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European Journal of Ophthalmology Mar 2021Bilateral Tessier cleft types 3 and 4 are rare and commonly involve the lacrimal drainage system owing to their anatomical location. Such clefts commonly present with...
Bilateral Tessier cleft types 3 and 4 are rare and commonly involve the lacrimal drainage system owing to their anatomical location. Such clefts commonly present with associated ocular anomalies and include colobomatous eyelids, hypertelorism, microphthalmia, punctal or canalicular agenesis, and nasolacrimal duct obstruction or exstrophy. The current report presents an 18-month-old baby with bilateral Tessier cleft 3 with a unilateral anophthalmos, symmetrical eyelid colobomas, and lacrimal drainage anomalies. The lacrimal anomalies noted include small lacrimal sac with inferior canaliculus on the right side and upper and lower punctal and canalicular agenesis on the left side. Computed tomographic dacryocystography demonstrated unilateral lacrimal sac and bilateral maldevelopment of the bony nasolacrimal duct.
Topics: Anophthalmos; Cleft Lip; Coloboma; Dacryocystorhinostomy; Eyelids; Humans; Infant; Lacrimal Apparatus Diseases; Male; Maxillofacial Abnormalities; Nasolacrimal Duct; Plastic Surgery Procedures; Tomography, X-Ray Computed
PubMed: 31771345
DOI: 10.1177/1120672119891475 -
Ophthalmic Plastic and Reconstructive...To describe the incidence of anophthalmic ptosis, identify clinical factors associated with its development, and evaluate the effects of enucleation on eyelid mechanics. (Observational Study)
Observational Study
PURPOSE
To describe the incidence of anophthalmic ptosis, identify clinical factors associated with its development, and evaluate the effects of enucleation on eyelid mechanics.
METHODS
In this observational cohort study, measurements and photographs were reviewed in 139 patients who underwent enucleation between 2007 and 2016. Patient demographics, pre- and postoperative eyelid measurements, and exophthalmometry were used to assess the incidence of ptosis and effects of surgery on eyelid function.
RESULTS
Preoperative ptosis was common and more often present in patients with enophthalmos (p = 0.0305) or reactive blepharospasm (p < 0.0001). The incidence of new-onset ptosis and improvement of preexisting ptosis following enucleation were similar (40%). Surgical repair was performed in 7% of patients with ptosis. Contralateral levator function declined with age and was positively correlated with exophthalmometry (p < 0.0001). Anophthalmic levator function was greater with increased anterior projection of the implant (p < 0.0001) and prosthesis (p < 0.0001). Patients with larger implants had improved levator function, with (p = 0.0065) and without (p = 0.0007) the prosthesis. Superior sulcus deepening was associated with decreased levator activity, but not margin-reflex distance.
CONCLUSIONS
Preoperative ptosis was common, and often related to reactive blepharospasm or enophthalmos. Levator function declined with age, and correlated to greater anterior projection of the implant and prosthesis following enucleation. The surgeon can counsel patients regarding the similar likelihood (40%) of preoperative ptosis improving and new ptosis developing after enucleation. The primary factor the surgeon can modify to improve postoperative eyelid function is to maximize implant size, which is associated with greater levator activity.
Topics: Anophthalmos; Blepharoplasty; Blepharoptosis; Eyelids; Humans; Oculomotor Muscles; Prosthesis Implantation; Retrospective Studies
PubMed: 32852373
DOI: 10.1097/IOP.0000000000001823 -
Canadian Journal of Ophthalmology.... Jun 2023
Topics: Humans; Anophthalmos; Orbit; Adenocarcinoma; Eye Enucleation; Orbital Implants
PubMed: 36435208
DOI: 10.1016/j.jcjo.2022.11.007 -
BMJ Case Reports Aug 2021
Topics: Anophthalmos; Female; Humans; Pregnancy; Prenatal Diagnosis; Ultrasonography, Prenatal
PubMed: 34404668
DOI: 10.1136/bcr-2021-244684 -
Scientific Reports Jul 2021The human ocular surface hosts a paucibacterial resident microbiome and virome. The factors contributing to homeostasis of this mucosal community are presently unknown....
The human ocular surface hosts a paucibacterial resident microbiome and virome. The factors contributing to homeostasis of this mucosal community are presently unknown. To determine the impact of ocular enucleation and prosthesis placement on the ocular surface microbiome, we sampled conjunctival swabs from 20 anophthalmic and 20 fellow-eye intact conjunctiva. DNA was extracted and subjected to quantitative 16S rDNA PCR, biome representational karyotyping (BRiSK), and quantitative PCR (qPCR) confirmation of specific organisms. 16S ribosomal qPCR revealed equivalent bacterial loads between conditions. Biome representational in silico karyotyping (BRiSK) demonstrated comparable bacterial fauna between anophthalmic and intact conjunctiva. Both torque teno virus and Merkel cell polyoma virus (MCPyV) were detected frequently in healthy and anophthalmic conjunctiva. By qPCR, MCPyV was detected in 19/20 anophthalmic samples compared with 5/20 fellow eyes. MCPyV copy number averaged 891 copies/ng in anophthalmic conjunctiva compared with 193 copies/ng in fellow eyes (p < 0.001). These results suggest that enucleation and prosthesis placement affect the ocular surface flora, particularly for the resident virome. As MCPyV has been shown to be the etiologic cause of Merkel cell carcinoma, understanding the mechanisms by which the ocular surface regulates this virus may have clinical importance.
Topics: Anophthalmos; Bacteria; Conjunctiva; DNA, Ribosomal; Female; High-Throughput Nucleotide Sequencing; Humans; Male; Merkel Cells; Merkel cell polyomavirus; Middle Aged; Torque teno virus
PubMed: 34321490
DOI: 10.1038/s41598-021-92642-w -
Korean Journal of Ophthalmology : KJO Feb 2021We sought to evaluate the safety and effectiveness of patient-specific ocular prostheses produced by three-dimensional (3D) printing and the sublimation technique. A...
PURPOSE
We sought to evaluate the safety and effectiveness of patient-specific ocular prostheses produced by three-dimensional (3D) printing and the sublimation technique. A comparison with prostheses produced using manual manufacturing methods was then performed.
METHODS
To confirm the biological and physiochemical safety, cytotoxicity, systemic acute toxicity, intradermal reaction, and skin sensitization tests were conducted according to the International Organization for Standardization guidelines. The compressive strength of the prostheses was also tested. Further, a case series of three patients who wore the 3D printed prostheses for more than eight hours daily for 4 weeks was executed. Self-assessments by these individuals using a questionnaire and safety evaluations focusing on the occurrence of conjunctival inflammation or allergic reactions according to the Cornea and Contact Lens Research Unit criteria by slit-lamp examination and similarity assessment were completed.
RESULTS
The 3D printed ocular prostheses met the necessary qualifications per the biological and physiochemical safety tests, showing the absence of cytotoxicity, acute systemic toxicity, intradermal reactivity, and skin-sensitizing potency. Also, there was no difference in strength test results between previous ocular prostheses and the 3D printed ones. Self-assessment by the patients yielded satisfactory results, with no significant difference in the level of satisfaction reported for the 3D printed and previous handmade ocular prostheses. The 3D printed prosthesis did not trigger any side effects in the conjunctival sac and showed similar objective findings with respect to the color of the iris, sclera, and vessel patterns.
CONCLUSIONS
Our study confirms the biologic and physiochemical safety of 3D-printed ocular prostheses created using computer-aided design technology and a sublimation technique. The patients' questionnaires and the judgment of the ophthalmologists/ocularists showed that the 3D printed ocular prosthesis was acceptable in function and appearance through a case series report.
Topics: Computer-Aided Design; Eye, Artificial; Humans; Printing, Three-Dimensional; Prosthesis Design; Prosthesis Implantation
PubMed: 33307623
DOI: 10.3341/kjo.2020.0125 -
Birth Defects Research Feb 2023Nausea and vomiting of pregnancy (NVP) occurs in approximately 70% of pregnant people. Treatments include pharmacologic and herbal/natural products. Research on the...
BACKGROUND
Nausea and vomiting of pregnancy (NVP) occurs in approximately 70% of pregnant people. Treatments include pharmacologic and herbal/natural products. Research on the associations between NVP and its treatments and birth defects is limited.
METHODS
We used data from the case-control National Birth Defects Prevention Study (1997-2011) to examine whether first-trimester NVP or its specific treatments were associated with 37 major birth defects. Odds ratios (aOR) and 95% confidence intervals (CIs) were adjusted for sociodemographic and reproductive factors.
RESULTS
Mothers of 66.6% of 28,628 cases and 69.9% of 11,083 controls reported first-trimester NVP. Compared to no NVP, mothers with NVP had ≥10% reduction in risk of cardiac and noncardiac defects overall, and of 18 specific defects. Over-the-counter antiemetic use, compared to untreated NVP, was associated with ≥10% increase in risk for nine defect groups (heterotaxy, hypoplastic left heart syndrome [HLHS], aortic stenosis, cataracts, anophthalmos/microphthalmos, biliary atresia, transverse limb deficiency, omphalocele, and gastroschisis), whereas use of prescription antiemetics increased risk ≥10% for seven defect groups (tetralogy of Fallot, HLHS, spina bifida, anopthlamos/microphthalmos, cleft palate, craniosynostosis, and diaphragmatic hernia). We observed increased risks for promethazine and tetralogy of Fallot (aOR: 1.49, 95% CI: 1.05-2.10), promethazine and craniosynostosis (1.44, 1.08-1.92), ondansetron and cleft palate (1.66, 1.18-2.31), pyridoxine and heterotaxy (3.91, 1.49-10.27), and pyridoxine and cataracts (2.57, 1.12-5.88).
CONCLUSIONS
NVP does not increase risks of birth defects. Our findings that some treatments for NVP increase risk of specific birth defects should be investigated further before clinical recommendations are made.
Topics: Pregnancy; Female; Humans; Cleft Palate; Promethazine; Microphthalmos; Pyridoxine; Tetralogy of Fallot; Vomiting; Nausea; Pregnancy Complications; Craniosynostoses
PubMed: 36168701
DOI: 10.1002/bdr2.2096 -
The Journal of Craniofacial Surgery Sep 2022Orbital dysplasia is caused by congenital microphthalmos, anophthalmos, or eye atrophy. Orbital volume growth is known to parallel ocular growth and the absence of an...
PURPOSE
Orbital dysplasia is caused by congenital microphthalmos, anophthalmos, or eye atrophy. Orbital volume growth is known to parallel ocular growth and the absence of an eye results in noticeable hemifacial deformity that affects patients' lives. The aim of this study was to observe the effects of injections of hyaluronic acid gel into the orbit combined with ocular prosthesis to treat orbital dysplasia.
METHODS
Three patients with orbital dysplasia who were 3 to 7 years old treated in our department. Each year, the hyaluronic acid gel was injected into each patient intraconal and extraconal posterior orbit and each wore an ocular prosthesis. The length of the palpebral fissure and orbital volume were measured before and after the injections.
RESULTS
A total of 9 injections were performed on 3 patients ages 7, 5, and 4 years old, respectively. The follow-up periods were 5, 5, and 2 years. The authors observed significant improvements in patient appearance. The length of the palpebral fissure and the volume of the orbit increased linearly with the increasing age, and there were no complications, such as intraorbital hemorrhage or local hyperplastic stimulation.
CONCLUSIONS
Orbital hyaluronic acid gel injection and combined with an ocular prosthesis is a safe, convenient, and effective treatment for orbital dysplasia.
Topics: Anophthalmos; Child; Child, Preschool; Enophthalmos; Eyelids; Humans; Hyaluronic Acid; Orbit
PubMed: 35765127
DOI: 10.1097/SCS.0000000000008393 -
Graefe's Archive For Clinical and... Feb 2021To systematize clinical variants of symblepharon and to analyze rehabilitation availability boundaries in patients with different forms of symblepharons.
PURPOSE
To systematize clinical variants of symblepharon and to analyze rehabilitation availability boundaries in patients with different forms of symblepharons.
METHODS
Retrospective analysis of clinical cases included 26 patients with local, subtotal, and total symblepharon (ankyloblepharon) with a normal or anophthalmic orbit. In all patients, symblepharon was operated using split- or full-thickness oral mucosal autografts and their fixation with U-shaped stitches and compression plates. Preoperatively and postoperatively, best-corrected visual acuity, IOP, extraocular motility, results of Schirmer I test, and tear break-up time with slit-lamp biomicroscopy were analyzed, as well as additional ultrasound and electrophysiological studies were performed in some cases. Follow-up period lasted from 1.5 to 6 years.
RESULTS
The proposed surgical technique using mucosal autografts in all patients allowed complete anatomical restoration of conjunctival fornices and cavity. It resulted in improvement of visual function in patients with local symblepharon, full restoration of ocular motility in patients with a presence of the eye and provided an opportunity to wear artificial eye in patients with anophthalmia. Nonetheless, loss of conjunctival Krause's and Wolfring lacrimal glands, goblet cells, meibomian glands, and limbal stem cells prevents from further optic keratoplasty in patients with total or subtotal symblepharon on potentially sighted eye.
CONCLUSION
The most difficult patients for visual rehabilitation were the ones with subtotal or total symblepharon (ankyloblepharon) on potentially sighted eye due to the loss of conjunctival goblet cells, meibomian glands, and limbal stem cells.
Topics: Autografts; Conjunctival Diseases; Eyelid Diseases; Humans; Mouth Mucosa; Retrospective Studies
PubMed: 33074375
DOI: 10.1007/s00417-020-04971-7 -
Journal of Medical Genetics Dec 2023The retinoic acid (RA) pathway plays a crucial role in both eye morphogenesis and the visual cycle. Individuals with monoallelic and biallelic pathogenic variants in...
BACKGROUND
The retinoic acid (RA) pathway plays a crucial role in both eye morphogenesis and the visual cycle. Individuals with monoallelic and biallelic pathogenic variants in (), encoding a serum retinol-specific transporter, display variable ocular phenotypes. Although few families have been reported worldwide, recessive inherited variants appear to be associated with retinal degeneration, while individuals with dominantly inherited variants manifest ocular development anomalies, mainly microphthalmia, anophthalmia and coloboma (MAC).
METHODS
We report here seven new families (13 patients) with isolated and syndromic MAC harbouring heterozygous variants, of whom we performed biochemical analyses.
RESULTS
For the first time, malformations that overlap the clinical spectrum of vitamin A deficiency are reported, providing a link with other RA disorders. Our data support two distinct phenotypes, depending on the nature and mode of inheritance of the variants: dominantly inherited, almost exclusively missense, associated with ocular malformations, in contrast to recessive, mainly truncating, associated with retinal degeneration. Moreover, we also confirm the skewed inheritance and impact of maternal genotypes on phenotypical expression in dominant forms, suggesting that maternal genetic status and content of diet during pregnancy may modify MAC occurrence and severity. Furthermore, we demonstrate that retinol-binding protein blood dosage in patients could provide a biological signature crucial for classifying variants. Finally, we propose a novel hypothesis to explain the mechanisms underlying the observed genotype-phenotype correlations in mutational spectrum.
CONCLUSION
Dominant missense variants in are associated with MAC of incomplete penetrance with maternal inheritance through a likely dominant-negative mechanism.
Topics: Pregnancy; Female; Humans; Retinal Degeneration; Microphthalmos; Anophthalmos; Tretinoin; Retinol-Binding Proteins; Retinol-Binding Proteins, Plasma
PubMed: 37586836
DOI: 10.1136/jmg-2023-109331