Clinical Anophthalmos Research Articles

Clinical Congenital Anophthalmos and Microphthalmos-Experiences of Patients and Their Parents after More than 10 Years of Treatment.

Congenital clinical anophthalmos and blind microphthalmos describe the absence of an eye or the presence of a small eye in the orbit. Between 1999 and 2013, 97 children with anophthalmos or microphthalmos were treated with self-inflating, hydrophilic gel expanders at the Rostock Eye Clinic. More than a decade later, this study investigated the perspective of patients and parents regarding the treatment, the surgical outcome, and the emotional and social well-being of the patients. A total of 22 families with 16 patients sighted in the other eye and six patients blind in both eyes participated. Questionnaires were developed, including items on physical, emotional, social, and medical aspects. The patients felt emotionally stable and integrated into their social environment, with no major limitations reported by the majority. These statements were confirmed by most of the parents. Parents (67%) indicated that the success of the operation was already apparent after the first intervention and that the current situation did not play a role in the patients' social environment. The study provided new insights into the therapy results, the postoperative care, and the social and emotional stability of the prosthesis-wearing patients, indicating the chosen expander methods as promising in terms of positive postoperative care.

Tränenwegsbefunde von 143 Kindern mit Mikrophthalmus-Anophthalmus-Komplex

Report of clinical findings relating to the lacrimal system in congenital clinical anophthalmos and severe blind microphthalmos (MAC-complex patients). A retrospective study of the notes of 207 consecutive patients treated surgically at least once with highly hydrophilic self-inflating expanders for MAC between 1998 and 2021. The lacrimal drainage system was always probed and irrigated under general anaesthesia before any other procedure was started. 64 patients were excluded due to possible misdiagnosis because of previous lid or orbit surgery elsewhere or due to missing data. The analysis therefore included 67 girls and 76 boys aged between 1 and 126 months (median age: 5 months). 72 patients presented with unilateral and 42 with bilateral anophthalmos, and 24 had unilateral and 5 bilateral microphthalmos; consequently, 286 orbits (of which, 190with probable pathology) were available for assessment. In unilateral cases the lacrimal system on the normal side was never affected. On the anophthalmic or microphthalmic side the lacrimal system was normal in 68 orbits only (35.8%). The most frequent finding was canalicular stenosis (91 orbits; 48%). Common canaliculus stenosis was observed in 12 orbits (6.3%) and nasolacrimal duct obstruction in 9 orbits (4.7%). There were four cases of punctal aplasia, but no other anomalies. In unilateral MAC pathologic findings during lacrimal probing were found to be associated with anatomical malformation of the contralateral fellow eye. Only in unilateral anophthalmos there was a significant association with cleft lip and palate, which was not found in the three other groups. In congenital clinical anophthalmos the lacrimal system is affected in up to 66.5% of cases, mostly due to canalicular stenosis. Even if there is no clear evidence of an embryological connection, this association is certainly not a random finding.

Congenital anophthalmos in Benin city

Congenital anophthalmos is a rare clinical condition. This is a report of two cases of clinical anophthalmos seen in Benin City, Nigeria. Two cases of unilateral anophthalmos have been previously reported. Bilateral clinical anophthalmos is a relatively rare condition hence the first reported case in Benin City is presented. The first patient presented with primary anophthalmos while the second case presented with degenerative or consecutive anophthalmos.

Simultaneous Occurrence of Glial Heterotopia and Meningocele in the Orbit With Clinical Anophthalmia and Neurological Anomalies

The authors describe a 5-year-old boy who had three congenital anomalies (clinical anophthalmos, meningocele, and glial heterotopia) in the orbit. These were associated with multiple neurological anomalies.

Results of lacrimal assessment in patients with congenital clinical anophthalmos or blind microphthalmos

Aim:To report clinical findings relating to the lacrimal system in congenital clinical anophthalmos and severe blind microphthalmos.Methods:A retrospective (up to 2003) and prospective (2004 onwards) study of the notes of...

Orbitavolumetrie bei kongenitalem klinischen Anophthalmus

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. 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). 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. 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.

Use of self-expanding, hydrophilic osmotic expanders (hydrogel) in the reconstruction of congenital clinical anophthalmos

Rehabilitation of the congenitally anophthalmic orbit is frustrating to both the parents and physician. Traditional methods involve using progressively enlarging static acrylic conformers to expand the conjunctival socket, followed by placement of conventional static spherical orbital implants, dermis-fat grafts, or inflatable balloon expanders for orbital enlargement. Limitations of these methods typically result in less-than-optimal cosmetic outcomes, with retardation of bony orbital and overlying soft tissue growth adversely affecting midfacial growth and symmetry. Recent advances in tissue expansion technology may offer additional, novel alternatives to conventional therapies. Hydrogel tissue expanders were recently adapted for use in congenital anophthalmia. The expanders are placed in their dry, contracted states, and expand gradually to their full size via osmosis of surrounding tissue fluid, with up to a 10-fold increase in volume. Offering the benefit of predictable and controllable self-expansion, hydrogel expanders may offer yet another alternative or adjunctive therapy to the early rehabilitation of the contracted socket. Separate appliances are used for conjunctival and orbital reconstruction. Initial results appear promising. Tempering the enthusiasm for their use, however-particularly in terms of implanted orbital expanders-is the recent spate of long-term complications reported from previous uses of hydrogels as scleral buckling material. Self-expanding hydrogel tissue expanders appear to offer an intriguing reconstructive alternative to the frustrating condition of congenital anophthalmia. Long-term safety of the material as an orbital implant has not yet been demonstrated, but early results are promising.

Management of microphthalmos and anophthalmos: prosthetic experience.

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. 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. 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. 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.

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.

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.

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.

Ophthalmological and intracranial anomalies in patients with clinical anophthalmos.

To better describe the clinical and neuroimaging spectrum of abnormalities in clinical anophthalmos. 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. 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. 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.

Bilateral clinical anophthalmos

We report on the risk factors, associations and outcome of 5 children with bilateral clinical anophthalmos. Our study showed no gestational, environmental or hereditary association but confirmed strong association with multiple systemic abnormalities.

X-linked clinical anophthalmos Localization of the gene to Xq27-Xq28

A Northern Ireland family is reported on, in which there is X-linked inheritance of clinical anophthalmos. Multi-point linkage analysis suggests that the gene is localized to the Xq27-28 region (Z = 1.9, Theta = 0.08), though not between the DNA markers DX13 and Factor VIII.

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.

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.

Ocular manifestations of the Meckel syndrome.

The Meckel syndrome is a genetically determined (autosomal recessive) disease with major developmental abnormalities incompatible with life. The ocular manifestations include cryptophthalmos, clinical anophthalmos, microphthalmos, sclerocornea, microcornea, abnormal iridocorneal angle, partial aniridia, cataract, persistent tunica vasculosa lentis, retinal dysplasia, posterior staphyloma, and hypoplasia of the optic nerve. The ocular abnormalities are very similar to those of the 13-15 trisomy syndrome, but the chromosome karyotype is normal in the Meckel syndrome.

The Association of Bilateral Clinical Anophthalmos With Familial and Multiple Ocular Defects

The Association of Bilateral Clinical Anophthalmos With Familial and Multiple Ocular Defects