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Anophthalmia in a retarded girl with partial trisomy 4p and 22 following a maternal translocation, rcp(4;22)(p15.2;q11.2).

An 18-year-old girl displayed left anophthalmia and right severe microphthalmia, mild dysmorphic features of facies and distal limbs, a right preauricular pit, and moderate mental retardation. She was trisomic for the distal part of the short arm of chromosome 4 and the proximal segment of chromosome 22, due to unbalanced 3:1 segregation of a maternal 4;22-translocation. Anophthalmia is a rare finding in chromosome aberrations in general, and particularly in patients not featuring other severe malformations and severe to profound mental retardation.

Adult↗

Effects of H-2 and vitamin A on eye defects in congenic mice.

Pregnant mice congenic with C57BL/10 (B10.A, B10.BR, B10.D2, B10.A(2R), B10.A(5R), B10.A(15R), B10.A(1R), B10.A(18R), and B10.OL) were fed Purina Mouse Chow or the same diet plus 200 IU of vitamin A daily. The pregnant dams were sacrificed on the 18th day of gestation and the fetuses were sexed and examined for defects in eye development. It was found that the frequency of microphthalmia and anophthalmia in the female progeny of mice fed Mouse Chow was 7.4-9.2% in B10.A and B10.BR, 4.0-5.5% in B10.A(18R), B10, B10.A(5R), B10.A(1R), B10.A(15R), and B10.A(2R), and 0.8% and 1.4% in B10.D2 and B10.OL mice, respectively. On average, the frequency of these defects in the female progeny was 6.2 times greater than that in males (P less than 0.001). The right eye was 5.8 times more often affected than the left (P less than 0.001). The addition of vitamin A to the diet increased the frequency of these eye abnormalities in all strains, suggesting that this effect is not mediated by loci associated with H-2, as is the case with vitamin A-enhanced cleft palate. The addition of vitamin A to the diet did not affect the ratios of affected males to females, affected right to left eye, or microphthalmia to anophthalmia. The results suggest that there are two loci on chromosome 17, one centromeric to E beta and one telemeric to C4, that interact to determine to some degree the frequency of microphthalmia and anophthalmia.

Animals↗

Correction of lower lid retraction combined with entropion using an ear cartilage graft in the anophthalmic socket.

PURPOSE: To investigate the surgical results of an ear cartilage graft and supplemental procedures for correcting lower lid retraction combined with entropion in anophthalmic patients. METHODS: We reviewed retrospectively the medical records of 7 anophthalmic patients with lower lid retraction and entropion, who received a posterior lamellar ear cartilage graft and one or both of lateral tarsal strip or eyelash-everting procedure between March 1998 and March 2003. Preoperative and postoperative lid and socket statuses were also investigated. RESULTS: Ear cartilage grafts were performed in all 7 patients, lateral tarsal strips in 6, and eyelash-everting procedures in 5. Postoperative follow-up durations ranged from 4 to 28 months (average 12.6 months). Retractions were corrected during follow-up in all patients. There were no cases of entropion immediately after surgery. However, the eyelashes of the lower lid returned to an upright position in 4 patients, but not so severe as to touch the ocular prosthesis, and thus did not require surgical correction during follow up. CONCLUSIONS: Lower lid retraction combined with entropion in anophthalmic patients can be corrected effectively using an ear cartilage graft with selective, supplemental procedures.

Adult↗

Correction of superior sulcus deformity and enophthalmos with porous high-density polyethylene sheet in anophthalmic patients.

PURPOSE: Superior sulcus deformity is the main cosmetic problem in anophthalmic patients. Many methods of correcting enophthalmos have been reported, especially in patients with orbital wall fracture. The purpose of this study is to review the long term results of effectiveness in superior sulcus deformity correction by subperiosteal Medpor sheet implantation in anophthalmic patients. METHODS: Subperiosteal Medpor sheets were used in 11 eyes of 11 anophthalmic patients. To estimate the effectiveness, photographs were taken and exophthalmometric value with their own prosthesis using Hertel exophthalmometer was measured in all patients before and after surgery. RESULTS: The overall cosmetic results in superior sulcus deformity were 'excellent' in 3 (27.3%), 'good' in 6 (54.5%), 'fair' in 2 (18.2%). The overall results in enophthalmos were 'excellent' in 3 (27.2%), 'markedly improved' in 4 (36.4%), 'slightly improved' in 4 (36.4%). Most patients had a marked increase in orbital volume, except two patients. They received irradiation treatment in early childhood so showed unsatisfactory results in both superior sulcus deformity and enophthalmos. CONCLUSIONS: Subperiosteal Medpor sheet implantation is considered to be a reliable and safe procedure without serious complication and with an excellent cosmetic result.

Adolescent↗

Ophthalmo-acromelic syndrome in a Turkish infant: case report.

Ophthalmo-acromelic syndrome (OAS) is an extremely rare autosomal recessive disorder characterised by eye malformations ranging from true anophthalmia to mild microophthalmia and acromelic malformations. In this article, we report a newborn infant with OAS because of its rare presentation. He was the fourth sibling affected in the family. The parents were healthy but there was a close blood relationship between the parents. Physical examination revealed bilateral true anophthalmia and oligodactyly (bilateral four toes) on the feet. He had no other additional abnormalities. We consider that this rare syndrome could be relatively more common in our country because six Turkish cases of OAS have been reported in the English literature to date.

Abnormalities, Multiple↗

Surgical reconstruction of the contracted orbit.

Anophthalmic patients and patients afflicted with retinoblastoma incur severe deformity of the orbit. Treatment of the severely contracted orbit is very difficult, and patient satisfaction is often poor. Since 1988, we have performed temporalis muscle transfer and surgical expansion of the contracted bony orbit in 26 patients. Satisfactory results were obtained. Gradual expansion of the orbit was performed in case of congenital anophthalmic patients. The treatment should be established in multiplicity, among many methods available for contracted eye sockets, according to the degree of orbital deformity and the amount of residual conjunctiva. In case of severe deformity, volume expansion surgery and temporalis muscle transfer are necessary. If augmentation is required in the periorbital region, rib bone onlay graft must be performed. We were able to shorten the operative time by modifying the three-wall orbital expansion technique of Tessier and Wolfe to a more simplified method. Our observations show that our procedures achieved symmetry in both eyes in all patients, and there have been no remarkable complications.

Adult↗

Congenital and acquired anophthalmia.

Anophthalmia is an absence of ocular tissue in the orbit. Important aspects in the diagnosis, evaluation, and treatment of both congenital and acquired anophthalmic patients are reviewed. Congenital and acquired anophthalmia differ in etiology, but many concepts of management can apply to either category. Specific steps in the evaluation and treatment including the proper timing for medical and surgical intervention will be discussed. The major goals for the ophthalmologist are to optimize motility and symmetry of the eyelids and orbit and coordinate efforts with other medical specialties.

Anophthalmos↗

The glass spherical hollow orbital implant: a prospective study.

OBJECTIVE: Various types of orbital implants are in use in the rehabilitation of anophthalmic patients. The latest is the expensive hydroxyapatite implant. The study objective was to evaluate the effectiveness of low cost glass spherical hollow implants, as primary and secondary implants. SETTING: St Michaels and Frazer Private Hospitals, Colombo. STUDY DESIGN AND METHOD: 65 patients had glass sphere orbital implants between 1987 and 1995; 51 primary (evisceration 46, enucleation 5) and 14 secondary (evisceration 2, enucleation 12). At 9 to 12 months follow up, patients were evaluated for mobility of implant, prosthesis mobility, lid sulcus deformity, cosmetic results and complications. RESULTS: Primary glass spherical hollow implants provide excellent mobility of the implant (92%), cosmesis (88%), prosthesis mobility (67%), with a low rate of complications (9.5%). Results of primary implant was superior to that of secondary (p < 0.001). CONCLUSION: Excellent results were obtained with spherical glass spheres as primary implants following evisceration.

Adolescent↗

Maternal and fetal toxicity of N-methylmorpholine by oral administration in rats.

N-methylmorpholine, which is used as a catalyst in polyurethane foams producing, in solvents, stabilizing agents, and corrosion inhibitors, was administered to female rats by gavage at 100, 200, 600, and 900 mg/kg during organogenesis. It did not exhibit selective toxicity toward the developing conceptus. This compound administered to pregnant females was fetotoxic and teratogenic in the presence of maternal toxicity. N-methylmorpholine induced anophthalmia, internal hydrocephalus, and hydronephrosis but only at one dose which was also maternotoxic. Teratogenesis Carcinog. Mutagen. 19:369-376, 1999.

Abnormalities, Drug-Induced↗

Pulsatile expansion therapy for orbital enlargement.

Experimental and clinical investigations have documented the modulatory role of the globe in the development of the orbit. In cases of absence or early loss of the globe, severe hypoplasia of the orbit and midface has been reported by several authors. Statical conformers and orbital osteotomies have been used to correct the resulting facial asymmetry. When replacing such conformers by increasingly larger ones, orbital structures are negatively influenced by the repeated trauma of surgical interventions. Simulating the modulatory role of the globe on orbital growth was the objective when developing a pulsatile device for orbital enlargement in cases of anophthalmia and microrbitism. The design, application and preliminary experience with a dynamic, pulsatile expanding system are presented.

Anophthalmos↗

[Potentialities of conservative and surgical treatment of patients with congenital microphthalmia and anophthalmia].

Congenital anophthalmia and microphthalmia were responsible for 1.7-1.8% cases of all cases treated at laboratory of plastic surgery and ocular prostheses. Clinical picture of the condition is described. The philosophy of rehabilitation of patients with congenital anophthalmia and microphthalmia is as follows: 1) no operations during the first years of life; 2) early staged fitting with prostheses; 3) surgical treatment in older age, when the resources of conservative extension of the cavity are exhausted. The authors emphasize that active conservative treatment should be preferred. Method for nonsurgical extension of the conjunctival cavity by staged insertion of prostheses is described. Positive and negative aspects of surgical treatments are discussed. The authors emphasize that surgical activity in early age is extremely harmful. Results of surgical treatment of 27 patients are presented. The patients were divided into 2 groups differing by the tasks of surgery: repair of consequences of previous operations (59.2% cases) and typical correction of the eye lids (40.8%). Clinical examples are offered.

Adolescent↗

[Toxic action of morphocycline on pregnant rats].

Morphocycline was administered intravenously to rats of Wistar line in doses of 100, 50 and 20 mg/kg at various periods of pregnancy. It was found that a single administration of morphocycline in the above doses to the rats on the 9th day of their pregnancy resulted in abortus in some female rats. Death and resorption of the fetus were more frequent after the antibiotic use in doses of 20 and 50 mg/kg. Repeated administrations of morphocycline in doses of 20 mg/kg resulted in abortus and postimplantation death of the fetus most pronounced in the animal groups treated with the antibiotic during the periods of the 7th to the 10th and from the 11th to the 14th days of pregnancy. The teratogenic activity of morphocycline was slightly pronounced. It was observed in some fetus after both single and repeated administrations of the antibiotic.

Abnormalities, Drug-Induced↗