Anophthalmos (Anophthalmia)

08/15/2013 - "We used whole-exome and whole-genome sequencing to study a family with two affected brothers with bilateral A/M and a simplex case with bilateral anophthalmia and hypoplasia of the optic nerve and optic chiasm. "
01/01/2014 - "In our search for novel ciliopathy-linked genes through the study of unmapped ciliopathy phenotypes, we have identified two simplex cases with a severe ciliopathy phenotype consistent with oro-facio-digital syndrome type IX featuring midline cleft, microcephaly, and colobomatous microphathalmia/anophthalmia. "

11/03/2015 - "OTX2 (orthodenticle homeobox 2) haplodeficiency causes diverse defects in mammalian visual systems ranging from retinal dysfunction to anophthalmia. "
11/13/2013 - "Here, we scanned a homogeneous group of blind people with bilateral congenital anophthalmia, a condition in which both eyes fail to develop, and, as a result, the visual pathway is not stimulated by either light or retinal waves. "
03/01/2005 - "Mutations in Six3 inhibit retinal formation in chickens and fish, whereas those in Six6 are the underlying cause of bilateral anophthalmia in humans. "
01/01/2004 - "Ptdsr -/- mice with anophthalmia develop novel lesions, with induction of ectopic retinal-pigmented epithelium in nasal cavities. "
04/01/1975 - "Anophthalmia in the Syrian hamster was found to result from an extensive degeneration of retinal tissue and tissues derived from the retina. "

09/01/1990 - "These prosthetic cosmetic parameters are of paramount importance for effective cosmetic rehabilitation of anophthalmia patients."
04/01/1969 - "Cosmetic treatment of bilateral anophthalmos."
09/01/1991 - "[Late results of cosmetic prosthesis in patients with anophthalmia syndrome]."
09/01/1990 - "Effective cosmetic rehabilitation of patients with anophthalmia can be activated if methods based on the use of the cosmetic parameters for prostheses, listed below, are employed: (1) eyelid position and relief, (2) eye opening, (3) position of the iris and pupil, (4) diameters of the iris and pupil, (5) position and decline of the prosthesis, (6) depth of the prosthesis position in the orbit, (7) cavity filling with the prosthesis, (8) prosthesis mobility, (9) sclera color, (10) iris color. "
01/01/1989 - "The paper analyses remote results of cosmetic prosthesis (more than 4 months) in 107 patients with anophthalmos. "

10/01/2008 - "OTX2 mutation in a patient with anophthalmia, short stature, and partial growth hormone deficiency: functional studies using the IRBP, HESX1, and POU1F1 promoters."
06/01/2010 - "Endocrine evaluation of the hypothalamic-pituitary axis revealed isolated growth hormone deficiency (IGHD) with small anterior pituitary gland, invisible stalk, ectopic posterior lobe, and right anophthalmia on brain magnetic resonance imaging. "
06/01/2010 - "A novel loss-of-function mutation in OTX2 in a patient with anophthalmia and isolated growth hormone deficiency."
01/25/2014 - "We report a novel heterozygous mutation in the SOX2 gene in a male affected with congenital bilateral anophthalmia, hypogonadotrophic hypogonadism and growth hormone deficiency. "
01/25/2014 - "A novel heterozygous SOX2 mutation causing congenital bilateral anophthalmia, hypogonadotropic hypogonadism and growth hormone deficiency."

09/01/2011 - "The introduction of hydrogel socket and orbital expanders has modified the approach towards the rehabilitation of congenital anophthalmia. "
10/01/2004 - "Use of self-expanding, hydrophilic osmotic expanders (hydrogel) in the reconstruction of congenital clinical anophthalmos."
07/01/2003 - "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."
07/01/2003 - "[Treatment of congenital clinical anophthalmos with high hydrophilic hydrogel expanders]."
10/01/2004 - "Self-expanding hydrogel tissue expanders appear to offer an intriguing reconstructive alternative to the frustrating condition of congenital anophthalmia. "

01/01/1967 - "[Comparative histochemical studies of the retina in rat fetuses, normal and with unilateral anophthalmia induced with trypan blue]."
01/01/1989 - "Retinal projections, particularly the ipsilateral projections, to the medial terminal nucleus (MTN) of the accessory optic system were investigated by autoradiography in adult rats after being reared in one of three different conditions: (1) normal visual experiences, (2) an application of trypan blue for intrauterine induction of congenital unilateral anophthalmia; and (3) the procedures for intrauterine production of congenital microphthalmia in which both eyes are reduced in size. "
01/01/1968 - "Cytophotometric measurements of DNA in retinal cell nuclei in rat foetuses with trypan blue-induced unilateral anophthalmia."

10/03/2013 - "Our study thus suggests that both recessive and dominant mutations in RARB cause anophthalmia and/or microphthalmia and diaphragmatic hernia, providing further evidence of the crucial role of the retinoic acid pathway during eye development and organogenesis. "
10/01/2000 - "A wide spectrum of congenital abnormalities, including exophthalmos, microphthalmia and anophthalmia, maxillo-mandibular dysostosis, micrognathia of both maxilla and mandible, cleft palate, subdevelopment of ear lobe, preauricular tags and macroglossia, were observed in the offspring of retinoic acid treated animals. "

02/15/2002 - "Two sporadic cases of eventration of the diaphragm are reported; one had bilateral colobomatous microphthalmia and the other had anophthalmia. "
01/01/2010 - "Seventy patients having non-syndromic forms of colobomatous microphthalmia (n=25), isolated microphthalmia (n=18), or anophthalmia (n=17), and syndromic forms of micro/anophthalmia (n=10) were included in this study after negative molecular screening for OTX2, RAX, SOX2, and CHX10 mutations. "

12/01/1980 - "We have described a unilateral anophthalmia in an infant with normal chromosome studies born to parents who took LSD before and during pregnancy. "
12/01/1980 - "In view of the lack of any other fetal abnormalities in this child, known to be associated with LSD, we report this case to suggest that anophthalmia may be a new drug-related defect. "
12/01/1980 - "Anophthalmia in an infant of parents using LSD."

12/01/2006 - "In this study, we demonstrate that inactivation of the heparan sulfate biosynthetic gene Ndst1 resulted in invagination defects of the early lens and in the disruption of lens-determination gene expression, leading to severe lens hypoplasia or anophthalmia. "

01/01/2015 - "The author refers about the plastic surgery technique of deepening the conjunctival sac in acquired anophthalmos without the orbital implant. "
12/01/2007 - "[Choice of proper time for orbital implant in anophthalmia children]."
03/01/2010 - "For patients with acquired anophthalmos, the use of orbital implants is essential for optimal fitting of the prosthesis. "
11/01/1998 - "Frequent clinical-radiologic queries regarding the anophthalmic socket include neuro-radiologic findings with congenital anophthalmia or bilateral microphthalmia, the vascularization or position of an orbital implant following enucleation, or orbital recurrence of tumor following enucleation. "
01/01/2002 - "Analysis of disease structure in anophthalmia helped determine the priority trends of surgical rehabilitation of this group of patients: enucleation with plasty of the supporting motor stump, 36.6%; postradiation atrophy of orbital tissues after enucleation for retinoblastoma, 22.6%; anophthalmic syndrome, 11.7%; cicatricial deformation of the cavity, 11.5%; anophthalmia with concomitant eyelid deformation, 6.1%; anophthalmia with orbital deformation, 3.1%; denudation of orbital implants, 2.6%; congenital anophthalmia, 2.5%; prolapse of the inferior vault and upper eyelid ptosis, 1.8 and 1.4%, respectively. "

05/01/2007 - "By analyzing a great body of clinical materials from 1337 patients with anophthalmos, they show the ways of forming a locomotor stump and the most commonly used implants and recommend the optimal shapes of standard artificial eyes for the rehabilitation of persons with anophthalmos and a cosmetically defective blind eye. "
07/01/2006 - "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. "
07/01/2006 - "To elaborate a questionnaire of the psychosocial profile of the patient with anophthalmia with indication of ocular prosthesis. "
07/01/2006 - "[Questionnaire of the psychosocial profile of the patient with anophthalmia with indication of ocular prosthesis]."
10/01/2005 - "Congenital clinical anophthalmia requires fitting an artificial eye, achieving a pleasing aspect of the palpebral apparatus, and stimulating growth of the orbit, as well as of the entire midface. "

07/01/1993 - "A skeletal growth study evaluating an intraorbital tissue expander as a globe replacement in anophthalmos was conducted in an infant animal model. "
03/01/2011 - "Evaluation of an integrated orbital tissue expander in congenital anophthalmos: report of preliminary clinical experience."
01/01/1991 - "A modified tissue expander for socket enlargement in clinical anophthalmos."
09/01/1990 - "In conclusion, orbital tissue expanders offer a promising new technique in the treatment of anophthalmos."
10/01/2004 - "Self-expanding hydrogel tissue expanders appear to offer an intriguing reconstructive alternative to the frustrating condition of congenital anophthalmia. "

09/01/2006 - "Instead of using a ball shaped standard hydrogel expander or a regular orbital implant, which would necessitate enucleation of the microphthalmic eye, this study investigates the feasibility of volume augmentation with injectable pellet expanders, as formerly suggested for acquired anophthalmos in adults only. "
09/01/2006 - "Orbital volume augmentation with injectable self inflating hydrogel expander pellets is apparently a safe, quick, and minimally invasive technique for various indications in orbital reconstructive surgery-for example, to treat an enophthalmic appearance in microphthalmos and congenital or acquired anophthalmos."

07/01/2003 - "In congenital anophthalmia the conjunctival sac is very small and contracted and patients cannot wear a prosthesis or even a conformer. "
01/01/2003 - "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. "
04/01/1983 - "[Prosthesis in micro-orbitism and anophthalmia]."
03/01/2010 - "For patients with acquired anophthalmos, the use of orbital implants is essential for optimal fitting of the prosthesis. "
05/01/2001 - "Methods for measuring the mobility of ocular prostheses in patients with anophthalmia were developed and compared between each other and with the traditional Forster method for measuring the prosthesis mobility along perimeter. "