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Orbit (Amsterdam, Netherlands) Aug 2022Management of pediatric anophthalmia and resultant micro-orbitism is challenging. The efficacy and safety of treatment methods vary with age as bony changes grow... (Review)
Review
Management of pediatric anophthalmia and resultant micro-orbitism is challenging. The efficacy and safety of treatment methods vary with age as bony changes grow recalcitrant to implants in those at skeletal maturity and osteotomies become technically challenging following frontal sinus pneumatization. This study aims to review methods for managing micro-orbitism and develop an age-based treatment approach. A systematic literature review was conducted. Data were screened and extracted by two investigators and relevant English-language primary-literature was analyzed. Information on sample-size, number of orbits, intervention, age, complications, and prosthetic retention was obtained. Representative case reports are presented, in addition. Nineteen studies met inclusion: 294 orbits in 266 patients were treated. Two studies reported distraction-osteogenesis. Two studies utilized bone grafting. Osteotomies were performed in 41 patients from three studies. Use of solid implants was detailed in two studies. Three studies described osmotic implant. Four studies described inflatable implants. Other techniques were described by three of the included studies, two of which utilized dermis-fat grafting. All but one study were observational case reports or case series. Across all studies regardless of surgical technique, risk of bias and heterogeneity was high due to attrition bias and selective outcomes-reporting. Selection of therapy should be tailored to skeletal-age to optimize outcomes; those 0-4 yrs are managed with dermis-fat grafts, 5-7 yrs managed with implants, and 8+ yrs managed with osteotomies. For those 8+ yrs with aerated frontal sinuses or insufficient bone stock, we propose onlay camouflage prosthetics which improve projection, increase orbital volume, and avoid risk for frontal sinus injury.
Topics: Algorithms; Anophthalmos; Bone Transplantation; Child; Frontal Sinus; Humans; Orbit
PubMed: 35298326
DOI: 10.1080/01676830.2022.2043391 -
Ophthalmic Plastic and Reconstructive...To compare the use of sizing implants versus intraoperative volume measurements for individualization of enucleation implant size, and to identify preoperative factors... (Observational Study)
Observational Study
PURPOSE
To compare the use of sizing implants versus intraoperative volume measurements for individualization of enucleation implant size, and to identify preoperative factors affecting the choice of implant.
METHODS
In this retrospective observational cohort study, 2 implant sizing methods were compared using clinical records and photographs in 139 patients who underwent enucleation between 2007 and 2016.
RESULTS
There was no difference in mean implant (p = 0.6562) or prosthetic (p = 0.1990) enophthalmos between the 2 methods, or when comparing patients with and without conjunctival-Tenons fibrosis. The incidence and severity of superior sulcus deformity was similar between the methods (p = 0.6394). Preoperative phthisis (p < 0.0001) and intraoperative conjunctival-Tenons fibrosis (p = 0.0010) were more common in the sizing implant group. Among all study patients, mean implant size was larger in males (21.3 mm, n = 80) than females (20.7 mm, n = 59) (p = 0.0027). Implants >20 mm were more frequently inserted in patients with a wider Hertel exophthalmometry base (80% of males >95 mm; 77% of females >97 mm). Approximately 21.0% of patients demonstrated ≥8 mm of implant enophthalmos, suggesting an undersized implant. The authors estimate that 11% of patients could have received a sphere larger than 22 mm.
CONCLUSIONS
Individualization of enucleation implant size can reduce the incidence of anophthalmic socket syndrome. The empirical use of sizing implants provided similar results as intraoperative volumetric measurements, when evaluated by postoperative superior sulcus depth and prosthetic or implant enophthalmos. Preoperative exophthalmometry may facilitate selection of implant size. Preexisting conjunctival-Tenon fascial fibrosis often did not limit implant size and was not associated with a higher prevalence of wound breakdown or implant exposure.
Topics: Anophthalmos; Eye Enucleation; Female; Humans; Male; Orbital Implants; Prosthesis Implantation; Retrospective Studies
PubMed: 33237669
DOI: 10.1097/IOP.0000000000001884 -
Graefe's Archive For Clinical and... Mar 2023To compare tear film osmolarity (TFO) values and matrix metalloproteinase 9 (MMP-9) levels between anophthalmic sockets and healthy fellow eyes and to assess the use of...
PURPOSE
To compare tear film osmolarity (TFO) values and matrix metalloproteinase 9 (MMP-9) levels between anophthalmic sockets and healthy fellow eyes and to assess the use of the MMP-9 and TFO as objective biomarkers for the dry anophthalmic socket syndrome (DASS).
METHODS
In this prospective single-center study, the anophthalmic sockets and healthy fellow eyes of 98 unilateral anophthalmic patients were assessed using the ocular surface disease index (OSDI) questionnaire, InflammaDry® MMP-9 point-of-care immunoassay, TFO with TearLab™ Osmolarity System, and clinical conjunctival inflammation. MMP-9 concentration and conjunctival inflammation were graded semi-quantitatively. Differences between anophthalmic sockets and the healthy fellow eyes for OSDI scores, MMP-9, TFO values, clinical conjunctival inflammation, and eyelid abnormalities as well as the correlation between these factors and demographic data were evaluated.
RESULTS
Patients had significantly higher OSDI, MMP-9, and TFO values, as well as higher conjunctival inflammation on the anophthalmic side, compared to the healthy side (p ≤ 0.002, respectively). For anophthalmic sockets, there was a significant positive correlation between OSDI scores and TFO values (p = 0.007), between the grade of posterior blepharitis and TFO values (p = 0.026), and between the conjunctival inflammation and MMP-9 values (p < 0.001), as well as between MMP-9 levels and time since eye loss (p = 0.004).
CONCLUSIONS
Measuring MMP-9 and TFO may be helpful tools as efficient, quantifiable biomarkers, disease course parameters, or predictors for treatment response in the clinical management of patients with DASS or future therapy studies. Ophthalmologists should consider the updated diagnosis criteria including TFO and the definition for DASS proposed in this study.
Topics: Humans; Matrix Metalloproteinase 9; Prospective Studies; Point-of-Care Systems; Dry Eye Syndromes; Tears; Conjunctivitis; Immunoassay; Anophthalmos; Osmolar Concentration; Biomarkers; Inflammation
PubMed: 36357674
DOI: 10.1007/s00417-022-05895-0 -
Graefe's Archive For Clinical and... Sep 2019To investigate mucoid discharge and the inflammatory response of anophthalmic sockets to cryolite glass prosthetic eye wear.
PURPOSE
To investigate mucoid discharge and the inflammatory response of anophthalmic sockets to cryolite glass prosthetic eye wear.
PATIENTS AND METHODS
A total of 101 cryolite glass prosthetic eye wearers used visual analog scales (0-10) to measure frequency, color, volume, and viscosity of mucoid discharge associated with their prosthesis. Standardized photographs of the conjunctiva of their anophthalmic sockets were taken and conjunctival inflammation was semi-quantitatively graded (0-4). All characteristics of discharge and conjunctival inflammation were correlated to eye loss cause, hand washing behavior, and cleaning regimes as explanatory variables.
RESULTS
Mean mucoid discharge characteristics (0-10 scale) were frequency 5.3 ± 2.8, color 4.8 ± 3.2, volume 4.9 ± 3.0, and viscosity 5.1 ± 3.2. The mean conjunctival inflammation score (0-4 scale) was 2.1 ± 1.0. There was a positive correlation between the grade of conjunctival inflammation and the frequency (p = 0.018), color (p = 0.001), volume (p = 0.003), and the viscosity of mucoid discharge (p = 0.005). More conjunctival inflammation was associated with higher frequency of cleaning (p < 0.001) and lower frequency of hand washing before removal (p = 0.001). Higher frequency, color, volume, and viscosity of discharge were associated with higher frequency of cleaning (p ≤ 0.001).
CONCLUSIONS
Discharge severity associated with prosthetic eye wear was positively correlated with more conjunctival inflammation, higher cleaning frequency, and less hand washing before handling. The results suggest that cryolite glass eyes should not be removed daily for cleaning and that further research should be undertaken to develop a standardized treatment protocol for managing inflammation and mucoid discharge. This protocol would advise hand washing before handling cryolite glass eyes and recommend a minimum period of wear between cleaning sessions.
Topics: Adolescent; Adult; Aged; Aged, 80 and over; Anophthalmos; Conjunctivitis; Eye Enucleation; Eye, Artificial; Female; Humans; Male; Middle Aged; Patient Satisfaction; Prosthesis Design; Sodium Fluoride; Surveys and Questionnaires; Young Adult
PubMed: 31203520
DOI: 10.1007/s00417-019-04395-y -
European Journal of Human Genetics :... Oct 2023Biallelic pathogenic variants in ALDH1A3 are responsible for approximately 11% of recessively inherited cases of severe developmental eye anomalies. Some individuals can...
Biallelic pathogenic variants in ALDH1A3 are responsible for approximately 11% of recessively inherited cases of severe developmental eye anomalies. Some individuals can display variable neurodevelopmental features, but the relationship to the ALDH1A3 variants remains unclear. Here, we describe seven unrelated families with biallelic pathogenic ALDH1A3 variants: four compound heterozygous and three homozygous. All affected individuals had bilateral anophthalmia/microphthalmia (A/M), three with additional intellectual or developmental delay, one with autism and seizures and three with facial dysmorphic features. This study confirms that individuals with biallelic pathogenic ALDH1A3 variants consistently manifest A/M, but additionally display neurodevelopmental features with significant intra- and interfamilial variability. Furthermore, we describe the first case with cataract and highlight the importance of screening ALDH1A3 variants in nonconsanguineous families with A/M.
Topics: Humans; Microphthalmos; Anophthalmos; Mutation; Aldehyde Oxidoreductases; Eye Abnormalities; Phenotype
PubMed: 36997679
DOI: 10.1038/s41431-023-01342-8 -
Journal of Prosthodontics : Official... Jun 2021This prospective study evaluated and correlated the impact of ocular prostheses on quality of life and stress with socioeconomic level and clinical characteristics. The... (Clinical Trial)
Clinical Trial
PURPOSE
This prospective study evaluated and correlated the impact of ocular prostheses on quality of life and stress with socioeconomic level and clinical characteristics. The clinical difficulties and perceptions of patients after ocular rehabilitation were evaluated.
MATERIALS AND METHODS
Anophthalmic patients (at least 18 years of age) who were not users of ocular prostheses were recruited. The Medical Outcomes Short-Form Health Survey (SF-36) and Perceived Stress Scale (PSS-10) questionnaires were administered before and after 3 and 6 months of prosthesis installation. Clinical characteristics, difficulties, and perceptions were evaluated by quantitative and descriptive analysis (7 days, 3 months, 6 months). Data were analyzed by the Friedman test and Pearson Correlation test (α = 0.05).
RESULTS
The final sample consisted of 26 patients. Quality of life showed improvement in the "Bodily Pain" and "General Health" domains. Wearing the prosthesis did not influence perceived stress. The clinical evaluation showed clinical discharge over 6 months and presence of pain only at 7 days. A weak correlation occurred between sociodemographic characteristics and the categories "Role-Physical" (r = 0.423) and "General Health" (r = 0.494); cause of anophthalmia and "Role-Physical" (r = -0.471); and type of surgery and "General Health" (r = -0.432).
CONCLUSIONS
According to the results of this study, the provision of ocular prostheses showed positive influence in 2 domains of quality of life and weak correlations with socioeconomic level, type of surgery, and cause of loss. Ocular rehabilitation did not influence stress. The use and care of the prostheses did not affect tissue inflammation, but the discharge was continuous.
Topics: Anophthalmos; Dental Implants; Eye, Artificial; Humans; Prospective Studies; Quality of Life; Stress, Psychological; Surveys and Questionnaires
PubMed: 33464687
DOI: 10.1111/jopr.13332 -
Eye (London, England) Dec 2021To evaluate morphological alterations of meibomian glands (MGs) in the dry anophthalmic socket syndrome (DASS).
PURPOSE
To evaluate morphological alterations of meibomian glands (MGs) in the dry anophthalmic socket syndrome (DASS).
METHODS
Fifteen unilateral anophthalmic patients wearing cryolite glass prosthetic eyes were enrolled. All patients with clinical blepharitis or other significant eyelid abnormalities were excluded. In vivo laser scanning confocal microscopy (LSCM) of the MGs in the lower eyelids both on the anophthalmic side and the healthy fellow eye was performed to quantify acinar unit density, acinar unit diameter, acinar unit area, meibum secretion reflectivity, the inhomogeneous appearance of the glandular interstice, and inhomogeneous appearance of the acinar walls.
RESULTS
The lower eyelids of the anophthalmic sockets revealed a significant reduction of the acinar unit density (p = 0.003) as well as a significantly more inhomogeneous appearance of the periglandular interstices (p = 0.018) and the acinar unit walls (p = 0.015) than the healthy fellow eyelid. However, there were no significant differences regarding the acinar unit diameter, acinar unit area, and meibum secretion reflectivity of the MGs on the anophthalmic side compared to the healthy fellow eyelid (p ≥ 0.05, respectively).
CONCLUSIONS
The eyelids of anophthalmic sockets without clinical blepharitis demonstrate a reduced density of MG acinar units and a more inhomogeneous appearance of the periglandular interstices and the acinar unit walls. This can cause meibomian gland dysfunction contributing to DASS and suggests early treatment of these symptomatic patients, even in the clinical absence of any blepharitis signs.
Topics: Anophthalmos; Blepharitis; Eyelid Diseases; Humans; Meibomian Glands; Microscopy, Confocal; Syndrome; Tears
PubMed: 33564141
DOI: 10.1038/s41433-021-01426-z -
American Journal of Medical Genetics.... Feb 2023
Review
Topics: Humans; Microphthalmos; Waardenburg Syndrome; Acyltransferases; Membrane Proteins
PubMed: 36401583
DOI: 10.1002/ajmg.a.63048 -
Current Eye Research Dec 2020
Topics: Anophthalmos; Eye Enucleation; Humans; Orbit; Regeneration
PubMed: 32408773
DOI: 10.1080/02713683.2020.1770294 -
The British Journal of Ophthalmology Jun 2023Microphthalmia and anophthalmia are rare conditions, which represent ocular maldevelopment; both may be associated with orbital cysts. Current literature recommends...
BACKGROUND/AIMS
Microphthalmia and anophthalmia are rare conditions, which represent ocular maldevelopment; both may be associated with orbital cysts. Current literature recommends retention to stimulate orbital growth during socket rehabilitation but does not illustrate their potential to deform the periocular tissues. This study aims to illustrate the long-term outcomes when other elements, such as forniceal and lid development, are also considered when formulating bespoke treatment plans for patients.
METHODS
Retrospective case series of 78 patients attending a single prosthetics clinic between 1988 and 2020. Clinical and surgical notes, radiological imaging, clinical photographs and patient/doctor satisfaction questionnaires were used to report patient outcomes and natural history data.
RESULTS
89 sockets of 78 patients (11 bilateral) were included; average age of presentation being 2.8 years (9 days to 29.5 years). Cysts were clinically detected (48%) or were incidental findings (52%). The mean follow-up time was 7.2 years (6 months to 28 years). Cysts in 46% of sockets underwent surgical excision while the remainder were retained. Satisfaction surveys were obtained for 75 patients, with cosmetic outcomes rated as 'excellent' or 'good' in 90% of cases by physicians and 97% of cases by patients or guardians.
CONCLUSION
The favourable long-term outcomes in this study have resulted from bespoke plans which considered periocular tissue development, regional orbital growth and orbital volume replacement. The authors contemplate cyst excision if the prosthetic fitting or retention is impeded by the cyst as this often heralds the increased risk of long-term periocular distortion.
Topics: Humans; Child, Preschool; Anophthalmos; Microphthalmos; Retrospective Studies; Eye; Cysts; Orbit
PubMed: 35101939
DOI: 10.1136/bjophthalmol-2020-318089