-
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 -
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 -
Acta Ophthalmologica May 2022To investigate medical conditions and systemic therapies associated with orbital implant exposure in patients with anophthalmic sockets.
PURPOSE
To investigate medical conditions and systemic therapies associated with orbital implant exposure in patients with anophthalmic sockets.
METHODS
Retrospective review of patients who underwent enucleation or evisceration at a single centre between January 1, 2008 and March 1, 2018. Medical comorbidities, including peripheral or coronary artery disease, rheumatologic conditions, diabetes, malignancy and history of smoking were recorded. Use of immunomodulatory and anticoagulation therapy at the time of eye removal was noted. Patients were divided into two groups-those with implant exposure and those without. Univariate and multivariate analysis was used to compare groups.
RESULTS
Two hundred and twenty-nine patients underwent eye removal surgery over a ten-year period. Implant exposure was seen in 20 (8.7%) patients. Univariate analysis revealed a statistically significant difference between groups in rates of smoking, malignancy, and immunomodulatory therapy at the time of surgery. A history of smoking (HR = 11.72; 95% CI: 2.95, 46.53; p = 0.0001) and immunomodulatory therapy (HR = 8.02; 95% CI: 1.96, 32.87; p = 0.004) were independent predictors of exposure. The probability of exposure was 81.2% when all three risk factors were present versus 4.4% when none were present (c-index = 0.737, 95% CI: 0.608, 0.865; p < 0.001). The model was a good fit to the data (Hosmer-Lemeshow goodness-of-fit test p = 0.475).
CONCLUSIONS
Smoking and immunomodulatory therapy were associated with orbital implant exposure in patients with anophthalmic sockets. This is the first report examining medical comorbidities in patients with orbital implant exposure. Understanding the pathophysiology of implant exposure is crucial to preoperative planning and postoperative care.
Topics: Anophthalmos; Eye Enucleation; Eye Evisceration; Humans; Orbital Implants; Postoperative Complications; Prosthesis Implantation; Retrospective Studies
PubMed: 34233090
DOI: 10.1111/aos.14973 -
Acta Ophthalmologica Dec 2020Congenital anophthalmia (A) and microphthalmia (M) are rare developmental defects, which could be isolated or syndromic. Our objective was to describe a cohort of...
PURPOSE
Congenital anophthalmia (A) and microphthalmia (M) are rare developmental defects, which could be isolated or syndromic. Our objective was to describe a cohort of children and young adults with A/M treated with ocular prosthesis, emphasizing clinical features, diagnosis, treatment, and follow-up.
METHODS
Eighteen individuals (10 female) with unilateral A (n = 3) and M (n = 15) with a mean age of 9.5 years (range 0.8-31.8) and treated with ocular prosthesis were included. Data on medical history, clinical examinations and management of ocular prosthesis were collected. Genetic screening with microarray and whole-exome sequencing targeting 121 A/M-related genes was performed.
RESULTS
A/M appeared isolated (seven cases) or as part of a syndromic condition (11 cases). In 4/16 patients, mutations were detected in TFAP2A, CHD7, FOXE3 and BCOR-genes. In one patient, a possibly causal microdeletion 10q11 was shown. Associated ocular anomalies such as cataract and cysts were found in 16 (89%) of the A/M eyes, and in nine (50%) ophthalmological findings were found in the fellow eyes. The median ages at which the conformer and ocular prosthesis first were initiated were 7.8 months and 1.5 years. 16/17 patients fulfilled satisfactory orbital growth and cosmetic results when treated with ocular prosthesis from an early age.
CONCLUSION
Based upon our findings, a multidisciplinary approach, including genetic assessment, is necessary to cover all aspects of A/M. Imaging, ultrasound and visual evoked potentials should be included. Early management is crucial for the outcome, in terms of non-ocular findings, vision in the fellow eye, and for facial cosmetic development.
Topics: Adolescent; Adult; Anophthalmos; Child; Child, Preschool; Disease Management; Female; Humans; Infant; Male; Microphthalmos; Phenotype; Prognosis; Young Adult
PubMed: 32436650
DOI: 10.1111/aos.14427 -
Secreted modular calcium-binding proteins in pathophysiological processes and embryonic development.Chinese Medical Journal Oct 2019Secreted modular calcium-binding proteins (SMOCs) are extracellular glycoproteins of the secreted protein, acidic, and rich in cysteine-related modular calcium-binding... (Review)
Review
OBJECTIVE
Secreted modular calcium-binding proteins (SMOCs) are extracellular glycoproteins of the secreted protein, acidic, and rich in cysteine-related modular calcium-binding protein family and include two isoforms, SMOC1 and SMOC2, in humans. Functionally, SMOCs bind to calcium for various cell functions. In this review, we provided a summary of the most recent advancements in and findings of SMOC1 and SMOC2 in development, homeostasis, and disease states.
DATA SOURCES
All publications in the PubMed database were searched and retrieved (up to July 24, 2019) using various combinations of keywords searching, including SMOC1, SMOC2, and diseases.
STUDY SELECTION
All original studies and review articles of SMOCs in human diseases and embryo development written in English were retrieved and included.
RESULTS
SMOC1 and SMOC2 regulate embryonic development, cell homeostasis, and disease pathophysiology. They play an important role in the regulation of cell cycle progression, cell attachment to the extracellular matrix, tissue fibrosis, calcification, angiogenesis, birth defects, and cancer development.
CONCLUSIONS
SMOC1 and SMOC2 are critical regulators of many cell biological processes and potential therapeutic targets for the control of human cancers and birth defects.
Topics: Calcification, Physiologic; Calcium-Binding Proteins; Cell Adhesion; Cell Cycle; Embryonic Development; Homeostasis; Humans; Inflammation; Neoplasms; Neovascularization, Physiologic; Osteonectin; Waardenburg Syndrome
PubMed: 31613820
DOI: 10.1097/CM9.0000000000000472 -
Indian Journal of Ophthalmology Jul 2021Anophthalmic sockets cause disfigurement that may result in emotional and social distress. The choice of procedure and implant is based upon the surgeon's experience.... (Observational Study)
Observational Study
PURPOSE
Anophthalmic sockets cause disfigurement that may result in emotional and social distress. The choice of procedure and implant is based upon the surgeon's experience. There remains no standardization of cosmetic result. We sought to identify quantifiable anatomical features and functional properties related to a successful cosmetic result in patients with ocular prosthesis and to determine correlations between self-reported and third-party assessment of cosmetic success.
METHODS
This was a prospective observational study, which included 107 adult patients (50.1% female; age 53.08 ± 18.64 years, range 18-89) with acquired anophthalmia following prosthesis fitting. Patients completed a self-assessment questionnaire on self-perception of body image and ocular properties. Three independent examiners assessed cosmetic score. Assessed variables included prosthesis movement, eyelid symmetry, prosthesis stability, and socket fullness.
RESULTS
The general cosmetic result was 8.1 ± 2.19 (on a predetermined scale of 1-10) as perceived by the patients and 7.2 ± 0.19 by the examiners. Interexaminer correlation was high for all variables (P < 0.05). A good cosmetic result was correlated with prosthesis movement (P = 0.02), eyelid symmetry (P = 0.001), and prosthesis stability (P = 0.01). Factors that correlated with a good cosmetic result on multivariate analysis were prosthesis movement (odds ratio [OR] 4.95, P = 0.004), eyelid symmetry (OR 4.51, P = 0.006), and socket fullness (OR 3.56, P = 0.005). No correlation was observed between patients' perceptions of the overall cosmetic result and those of the examiners.
CONCLUSION
The cosmetic result of prosthesis use among anophthalmic patients is generally good, as perceived by both patients and examiners. Good eyelid position and symmetry, orbital fullness, and prosthesis motility were associated with a better cosmetic result.
Topics: Adolescent; Adult; Aged; Aged, 80 and over; Anophthalmos; Eye Diseases; Eye, Artificial; Eyelids; Female; Humans; Male; Middle Aged; Orbital Implants; Prosthesis Implantation; Young Adult
PubMed: 34146048
DOI: 10.4103/ijo.IJO_2682_20 -
Gaceta Medica de Mexico 2017Congenital eye malformations are the second most common cause of childhood blindness and are originated by disruption of the normal process of eye development during... (Review)
Review
Congenital eye malformations are the second most common cause of childhood blindness and are originated by disruption of the normal process of eye development during embryonic stage. Their etiology is variable, although monogenic causes are of great importance as they have a high risk of familial recurrence. Included among the most severe congenital eye abnormalities are microphthalmia, defined by an abnormally small eye, and anophthalmia, characterized by congenital absence of ocular structures. The currrent knowledge of the genes involved in human microphthalmia and anophthalmia in humans is revised in this work.
Topics: Anophthalmos; Child; Eye Abnormalities; Gene Expression Regulation, Developmental; Humans; Microphthalmos
PubMed: 29414965
DOI: 10.24875/GMM.17002604