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PubMed2002

A case of growth hormone and gonadotropin deficiency associated with unilateral anophthalmia, microphallus, cryptorchidism, and mental retardation.

We report a rare case of growth hormone and gonadotropin deficiency associated with dysmorphic features. A 16-year-old boy had left anophthalmia, microphallus, bilateral cryptorchidism, and mental retardation. His chromosomal karyotype was normal, 46, XY. Endocrinological studies revealed growth hormone and gonadotropin deficiency, attributed to hypothalamic dysfunction. Magnetic resonance imaging scan of the head showed a hypoplastic pituitary gland, decreased high intensity signals in the pituitary posterior lobe, absence of the left eye, and a hypoplastic left optic nerve with no abnormality of the pituitary stalk, corpus callosum, or septum pellucidum. Although not completely consistent with the features of septo-optic dysplasia (SOD), his condition was considered within the spectrum of SOD. Despite similarities to the Hesx1 knockout mouse, a model of human SOD, mutation analyses revealed no mutations or polymorphisms in coding regions of any exons or intron-exon boundaries of the HESX1 gene. Further genetic studies of this patient may improve understanding of molecular mechanisms involved in pituitary development.

Adolescent↗
PubMed1995

A behavioral profile of bilateral anophthalmic mutant rats.

A behavioral profile of hereditary bilateral anophthalmic mutant rat was studied in different light: dark schedules. The control and mutant rats were acclimatized to either a) a 12h light:12h dark cycle or b) continuous darkness or c) continuous illumination. The measurements of spontaneous motor activity with Opto Varimex and behavioral despair in a swim test were conducted. The daily food consumption and plasma glucose levels were also measured. The study indicated that, unlike the control rats, mutants did not exhibit any time dependent change in the spontaneous motor activity in any of the three different lighting conditions. A strong biphasic feeding burst was also not affected by anophthalmia in mutant rats. Our findings on spontaneous motor activity and the feeding pattern are contrary to those in the existing literature.

Animals↗
PubMed1977

Hereditary anophthalmia in the progeny of an X-irradiated female rat.

Inherited anophthalmia was observed in the progeny of a female rat irradiated with 50 R of X-irradiation at 17 days of age. Observations on the inheritance of the condition indicated that this anophthalmia can be considered as the result of polygenic factors with incomplete penetrance.

Animals↗
PubMed1994

Critical period for induction of ocular anomalies produced by soft x-ray irradiation (4.6 Gy) in the rat F1 offspring.

A minimal dose of soft x-ray irradiation of 4.6 Gy is expected to produce ocular anomalies on gestational day 9. A study was performed to determine whether ocular anomalies are induced in rat F1 offspring at this dose level on gestational days 6, 7, 8, 9, 10, and 11. Eyes were examined during postnatal week 5 using indirect ophthalmoscopy and biomicroscopy. Anophthalmia (1.3% and 12.1%), microphthalmia (3.8% and 6.9%), iris coloboma (3.8% and 6.9%) and choroidal coloboma (2.5% and 8.6%) were observed in the gestational day 8 and 9 treatment groups, respectively. There were no treatment-related ophthalmological abnormalities at the other time points. It is concluded that the most sensitive period for induction of ocular anomalies by soft x-ray irradiation at a dose of 4.6 Gy under these experimental conditions is during gestational days 8 and 9, and that gestational day 9 appears to be more sensitive than day 8.

Animals↗
PubMed2005

[Anophthalmia and congenital cataract: case report].

The authors report a case of anophthalmia, congenital cataract and systemic malformations. Male patient, 6 months old, left anophthalmia and congenital posterior polar cataract in the right eye. The patient was treated with manual aspiration of the crystalline lens, with no intraocular lens implantation with primary posterior capsulorhexis and anterior vitrectomy through a small incision. The association of anophthalmia and congenital cataract is rare. The early diagnosis and management in these cases is very important for the best visual rehabilitation.

Abnormalities, Multiple↗
PubMed2005

[Quantitative eyelid evaluation of anophthalmic cavity carriers with external ocular prosthesis].

PURPOSE: The authors intend to evaluate the eyelid position before and after the external prosthesis adaptation, using digital image processing techniques. METHODS: Eighteen patients were evaluated at the "Faculdade de Medicina de Botucatu-Universidade Estadual Paulista-UNESP", with and without the external prosthesis. Qualitative and quantitative analysis were done using the Scion Image program. The superior eyelid sulcus distance, margin eyelid distance and eyelid medial and lateral canthus angles were evaluated. RESULTS: Pseudostrabismus and high eyelid sulcus were the most observed alteration. The superior eyelid sulcus distance had shorter values with the prosthesis and higher values were seen analyzing the other parameters when the external prosthesis was in place. CONCLUSION: All patients had some abnormalities, which show us how difficult it is to provide a normal aspect for anophthalmic cavity carriers. The image processing allowed objective evaluations of the measures contributing to the follow-up of the patients.

Anophthalmos↗
PubMedDate not supplied

[Questionnaire of the psychosocial profile of the patient with anophthalmia with indication of ocular prosthesis].

UNLABELLED: The patient with anophthalmia may present feelings of inferiority and rejection. Knowing his/her needs and expectations contribute to a better technical intervention. PURPOSE: To elaborate a questionnaire of the psychosocial profile of the patient with anophthalmia with indication of ocular prosthesis. METHODS: An exploratory research was used to elaborate the questionnaire, by means of a guided interview followed by writing down what was said by the interviewees, who were adult patients of the Bucco-Maxillo-Facial Prosthesis Center of FOSJC - UNESP. The guided interview was made up of 14 items directly related to the future outline of the profile. Each item of the interview resulted in questions of the questionnaire, which was pretested twice before reaching its final version. RESULTS: The patients reported, in the exploratory research, unpleasant feelings with the loss of the eye; relationship shyness; expectations regarding surgery and prosthesis use; a wish to receive explanations and to hold their opinion about the treatment. The questionnaire of the psychosocial profile of the patient with anophthalmia with indication of ocular prosthesis is, therefore, made of 43 questions divided into 5 blocks in order to aid the comprehension of the inquired aspects and to facilitate both the computation of data and discussion, and also to improve the selection of questions according to the objective of the researcher or professional. CONCLUSIONS: It was concluded that the questionnaire was viable, can be used in full or by selecting blocks and provide a panorama of the patient's history related to the problem he/she faces, from the loss of the ocular globe to the confection of the prosthesis.

Adult↗
PubMedDate not supplied

[Mitomicyn C eye drops as alternative treatment for pyogenic granuloma in anophthalmic socket].

PURPOSE: To evaluate the efficacy of mitomycin C eye drops 0.02% concentration (0.02% MMC) in pyogenic granuloma in anophthalmic socket. METHODS: Six patients who presented pyogenic granuloma were treated with 0.02% MMC four times a day in fifteen-day cycles with intervals of fifteen days between each cycle. The patients were observed every week. RESULTS: Among the six studied patients, one presented a complete resolution of the pyogenic granuloma after a ten-day treatment with 0.02% MMC that is, before the end of the first cycle. In two patients, the treatment was successful after two weeks using 0.02% MMC (one complete cycle). In other two patients, the resolution of the lesion occurred after five weeks that is, at the beginning of the second cycle. 0.02% MMC was not successful in only one patient whose lesion persisted after two cycles of the treatment. None of the patients presented complications after the use of 0.02% MMC. CONCLUSION: The topical use of 0.02% MMC proved efficacy in the treatment of anophthalmic socket pyogenic granuloma. A small number of patients took part in this study, therefore another randomized and comparative research is necessary in order to compare the efficacy of 0.02% MMC with other drugs such as corticosteroids and antimetabolites.

Adolescent↗
PubMed1997

Repair of the anophthalmic cavity of rats with synthetic hydroxyapatite.

We placed spheres of synthetic hydroxyapatite (calcium chloride combined with sodium phosphate) in the eviscerated or enucleated orbital cavity of rats in order to evaluate the biocompatibility of this material with the orbital cavity. The study was conducted on 50 albino rats, 25 of which were submitted to enucleation and 25 to evisceration of one eye. The animals were sacrificed 7, 15, 21, 30 and 60 days after surgery and the orbital content was submitted to histopathological examination. A reaction of the young granulation tissue type was observed first. The hydroxyapatite was gradually surrounded by a granulomatous macrophage inflammatory response and covered with dense connective tissue that formed a sort of "mesh" septating and supporting progressively smaller blocks of the substance. The same type of reaction was observed in the enucleated and eviscerated cavities. We conclude that synthetic hydroxyapatite is an inert nonallergenic material which is appropriate for volume replacement in the anophthalmic cavity.

Animals↗
PubMed2005

Two cases of Tessier no. 4 cleft with anophthalmia.

OBJECTIVE: Tessier no. 4 cleft is a very rare craniofacial anomaly, and the primary surgical procedure has not been definitely standardized. The cheek advancement flap, technique, which was first reported by Van der Meulen (1985), has produced cosmetically favorable results. In this report, two cases with Tessier no. 4 cleft, which were treated with the cheek advancement flap technique, are presented. DESIGN AND PATIENTS: The first case was unilateral and the second was bilateral, and both were accompanied with anophthalmia on the cleft side. At the primary operation, dissection of the nasal soft tissue, medial canthopexy, and reconstruction of the lower eyelid and conjunctival fornix were performed. Cleft lip was repaired according to the rotation-advancement procedure. RESULTS AND CONCLUSIONS: Postoperative appearances were acceptable in both cases, because the resulting scars were made along the esthetic facial units. However, the soft tissue deficiency of the lower eyelid was prominent. Furthermore, in the unilateral case, caudal displacement of the palpebral fissure and cephalic deviation of the nasal ala was recognized.

Anophthalmos↗
PubMed2006

Structural birth defects associated with oral clefts in Hawaii, 1986 to 2001.

OBJECTIVE: To identify structural birth defects that occur in association with oral clefts. METHODS: Data were obtained from a birth defects registry and included all infants and fetuses with cleft palate without cleft lip or cleft lip with or without cleft palate delivered from 1986 to 2001. For 47 specific structural birth defects, rates among oral cleft cases were compared with the rates among all infants and fetuses with major birth defects, excluding those with oral clefts. RESULTS: Among cleft palate only cases, the rates were significantly higher than expected for encephalocele, microcephaly, and syndactyly. Among cases of cleft lip with or without cleft palate, the rates were significantly higher than expected for anophthalmia/microphthalmia, single ventricle, reduction deformity of upper limbs, and reduction deformity of lower limbs. When cases of cleft palate only and cleft lip with or without cleft palate were compared as to the rates for particular birth defects, the rates of the defects were either higher or lower than expected in both oral cleft categories for 38 (81%) of the defects. CONCLUSIONS: Certain birth defects were more frequently associated with oral clefts than might be expected. For the majority of defects, their patterns of association were similar between cleft palate without cleft lip and cleft lip with or without cleft palate.

Anophthalmos↗
PubMed2007

Tessier 3 cleft with clinical anophthalmia: two case reports and a review of the literature.

Tessier 3 cleft with clinical anophthalmia is one of the rarest craniofacial clefts, and hence little has been published about its management and treatment. This article presents two cases of Tessier 3 cleft with clinical anophthalmia. A review of the literature helps to diagnose these complex facial deformities. The treatment and etiopathogenesis are discussed.

Anophthalmos↗
PubMed1987

The eyeless mutant Mexican salamander (Ambystoma mexicanum): evidence for an imbalanced anteroposterior morphogenetic system.

Prospective anterolateral neural fold was grafted from normal axolotls into the posterior neural fold region (statocyst area) of eyeless mutant hosts. These unilateral anteroposterior grafts stimulated bilateral eye formation in the eyeless mutant at a rate of 79%. Replacing the statocyst area of mutants with the statocyst area from normals stimulated bilateral eye formation in 49% of the cases. Grafting of prospective anterolateral neural fold between normals and mutants or excising the statocyst region of mutants, had no effect. The results are interpreted on the basis of a hypothetical anteroposterior morphogenetic system that might be out of balance in the mutant.

Ambystoma mexicanum↗
PubMed1978

Anophthalmia and agenesis of columnella, prolabium and premaxilla without hypotelorism-a new syndrome? Case reports.

Three patients with a syndrome consisting of anophthalmia, midline upper lip pseudocleft with absent columnella, prolabium and premaxilla, but without hypo- or hypertelorism are presented, together with three borderline cases with an- or microphthalmia and lacking distal half of the nose or cleft lip and palate. The pathogenesis and relations to other facial anomalies are discussed.

Abnormalities, Multiple↗
PubMed1984

Waardenburg's recessive anophthalmia syndrome.

A family with a rare form of autosomal recessive anophthalmia, syndactyly and multiple congenital deformities is reported. The authors propose that this be recognized as a well defined autosomal recessive syndrome.

Abnormalities, Multiple↗
PubMed1984

A syndrome with true anophthalmia, hand-foot defects and mental retardation.

A syndrome with true anophthalmia, facial anomalies, hand and foot defects and mental retardation, has been observed in three patients. This syndrome is different from the Lenz syndrome, which includes microphthalmia or anophthalmia with narrow shoulders, double thumbs, skeletal abnormalities such as clavicle thinning, dental, cardiovascular and urogenital malformations without mental retardation.

Abnormalities, Multiple↗