Ultrasonographic examination of these orbits can be performed for documentation of the total absence of cyst-like ocular structures without the need for examination under anesthesia and surgical exploration. Two cases of true anophthalmos have recently been seen by us and the diagnosis confirmed ultrasonographically.

Adult↗
PubMed1997

Imaging findings in patients with clinical anophthalmos.

PURPOSE: To review the intracranial and facial imaging features in children with congenital anophthalmos. METHODS: We retrospectively studied eight children with anophthalmos with respect to intraorbital, intracranial, and craniofacial anomalies (six had CT examinations, including the face, orbits, and brain, and four had MR imaging, including the orbits and brain). RESULTS: Three patients had primary bilateral anophthalmos on CT (n = 1) and MR (n = 3) studies. In these patients, MR images showed hypoplasia of the optic chiasm and posterior visual pathways (n = 3), agenesis (n = 1) or dysgenesis of the corpus callosum (n = 2), and a mass in the tuber cinereum region (n = 1). One patient had incontinentia pigmenti. Five patients had unilateral anophthalmos on CT (n = 5) and MR (n = 1) studies. One of these patients had a contralateral congenital cystic eye and one had contralateral severe microphthalmia and absent optic chiasm. All had craniofacial anomalies that consisted of midline facial clefts (n = 2) and concomitant hemifacial hypoplasia (n = 2). One had a craniosynostosis. All five had normal-appearing brains. CONCLUSION: Patients with bilateral anophthalmos represent a distinct group from those with unilateral anophthalmos. In our patients, bilateral anophthalmos was associated with absence of the optic chiasm, diminished size of the posterior optic pathways, and agenesis or dysgenesis of the corpus callosum. Patients with unilateral anophthalmos had severe craniofacial anomalies. Imaging of the face is helpful in patients with unilateral anophthalmos.

Agenesis of Corpus Callosum↗
PubMed2003

[Anophthalmos--a conjunctival implant].

The authors submit information on the completed development of a conjunctival implant and its use for modelling of the conjunctival sac in inborn and acquired anophthalmos. Plastic solution in inborn types is used for cosmetic reasons in unilateral degenerative and consecutive anophthalmos. The orbit and adnexa are usually only little affected. The other indication is secondary anophthalmos after enucleation of the bulbus when the conjunctival sac is threatened by retraction due to actionotherapy of the orbital area or a scarry process after a previous injury. The implant is a convex concave circular-shaped plate with a diameter of 20 mm the centre of which is thinner to facilitate manipulation during insertion. It is made from silicone rubber which has properties characterized as implant grade. Before the implantation proper the plate is adjusted by cutting to the desired size. The surgical procedure proper in inborn anophthalmos involves external canthotomy with gradual preparation of the conjunctiva into the Tenon space in the region of the eyelids to create a broad crevice into which the adjusted implant can be inserted. The operation is completed by closing the canthotomy supplemented by partial tarsorrhaphy using unabsorbable suture. Thus the implant is sufficiently fixed in the newly created ocular space. The silicone inlay is left for 3-6 months to allow epithelization of the surgical site round the implant. In acquired anophthalmos with retraction of the conjunctival sac in the first stage the lower transitory fold is released before insertion of the implant by the cul-de-sac method. The function of the implant is modelling of the conjunctival space in anophthalmos to maintain an adequate space for fornices for later insertion of the permanent prosthesis. The implant is manufactured at present by ELLA-CS.

Anophthalmos↗
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↗
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↗
PubMed2000

Ophthalmological and intracranial anomalies in patients with clinical anophthalmos.

PURPOSE: To better describe the clinical and neuroimaging spectrum of abnormalities in clinical anophthalmos. METHODS: We performed a retrospective review of all 17 patients admitted to the King Khaled Eye Specialist Hospital with clinical anophthalmos over a 15 year period who had a complete ophthalmological examination documented and received computed tomographic (CT) imaging of the orbits and brain. RESULTS: Patients with clinical anophthalmos had a high incidence of developmental abnormalities involving both eyes (15/17 patients, 88%), the brain (12/17 patients, 71%) and the body (7/12, 58%). The incidence of central nervous system anomalies reached 100% in patients with bilateral small optic nerves on CT scan. CONCLUSIONS: Patients with clinical anophthalmos share a similar constellation of neurological, somatic and neuroradiological abnormalities as patients with microphthalmos, septo-optic dysplasia and clinical optic nerve hypoplasia. This fact may provide insight into developmental abnormalities of the afferent visual system and brain.

Abnormalities, Multiple↗
PubMedDate not supplied

Congenital anophthalmos in Benin city, Nigeria.

Clinical Anophthalmos is a very rare condition and this is illustrated in Benin City, Nigeria where the two cases described are the only cases that have been seen at the University of Benin Teaching Hospital over a period of twenty years. The two cases were unilateral anophthalmos. The first case is a case of primary anophthalmos while the second case is the consecutive or degenerative type of anophthalmos.

Anophthalmos↗
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↗
PubMed1977

Anophthalmos in an infant with multiple congenital anomalies.

A full-term, 2,828-g male infant who lived five weeks had histologically proven, bilateral, congenital anophthalmos. The infant had multiple congenital anomalies including esophageal atresia, choanal stenosis, tetralogy of Fallot, persistent left superior vena cava, arhinencephaly, retardation of myelination in the brain, cerebellar sclerosis, and dysplasias, as well as other developmental anomalies of the central nervous system. There was no family history of anophthalmos, and, in view of the arhinencephaly, we diagnosed sporadic secondary anophthalmos.

Abnormalities, Multiple↗
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↗
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↗
PubMed1981

Contribution of computerized tomography to the study of severe congenital ocular dysplasias. Study of a case of clinical anophthalmos.

The present report summarizes the results of a study by computerized tomography (CT) in a child suffering from congenital bilateral anophthalmos and slight mental deficiency. The CT images suggest that this case can be classified as primary anophthalmos. We report a case of suspected congenital bilateral anophthalmos whom we investigated by computerized tomography (CT). A thorough examination of the brain and intraorbital contents was carried out.

Anophthalmos↗
PubMed1988

[Bilateral familial anophthalmos].

In the examined family the proband, a 14 months old male, presented a bilateral anophthalmos, bilateral cryptorchism, phimosis and decalcification of the nails. The palpebral fissures and the eyelids are smaller than normal; the orbit was empty, clad by a connective tissue without ocular buds. The testicles are unpalpable in the inguinal canal. The proband have a normal karyotype. Also a brother of the proband, dead for meningitis (age five months), had bilateral anophthalmos. The maternal branch of the family is lacking in hereditary pathology. On the contrary, the anamnesis of the paternal branch present very interesting data. His grandmother married twice; from the first marriage came, at the second generation, the sibship of the father, who had a sister with Franceschetti syndrome and another sister with double lower dental arch. From a second marriage originated, at the second generation, eleven siblings sibship, all seriously malformed and a dead infant, but the first-born having bilateral anophthalmos.

Anophthalmos↗
PubMed2003

[Treatment of congenital clinical anophthalmos with high hydrophilic hydrogel expanders].

INTRODUCTION: Children presenting with congenital anophthalmos usually develop a smaller bony orbit, a constricted mucosal socket, and a shortened eyelid fissure. This causes problems when fitting these patients with a prosthesis. Clinical evaluation of the Wiese self-inflating hydrogel expanders has demonstrated their ability to expand the socket and eyelid fissure for inserting a more realistic prosthesis in shorter periods of time. PATIENTS AND METHOD: The study included 13 consecutive anophthalmic patients, eight unilateral and five bilateral. Each patient received a hemispherical osmotic tissue expander in the rudimentary mucosal socket and later a sphere implanted in the deeper soft orbital tissue. RESULTS: The use of hydrogel expanders enlarged the lid and palpebral fissure in all children, with good cosmetic results. It allowed insertion of custom-made glass prostheses with good cosmetic appearance very early in life. Growth of the bony orbit may be stimulated successfully by these expanders in the soft orbital tissue. CONCLUSIONS: The enlargement of constricted mucosal sockets and short palpebral fissures using self-inflating hydrogel expanders is a new and successful concept in treating congenital anophthalmos.

Anophthalmos↗
PubMed2001

Clinical findings, consanguinity, and pedigrees in children with anophthalmos in southern India.

This study aimed to describe clinical findings, pedigrees, and possible environmental risk factors in children with clinical anophthalmos and remnant microphthalmos in either eye in southern India. Twenty-four children (14 male, 10 female; mean age 10.3 years, age range 1.3 to 18 years,) were recruited from schools for the blind, hospitals, and community-based rehabilitation programmes in Andhra Pradesh, India, over 1 year. Family members were examined, and mothers interviewed. Fifteen children had anophthalmos and nine had remnant microphthalmos in one or both eyes. Twelve children had associated systemic findings, of which six were major and six were minor abnormalities. Information on consanguinity was available in 19 children, 12 of whom had consanguineous parents. Five children had a positive family history. Two mothers had a history of night blindness, and one had a history of pesticide exposure during pregnancy. High rates of consanguinity suggest a genetic recessive aetiology.

Adolescent↗
PubMed2004

[Orbital volume in congenital clinical anophthalmos].

INTRODUCTION: The purpose of this study is to report orbital volume measurement results in patients with congenital clinical anophthalmia before and after therapy and to compare them with normal values. PATIENTS AND METHOD: Normal values were obtained from 35 healthy children (22 boys, 13 girls; aged 3 month to 7 years) in whom MRI was done for non-ophthalmological reasons. 18 patients with congenital anophthalmos could be included, 9 with bilateral, 8 with unilateral disease and 1 microphthalmos. 6 of them had MRI follow-up (more than one examination). RESULTS: Orbital volume at birth is 7 ml and it increases with age: Orbital volume = 7.701 x age (month) (0.2484) ml. It is around 14.2 ml at the age 1 year, 17 ml with 2 years and reaches 23 ml with 7 years. In unilateral clinical anophthalmos orbital volume is 35 to 58 % compared with the healthy side and 31 to 65 % compared with the normal values. In bilateral cases the volume is 43 to 70 % of the normal value. During treatment it develops in parallel to the normal values. CONCLUSIONS: The normal values measured by our group are in accordance with the only published study by Bentley . MRI orbital volumetry is a reliable method without using radiation. It allows us to quantify the bony asymmetry and is suitable for therapy control when using orbital expanders. The congenital missing eye might be the most important reason why the orbit does not develop in the normal way to a normal size. Self-inflating high, hydrophilic hydrogel expanders do not seem to be able to compensate this, in spite of the fact that they work very well to prepare the socket for a prosthesis.

Aging↗
PubMed2003

Congenital nasolacrimal duct occlusion with clinical anophthalmos: a possible new association.

PURPOSE: To report the association of congenital nasolacrimal duct occlusion and clinical anophthalmos in an eight-year-old girl. METHODS: A case report. The patient suffered from epiphora and clinical anophthalmos on the right side since birth. This paper presents the clinical presentation, workup, and surgical approach of the case. RESULTS: The nasolacrimal system of the patient was occluded on irrigation. Computed tomography showed a blockage at the level of the sac-duct junction, an enlarged nasolacrimal duct below the obstruction, and a sclera-like ball of tissue surrounded by extraocular muscles in the right orbit. Treatment included a right bicanalicular silicon intubation performed under general anesthesia. CONCLUSION: This case may represent a new association that has not been previously reported.

Anophthalmos↗
PubMed1987

Clinical anophthalmos.

We report on 15 patients (10 boys, 5 girls) with clinical anophthalmos. Two of them had bilateral anophthalmos, 10 had systemic anomalies, and six had abnormalities of their remaining eye. Only two appeared to have an associated underlying aetiology. Fourteen patients underwent orbital reconstruction or socket enlargement with varying degrees of success. Our own experience suggests that unnecessary lid procedures should be avoided, but we recommend early prosthetic fittings. We feel that a multidisciplinary approach is necessary to attain useful rehabilitation.

Anophthalmos↗