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Eye (London, England) Jul 2019To report the customized approach of patients with anophthalmia or microphthalmia with bespoke ocular prosthesis.
PURPOSE
To report the customized approach of patients with anophthalmia or microphthalmia with bespoke ocular prosthesis.
METHODS
Retrospective analysis of case series.
RESULTS
The study included cases with anophthalmia with upper eyelid deformity (one patient), microphthalmia and contralateral corectopia (one patient), microphthalmia with contralateral corneal graft (one patient), and congenital clinical anophthalmia with contralateral sclerocornea (one patient). Using techniques of embedded autologous hair and coating of adhesive pigment emulsion in the ocular prosthesis, the physical appearance of, respectively, an upper eyelid, corectopia, corneal graft, and sclerocornea was reproduced.
CONCLUSION
Tailoring the ocular prosthesis to the distinct condition of the anophthalmic socket and contralateral eye adds to the success of rehabilitative prosthetic treatment of the patient.
Topics: Adult; Aged; Anophthalmos; Eye, Artificial; Female; Humans; Infant; Male; Microphthalmos; Middle Aged; Prosthesis Design
PubMed: 30837709
DOI: 10.1038/s41433-019-0385-3 -
Children (Basel, Switzerland) Dec 2022Congenital 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...
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.
PubMed: 36670585
DOI: 10.3390/children10010034 -
Current Eye Research Mar 2020When an eye has become irreversibly blind or painful it is removed by enucleation or evisceration. The resulting anophthalmic socket usually receives a volume replacing... (Review)
Review
When an eye has become irreversibly blind or painful it is removed by enucleation or evisceration. The resulting anophthalmic socket usually receives a volume replacing implant and is subsequently fitted with a prosthetic shell for adequate cosmesis. Trauma, tumour or immunological pathomechanisms can induce loss of bone, orbital soft tissue volume, and conjunctival contraction or implant exposure, which result in difficult or impossible prosthesis wear. In this situation as well as in numerous diseases limited to the conjunctiva (e.g. Pterygium, or cicatrizing conjunctivitis) strategies to substitute the lost tissue are required. A review of the literature search using various electronic databases (PubMed and MEDLINE) was performed on indications, surgical techniques and materials used to restore the ocular socket. Amniotic membrane and oral mucosa are still the most commonly used substitutes for the reconstruction of larger conjunctival defects and ocular socket reconstruction. However, due to limitations of clinical available grafts, synthetic scaffolds, biomaterials or tissue-engineered grafts have been described in preclinical studies but most of them have not been investigated adequately in clinical studies yet. In orbital volume replacement, porous and nonporous spheres are used and both show acceptable results. However, more clinical studies are required that directly compare the outcomes in patients with similar conditions. Dermofat graft remains a good option in case of sockets with significant orbital volume and conjunctival surface loss. Beyond established techniques using autologous or allogeneic tissue, various approaches of engineering tissue based on scaffolds and stem cell expansion techniques are currently under investigation and may become alternatives in socket reconstruction in the not too far future.
Topics: Anophthalmos; Biocompatible Materials; Humans; Orbital Implants; Prosthesis Implantation; Plastic Surgery Procedures; Regeneration
PubMed: 31910675
DOI: 10.1080/02713683.2020.1712423 -
American Journal of Obstetrics and... Nov 2019
Topics: Anophthalmos; Delivery, Obstetric; Diagnosis, Differential; Female; Genetic Testing; Humans; Microphthalmos; Pregnancy; Prognosis; Ultrasonography, Prenatal
PubMed: 31679591
DOI: 10.1016/j.ajog.2019.08.054 -
Die Ophthalmologie Feb 2023One of the greatest challenges for ocularists is prosthetic fitting in children, especially in children with congenital anomalies such as clinical anophthalmia or... (Review)
Review
One of the greatest challenges for ocularists is prosthetic fitting in children, especially in children with congenital anomalies such as clinical anophthalmia or functionless (blind) microphthalmia. The most frequent reason for prosthetic fitting in children is a condition following enucleation for retinoblastoma, followed by trauma and congenital pathologies. The standard treatment after enucleation or evisceration begins intraoperatively with the selection of an suitable implant and the use of a conformer at the end of the operation to shape the prosthetic cavity. An initial prosthesis can be fitted 4 weeks postoperatively, with a final fitting taking place 3 months later. If iatrogenic scarring or scarring due to an infection of the prosthetic cavity occurs, the approach of the ocularist must be appropriately adapted with the use of modified prosthesis shapes and shorter treatment intervals. Surgical options include scar excision and oral mucosa or amniotic membrane transplantation. Congenital anomalies require the shortest treatment intervals and even more so for anophthalmia than for microphthalmia. The strategy is characterized by simultaneous stimulation of the soft tissue of the ocular adnexa as well as the bony orbit. As self-inflating hydrogel expanders are no longer available, conservative prosthetic treatment is the only option. Close cooperation between child/parent, ocularist and ophthalmic plastic surgeon is the best prerequisite for a good long-term treatment outcome.
Topics: Humans; Child; Anophthalmos; Microphthalmos; Cicatrix; Eye, Artificial; Prosthesis Implantation
PubMed: 36662298
DOI: 10.1007/s00347-022-01794-1 -
Human Genetics Sep 2019Mouse mutants are a long-lasting, valuable tool to identify genes underlying eye diseases, because the absence of eyes, very small eyes and severely affected,... (Review)
Review
Mouse mutants are a long-lasting, valuable tool to identify genes underlying eye diseases, because the absence of eyes, very small eyes and severely affected, cataractous eyes are easily to detect without major technical equipment. In mice, actually 145 genes or loci are known for anophthalmia, 269 for microphthalmia, and 180 for cataracts. Approximately, 25% of the loci are not yet characterized; however, some of the ancient lines are extinct and not available for future research. The phenotypes of the mutants represent a continuous spectrum either in anophthalmia and microphthalmia, or in microphthalmia and cataracts. On the other side, mouse models are still missing for some genes, which have been identified in human families to be causative for anophthalmia, microphthalmia, or cataracts. Finally, the mouse offers the possibility to genetically test the roles of modifiers and the role of SNPs; these aspects open new avenues for ophthalmogenetics in the mouse.
Topics: Animals; Anophthalmos; Cataract; Eye; Humans; Mice; Microphthalmos; Mutation; Phenotype
PubMed: 30919050
DOI: 10.1007/s00439-019-01995-w -
European Journal of Human Genetics :... Mar 2020Name of the disease (synonyms) See Table 1, Column 1-"Name of disease" and Column 2-"Alternative names". OMIM# of the disease See Table 1, Column 3-"OMIM# of the...
Name of the disease (synonyms) See Table 1, Column 1-"Name of disease" and Column 2-"Alternative names". OMIM# of the disease See Table 1, Column 3-"OMIM# of the disease". Name of the analysed genes or DNA/chromosome segments and OMIM# of the gene(s) Core genes (irrespective of being tested by Sanger sequencing or next-generation sequencing): See Table 1, Column 4-"Cytogenetic location", Column 5-"Associated gene(s)" and Column 6-"OMIM# of associated gene(s)". Additional genes (if tested by next-generation sequencing, including Whole exome/genome sequencing and panel sequencing): See Table 2, Column 1-"Gene", Column 2-"Alternative names", Column 3-"OMIM# of gene" and Column 4-"Cytogenetic location". Review of the analytical and clinical validity as well as of the clinical utility of DNA-based testing for mutations in the gene(s) in diagnostic, predictive and prenatal settings, and for risk assessment in relatives.
Topics: Anophthalmos; Genetic Loci; Genetic Testing; High-Throughput Nucleotide Sequencing; Humans; Mutation; Phenotype; Sensitivity and Specificity; Sequence Analysis, DNA
PubMed: 31358957
DOI: 10.1038/s41431-019-0479-1 -
Pediatric Radiology May 2024Orbital pathologies can be broadly classified as ocular, extra-ocular soft-tissue (non-neoplastic and neoplastic), osseous, and traumatic. In part 1 of this orbital...
Orbital pathologies can be broadly classified as ocular, extra-ocular soft-tissue (non-neoplastic and neoplastic), osseous, and traumatic. In part 1 of this orbital series, the authors will discuss the differential diagnosis and key imaging features of pediatric ocular pathologies. These include congenital and developmental lesions (microphthalmos, anophthalmos, persistent fetal vasculature, coloboma, morning glory disc anomaly, retinopathy of prematurity, Coats disease), optic disc drusen, infective and inflammatory lesions (uveitis, toxocariasis, toxoplasmosis), and ocular neoplasms (retinoblastoma, retinal hamartoma, choroidal melanoma, choroidal nevus). This pictorial review provides a practical approach to the imaging work-up of these anomalies with a focus on ocular US as the first imaging modality and additional use of CT and/or MRI for the evaluation of intracranial abnormalities. The characteristic imaging features of the non-neoplastic mimics of retinoblastoma, such as persistent fetal vasculature and Coats disease, are also highlighted.
Topics: Child; Child, Preschool; Female; Humans; Infant; Infant, Newborn; Diagnosis, Differential; Diagnostic Imaging; Eye Diseases; Orbital Diseases
PubMed: 38321238
DOI: 10.1007/s00247-024-05869-w -
Die Ophthalmologie Feb 2023The possible complications of anophthalmic eye sockets can occur due to many different pathomechanisms. A differentiation is made between allergic, infectious,... (Review)
Review
The possible complications of anophthalmic eye sockets can occur due to many different pathomechanisms. A differentiation is made between allergic, infectious, inflammatory or mechanical causes. This article gives an overview on the different etiologies of socket complications with their pathophysiology and treatment options.
Topics: Humans; Orbit; Aftercare; Eye Enucleation; Orbital Implants; Anophthalmos; Inflammation
PubMed: 36705680
DOI: 10.1007/s00347-022-01800-6