-
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 -
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 -
Deutsches Arzteblatt International Mar 2010Good vision depends on the normal anatomy and function of the eyelids and orbital structures. The goals of periocular ophthalmic plastic surgery are the anatomical and... (Review)
Review
BACKGROUND
Good vision depends on the normal anatomy and function of the eyelids and orbital structures. The goals of periocular ophthalmic plastic surgery are the anatomical and functional preservation and restoration of the lids, orbits, and periorbital structures when they are affected by congenital or acquired malpositions, defects and mass lesions. In this region, functional and esthetic considerations are closely linked.
METHOD
This review is based on selected articles retrieved by a PubMed search, the guidelines of the German Ophthalmologists' Association (Bundesverband der Augenärzte, BVA) and German Ophthalmological Society (Deutsche Ophthalmologische Gesellschaft, DOG), and the authors' own clinical and scientific experience.
RESULTS
The surgical correction of eyelid malpositions is based on the restoration of normal anatomy with attention to function. Eyelids are reconstructed with a combination of local flaps and free grafts, preferably from the periorbital structures. Orbital procedures are usually performed in specialized centers, by multidisciplinary surgical teams if necessary. The surgical approaches are becoming ever smaller and cosmetically less noticeable. For patients with acquired anophthalmos, the use of orbital implants is essential for optimal fitting of the prosthesis.
CONCLUSION
Modern periocular plastic surgery exploits an extensive range of specialized surgical techniques to treat a wide variety of abnormalities and diseases in this region. The success of such procedures depends on thorough knowledge of the complex anatomy and physiology of these structures as well as on the surgeon's expertise in microsurgical techniques.
Topics: Humans; Minimally Invasive Surgical Procedures; Ophthalmologic Surgical Procedures; Plastic Surgery Procedures
PubMed: 20305763
DOI: 10.3238/arztebl.2010.0141 -
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 -
Orphanet Journal of Rare Diseases Nov 2007Anophthalmia and microphthalmia describe, respectively, the absence of an eye and the presence of a small eye within the orbit. The combined birth prevalence of these... (Review)
Review
Anophthalmia and microphthalmia describe, respectively, the absence of an eye and the presence of a small eye within the orbit. The combined birth prevalence of these conditions is up to 30 per 100,000 population, with microphthalmia reported in up to 11% of blind children. High-resolution cranial imaging, post-mortem examination and genetic studies suggest that these conditions represent a phenotypic continuum. Both anophthalmia and microphthalmia may occur in isolation or as part of a syndrome, as in one-third of cases. Anophthalmia/microphthalmia have complex aetiology with chromosomal, monogenic and environmental causes identified. Chromosomal duplications, deletions and translocations are implicated. Of monogenic causes only SOX2 has been identified as a major causative gene. Other linked genes include PAX6, OTX2, CHX10 and RAX. SOX2 and PAX6 mutations may act through causing lens induction failure. FOXE3 mutations, associated with lens agenesis, have been observed in a few microphthalmic patients. OTX2, CHX10 and RAX have retinal expression and may result in anophthalmia/microphthalmia through failure of retinal differentiation. Environmental factors also play a contributory role. The strongest evidence appears to be with gestational-acquired infections, but may also include maternal vitamin A deficiency, exposure to X-rays, solvent misuse and thalidomide exposure. Diagnosis can be made pre- and post-natally using a combination of clinical features, imaging (ultrasonography and CT/MR scanning) and genetic analysis. Genetic counselling can be challenging due to the extensive range of genes responsible and wide variation in phenotypic expression. Appropriate counselling is indicated if the mode of inheritance can be identified. Differential diagnoses include cryptophthalmos, cyclopia and synophthalmia, and congenital cystic eye. Patients are often managed within multi-disciplinary teams consisting of ophthalmologists, paediatricians and/or clinical geneticists, especially for syndromic cases. Treatment is directed towards maximising existing vision and improving cosmesis through simultaneous stimulation of both soft tissue and bony orbital growth. Mild to moderate microphthalmia is managed conservatively with conformers. Severe microphthalmia and anophthalmia rely upon additional remodelling strategies of endo-orbital volume replacement (with implants, expanders and dermis-fat grafts) and soft tissue reconstruction. The potential for visual development in microphthalmic patients is dependent upon retinal development and other ocular characteristics.
Topics: Anophthalmos; HMGB Proteins; Humans; Magnetic Resonance Imaging; Microphthalmos; Mutation; Prevalence; SOXB1 Transcription Factors; Transcription Factors; Vitamin A Deficiency
PubMed: 18039390
DOI: 10.1186/1750-1172-2-47 -
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 -
Molecular Genetics and Metabolism Dec 2011Anophthalmia and microphthalmia (A/M) are significant eye defects because they can have profound effects on visual acuity. A/M is associated with non-ocular... (Review)
Review
Anophthalmia and microphthalmia (A/M) are significant eye defects because they can have profound effects on visual acuity. A/M is associated with non-ocular abnormalities in an estimated 33-95% of cases and around 25% of patients have an underlying genetic syndrome that is diagnosable. Syndrome recognition is important for targeted molecular genetic testing, prognosis and for counseling regarding recurrence risks. This review provides clinical and molecular information for several of the commonest syndromes associated with A/M: Anophthalmia-Esophageal-Genital syndrome, caused by SOX2 mutations, Anophthalmia and pituitary abnormalities caused by OTX2 mutations, Matthew-Wood syndrome caused by STRA6 mutations, oculofaciocardiodental syndrome and Lenz microphthalmia caused by BCOR mutations, Microphthalmia Linear Skin pigmentation syndrome caused by HCCS mutations, Anophthalmia, pituitary abnormalities, polysyndactyly caused by BMP4 mutations and Waardenburg anophthalmia caused by mutations in SMOC1. In addition, we briefly discuss the ocular and extraocular phenotypes associated with several other important eye developmental genes, including GDF6, VSX2, RAX, SHH, SIX6 and PAX6.
Topics: Abnormalities, Multiple; Animals; Anophthalmos; Eye; Genes, Developmental; Genetic Association Studies; Humans; Microphthalmos; Mutation; Phenotype; Syndrome
PubMed: 22005280
DOI: 10.1016/j.ymgme.2011.09.029