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Gaceta Medica de Mexico 2024
Topics: Humans; Microphthalmos; Anophthalmos
PubMed: 38753555
DOI: 10.24875/GMM.M24000852 -
BMC Ophthalmology Apr 2024Limited studies have reported surgical outcomes that are defined by strict criteria following grade 2 or 3 socket reconstruction using an oral mucosal graft (OMG). We...
BACKGROUND
Limited studies have reported surgical outcomes that are defined by strict criteria following grade 2 or 3 socket reconstruction using an oral mucosal graft (OMG). We aimed to determine factors influencing surgical outcomes of anophthalmic socket reconstruction using OMG in patients with grade 2 or 3 socket contractures.
METHODS
Thirty-seven patients who underwent socket reconstruction with autologous OMG between January 2007 and December 2017 were retrospectively analyzed. The successful outcome was defined as an eye prosthesis wearing without experiencing displacement and the absence of any re-operations or additional surgeries following socket reconstruction. Factors affecting surgical outcomes were identified using multivariate analysis.
RESULTS
A total of 15 male and 22 female patients (mean age: 40.2 ± 17.2 years) were included. The median duration of socket contracture was 21.5 years. Grade 2 and 3 socket contractures, based on Tawfik's classification, were reported in 20 and 17 patients, respectively. Twenty-eight and eight patients underwent socket reconstruction using OMG alone and OMG combined with a hard palate graft, respectively. The success rates of grades 2 and 3 socket contracture reconstruction were 80.0% and 52.9%, respectively. Multivariate analysis demonstrated that only grade 3 contractures were predictive of worse outcomes. At the final visit (mean follow-up: 6.3 years), 34 patients (91.9%) could wear their eye prostheses.
CONCLUSIONS
Socket reconstruction using autologous OMG can provide acceptable results in grade 2 and 3 contractures; however, satisfactory results were more significantly reported in grade 2 than in grade 3 contractures.
Topics: Humans; Male; Female; Young Adult; Adult; Middle Aged; Retrospective Studies; Orbital Implants; Plastic Surgery Procedures; Anophthalmos; Eye, Artificial; Contracture; Orbit
PubMed: 38575898
DOI: 10.1186/s12886-024-03301-3 -
Contact Lens & Anterior Eye : the... Jun 2024To assess which signs and eye prosthesis care habits are related to subjective discomfort in patients with dry anophthalmic socket syndrome (DASS), using standardized...
PURPOSE
To assess which signs and eye prosthesis care habits are related to subjective discomfort in patients with dry anophthalmic socket syndrome (DASS), using standardized tools from daily practice.
METHODS
62 anophthalmic sockets were compared with their healthy fellow eye using the Standard Patient Evaluation of Eye Dryness (SPEED) score. The correlations between SPEED questionnaire and the prosthesis care, discharge characteristics score, conjunctival inflammation score, meibomian gland dysfunction (MGD) scores and Schirmer I test were studied.
RESULT
The anophthalmic sockets group achieved a higher SPEED test score (p < 0.01), discharge score (p < 0.01), conjunctival inflammation score (p < 0.01), MGD scores (p < 0.01) and lower Schirmer I test (p < 0.01) compared with their fellow, healthy eye. Patients with a prosthesis replacement of one year or less, those with a current fit time of one year or less and those with a cleaning frequency above one month reported better SPEED, (p < 0.01), conjunctiva inflammation (p < 0.01) and MGD scores (p < 0.01).
CONCLUSION
Most anophthalmic patients suffer mild to severe DASS, which seems related to discharge, conjunctival inflammation and MGD. Moreover, certain practices related to the care of the prosthesis such as replacing with a frequency lower than yearly, current fitting time inferior to one year and a removing and cleaning regime above one month, were related to a lower discomfort sensation, conjunctival inflammation and MGD. Clinicians should consider the DASS when facing patients with anophthalmic socket and discomfort symptoms.
Topics: Humans; Female; Male; Eye, Artificial; Middle Aged; Dry Eye Syndromes; Adult; Anophthalmos; Aged; Surveys and Questionnaires; Orbital Implants; Aged, 80 and over; Young Adult
PubMed: 38521700
DOI: 10.1016/j.clae.2024.102149 -
Investigative Ophthalmology & Visual... Mar 2024A molecular diagnosis is only made in a subset of individuals with nonisolated microphthalmia, anophthalmia, and coloboma (MAC). This may be due to underutilization of...
PURPOSE
A molecular diagnosis is only made in a subset of individuals with nonisolated microphthalmia, anophthalmia, and coloboma (MAC). This may be due to underutilization of clinical (whole) exome sequencing (cES) and an incomplete understanding of the genes that cause MAC. The purpose of this study is to determine the efficacy of cES in cases of nonisolated MAC and to identify new MAC phenotypic expansions.
METHODS
We determined the efficacy of cES in 189 individuals with nonisolated MAC. We then used cES data, a validated machine learning algorithm, and previously published expression data, case reports, and animal models to determine which candidate genes were most likely to contribute to the development of MAC.
RESULTS
We found the efficacy of cES in nonisolated MAC to be between 32.3% (61/189) and 48.1% (91/189). Most genes affected in our cohort were not among genes currently screened in clinically available ophthalmologic gene panels. A subset of the genes implicated in our cohort had not been clearly associated with MAC. Our analyses revealed sufficient evidence to support low-penetrance MAC phenotypic expansions involving nine of these human disease genes.
CONCLUSIONS
We conclude that cES is an effective means of identifying a molecular diagnosis in individuals with nonisolated MAC and may identify putatively damaging variants that would be missed if only a clinically available ophthalmologic gene panel was obtained. Our data also suggest that deleterious variants in BRCA2, BRIP1, KAT6A, KAT6B, NSF, RAC1, SMARCA4, SMC1A, and TUBA1A can contribute to the development of MAC.
Topics: Animals; Humans; Anophthalmos; Coloboma; Exome Sequencing; Microphthalmos; Algorithms; DNA Helicases; Nuclear Proteins; Transcription Factors; Histone Acetyltransferases
PubMed: 38502138
DOI: 10.1167/iovs.65.3.25 -
BMC Oral Health Dec 2023This study aims to assess the influence of using 3D-printed acrylic resin versus conventional Poly-methyl methacrylate (PMMA) for fabricating ocular prostheses on the... (Randomized Controlled Trial)
Randomized Controlled Trial
BACKGROUND
This study aims to assess the influence of using 3D-printed acrylic resin versus conventional Poly-methyl methacrylate (PMMA) for fabricating ocular prostheses on the biofilm and microbial flora of anophthalmic socket.
METHODS
A randomized controlled trial was designed as a parallel group study. Participants were allocated randomly into two groups: the control group, which received conventionally fabricated ocular prostheses (CG, n = 11), and the test group, which received digitally 3D-printed ocular prostheses (DG, n = 11). Microbiological analysis was conducted before prosthesis insertion and three months after using the ocular prosthesis. Swab samples were inoculated on blood agar, MacConkey's agar, and Sabouraud's dextrose agar (SDA) for isolating Gram-positive, Gram-negative, and fungal organisms, respectively. Subsequently, the plates were incubated at 37 degrees Celsius for 48 h. Additionally, a validated questionnaire was used for subjective clinical evaluation, including parameters such as comfort level, socket discharge, lacrimation, and frequency of lubrication for each ocular prosthesis patient in both groups.
RESULTS
Test group (DG, n = 11) exhibited a positive, though statistically insignificant, difference (p > 0.001) in microbial growth when compared to the control group (CG, n = 11). A statistically significant difference was observed in comfort levels between the two groups, with more comfort level within group II (test group) patients. While parameters such as discharge amount, discharge location, lacrimation and lubrication frequency displayed statistically insignificant differences between the two groups, all parameters showed improved results after three months of prosthesis use.
CONCLUSIONS
The choice of ocular prosthesis fabrication technique did not yield a statistically significant difference in anophthalmic flora. However, the 3D-printed acrylic resin, as an artificial eye material, displayed potential advantages in reducing the colonization of opportunistic pathogens. All subjective clinical evaluation parameters exhibited enhanced outcomes after three months of prosthesis use, emphasizing the need for an adaptation period during which patients complains are alleviated. In comparison with PMMA, 3D-printed acrylic resin showcased a certain degree of anti-colonization ability against pathogenic bacteria, along with a significant level of patient comfort, suggesting its potential as a promising material for ocular prostheses.
TRIAL REGISTRATION
This parallel double-blinded RCT has been registered at ClinicalTrials.gov with identification number: NCT05584865, 18/10/2022.
Topics: Humans; Eye, Artificial; Polymethyl Methacrylate; Agar; Anophthalmos; Acrylic Resins; Printing, Three-Dimensional
PubMed: 38110937
DOI: 10.1186/s12903-023-03746-w -
European Journal of Medical Genetics Feb 2024Infants with anophthalmia and microphthalmia (an/microphthalmia) have often other associated congenital anomalies. The reported frequency and the types of these...
Infants with anophthalmia and microphthalmia (an/microphthalmia) have often other associated congenital anomalies. The reported frequency and the types of these associated anomalies vary between different studies. The purpose of this investigation was to assess the frequency and the types of associated anomalies among cases with an/microphthalmia in a geographically well defined population of northeastern France of 387,067 consecutive pregnancies from 1979 to 2007. Of the 98 infants with an/microphthalmia born during this period (prevalence at birth of 2.53 per 10,000), 88.8 % had associated anomalies. Cases with associated anomalies were divided into recognizable conditions (25 (25.5%) cases with chromosomal and 17 (17.3%) cases with non chromosomal conditions), and non recognizable conditions (45-45.9%- cases with multiple congenital anomalies -MCA). Trisomy 13 and trisomy 18 were the most frequent chromosomal abnormalities. Amniotic bands sequence, oculo-auriculo-vertebral spectrum, CHARGE syndrome and VACTERL association were most often present in recognizable non chromosomal conditions. Anomalies in the musculoskeletal, cardiovascular and central nervous systems were the most common other anomalies in cases with MCA and non recognizable conditions. However, given the limitation of the limited numbers of cases there should be urging caution in interpreting these results. In conclusion the frequency of associated anomalies in infants with anophthalmia and microphthalmia emphasizes the need for a thorough investigation of these cases. Routine screening for other anomalies especially musculoskeletal, cardiac and central nervous systems anomalies may need to be considered in infants with anophthalmia and microphthalmia, and referral of these cases for genetic counselling seems warranty.
Topics: Infant; Infant, Newborn; Pregnancy; Female; Humans; Anophthalmos; Microphthalmos; Heart Defects, Congenital; Limb Deformities, Congenital; CHARGE Syndrome; Prevalence
PubMed: 38110175
DOI: 10.1016/j.ejmg.2023.104892 -
International Journal of Reproductive... Aug 2023Sex determining region Y box transcription factor 2 (SOX2) mutations lead to bilateral anophthalmia with autosomal dominant human inheritance. SOX2 mutations could...
Prenatal diagnosis of Sex determining region Y -box transcription factor 2 anophthalmia syndrome caused by germline mosaicism using next-generation sequencing: A case report.
BACKGROUND
Sex determining region Y box transcription factor 2 (SOX2) mutations lead to bilateral anophthalmia with autosomal dominant human inheritance. SOX2 mutations could result in severe ocular phenotypes usually associated with variable systemic defects. Most patients described with SOX2 anophthalmia syndrome possessed de novo mutations in this gene.
CASE PRESENTATION
In this case report, we describe 2 brothers with mental retardation and bilateral anophthalmia caused due to SOX2 germline mosaicism in unaffected parents. Next-generation DNA sequencing was carried out to determine the family's possible cause of genetic mutation. Sanger sequencing was performed on the patients and their parents. Prenatal diagnosis was done in both pregnancies of the older brother's wife via chorionic villus sampling. A novel heterozygous pathogenic frameshift deletion variant (exon1:c.58_80del:p.G20fs) was identified in the gene, which was confirmed by Sanger sequencing in both affected brothers and did not exist in healthy parents, indicating germline mosaicism.
CONCLUSION
Most SOX2 mutations known look to arise de novo in probands and are diagnosed through anophthalmia or microphthalmia. Prenatal diagnosis should be offered to healthy parents with a child with SOX2 mutation every pregnancy.
PubMed: 37885978
DOI: 10.18502/ijrm.v21i8.14022 -
Genes Aug 2023Anophthalmia and microphthalmia (A/M) are among the most severe congenital developmental eye disorders. Despite the advancements in genome screening technologies, more...
Anophthalmia and microphthalmia (A/M) are among the most severe congenital developmental eye disorders. Despite the advancements in genome screening technologies, more than half of A/M patients do not receive a molecular diagnosis. We included seven consanguineous families affected with A/M from Pakistani cohort and an unknown molecular basis. Single gene testing of was performed, followed by genome sequencing for unsolved probands in order to establish a genetic diagnosis for these families. All seven families were provided with a genetic diagnosis. The identified variants were all homozygous, classified as (likely) pathogenic and present in an A/M-associated gene. Targeted sequencing revealed two previously reported pathogenic variants in four families. In the remaining families, genome sequencing revealed a known pathogenic variant, a novel 13bp deletion in , and one novel deep intronic splice variant in . An in vitro splice assay was performed for the splice variant which revealed a severe splicing defect. Our study confirmed the utility of genome sequencing as a diagnostic tool for A/M-affected individuals. Furthermore, the identification of a novel deep intronic pathogenic variant in highlights the role of non-coding variants in A/M-disorders and the value of genome sequencing for the identification of this type of variants.
Topics: Humans; Anophthalmos; Microphthalmos; Chromosome Mapping; Genetic Testing; Eye Abnormalities
PubMed: 37628625
DOI: 10.3390/genes14081573 -
International Journal of Molecular... Apr 2023Vision is likely our most prominent sense and a correct development of the eye is at its basis. Early eye development is tightly connected to the development of the...
Vision is likely our most prominent sense and a correct development of the eye is at its basis. Early eye development is tightly connected to the development of the forebrain. A single eye field and the prospective telencephalon are situated within the anterior neural plate (ANP). During normal development, both domains are split and consecutively, two optic vesicles and two telencephalic lobes emerge. If this process is hampered, the domains remain condensed at the midline. The resulting developmental disorder is termed holoprosencephaly (HPE). The typical ocular finding associated with intense forms of HPE is cyclopia. However, also anophthalmia and coloboma can be associated with HPE. Here, we report that a correct balance of Bone morphogenetic proteins (BMPs) and their antagonists are important for forebrain and eye field cleavage. Experimental induction of a BMP ligand results in a severe form of HPE showing anophthalmia. We identified a dysmorphic forebrain containing retinal progenitors, which we termed crypt-oculoid. Optic vesicle evagination is impaired due to a loss of and, consecutively, of . Our data further suggest that the subduction of prospective hypothalamic cells during neurulation and neural keel formation is affected by the induction of a BMP ligand.
Topics: Animals; Anophthalmos; Bone Morphogenetic Proteins; Gene Expression Regulation, Developmental; Holoprosencephaly; Ligands; Prospective Studies; Transcription Factors; Zebrafish
PubMed: 37175759
DOI: 10.3390/ijms24098052 -
Graefe's Archive For Clinical and... Sep 2023
Topics: Humans; Anophthalmos; Eye Enucleation; Orbital Implants; Orbit
PubMed: 37103625
DOI: 10.1007/s00417-023-06074-5