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.
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.
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.
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.
This parallel double-blinded RCT has been registered at ClinicalTrials.gov with identification number: NCT05584865, 18/10/2022.

SOX2 variants and deletions are a common cause of anophthalmia and microphthalmia (A/M). This article presents data from a cohort of patients with SOX2 variants, some of whom have been followed for 20+ years. Medical records from patients enrolled in the A/M Research Registry and carrying SOX2 variants were reviewed. Thirty-seven patients were identified, ranging in age from infant to 30 years old. Eye anomalies were bilateral in 30 patients (81.1%), unilateral in 5 (13.5%), and absent in 2 (5.4%). Intellectual disability was present in all with data available and ranged from mild to profound. Seizures were noted in 18 of 27 (66.6%) patients, usually with abnormal brain MRIs (10/15, 66.7%). Growth issues were reported in 14 of 21 patients (66.7%) and 14 of 19 (73.7%) had gonadotropin deficiency. Genitourinary anomalies were seen in 15 of 19 (78.9%) male patients and 5 of 15 (33.3%) female patients. Patients with SOX2 nucleotide variants, whole gene deletions or translocations are typically affected with bilateral or unilateral microphthalmia and anophthalmia. Other associated features include intellectual disability, seizures, brain anomalies, growth hormone deficiency, gonadotropin deficiency, and genitourinary anomalies. Recommendations for newly diagnosed patients with SOX2 variants include eye exams, MRI of the brain and orbits, endocrine and neurology examinations. Since the clinical spectrum associated with SOX2 alleles has expanded beyond the originally reported phenotypes, we propose a broader term, SOX2-associated disorder, for this condition.

To report associations with visual function and quality of life (QOL) in artificial eye wearers.
Multicentre, observational, cross-sectional, nationwide study, within the National Health Service England. Items were adopted from the National Eye Institute Visual Function Questionnaire, and incorporated in the National Artificial Eye Questionnaire (NAEQ). The NAEQ was completed by 951 respondents. Multiple regressions assessed associations between the QOL scores and the experiences of artificial eye wearers, their routine management, changes over time, baseline and demographic parameters.
Parameters predictive of a better QOL composite score included longer artificial eye wear (β = 0.18, p < 0.001), better appearance (β = 0.17, p < 0.001), better comfort (β = 0.14, p = 0.001), tumour-related anophthalmia (β = 0.13, p = 0.003), male gender (β = 0.13, p < 0.001), shorter period of adjustment to monocular vision (β = 0.12, p < 0.001) and use of soap for cleaning (β = 0.09, p = 0.046). The composite score continued to improve beyond 10 years of prosthesis wear (≤2 years mean 72.80 ± 1.65 versus >10 years mean 79.45 ± 0.70; p = 0.001). Both better prosthesis appearance (β = 0.14, p = 0.022) and improved motility (β = 0.13, p = 0.042) predicted a better dependency score. Use of lubricating ointment predicted a worse dependency score (β = 0.23, p = 0.003). Neither the frequency of removal, nor the cleaning frequency of the artificial eye correlated with QOL scales.
Multiple factors in the artificial eye experience were found to predict visual function and QOL aspects. This study underscores the need to generate a dedicated QOL questionnaire for use in anophthalmic patients.

OBJECTIVE: 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.
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.

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.
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.
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.
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.

To describe the clinical features, visual acuity and causes of ocular morbidity in children (0-18 years) with microphthalmos, anophthalmos, and coloboma (MAC) from North India.
A retrospective study conducted between October 2017 and September 2018 in three tertiary eye institutes, part of the Bodhya Eye Consortium with consensus led common pro formas. Children with complete clinical data and without syndromic/systemic involvement were included. The clinical phenotype was divided into isolated ocular coloboma (CB), coloboma with microcornea (CBMC), colobomatous microphthalmos (CBMO), non-colobomatous microphthalmos (MO) and anophthalmos (AO).
A total of 532 children with MAC were examined. Seventeen records were excluded due to incomplete data (0.2%). 515 children (845 eyes) were included: 54.4% males and 45.6% females. MAC was unilateral in 36% and bilateral in 64%. CB, CBMC, CBMO, MO and AO were seen in 26.4%, 31%, 22%, 8% and 12.5% of eyes, respectively. Nystagmus was found in 40%, strabismus in 23%, cataract in 18.7% and retinal detachment in 15%. Best-corrected visual acuity (BCVA) of <3/60 was seen in 62.4% eyes. Blindness (BCVA <3/60 in better eye) was seen in 42.8% of bilateral patients. Those with microcornea or microphthalmos with coloboma had worse BCVA (p<0.001). There were regional differences in the type of MAC phenotype presenting to the three institutes.
The MAC group of disorders cause significant ocular morbidity. The presence of microcornea or microphthalmos with coloboma predicts worse BCVA. The variation of the MAC phenotype with the district of origin of the patient raises questions of aetiology and is subject to further studies.

To evaluate long-term outcomes of progressively enlarging cosmetic customized prostheses (CCP) early after birth followed by dermis fat graft (DFG), as a strategy of socket rehabilitation in children with clinical congenital anophthalmia (CCA).
Twenty patients with unilateral and two patients with bilateral CCA were enrolled. All patients were treated by inserting a CCP at the time of their first assessment which was then enlarged. Subsequently they underwent DFG. Differences in vertical palpebral aperture (VPA) and horizontal palpebral length (HPL), between affected and unaffected sides, were recorded at the first CCP fitting as well as before and after DFG. Satisfaction with cosmetic results, prosthetic retention, and complications rate were assessed. Magnetic resonance imaging of the orbit was performed in all patients before and after surgery.
A significant decrease in the difference between the normal and the anophthalmic side of both PA and HPL was found over follow-up. Both VPA and HPL differences decreased by 47.6% (10.5 mm, range 1-28 mm) and by 7.1% (5.8 mm, range 0-18 mm), respectively. Satisfaction in terms of cosmetic outcomes proved to be very positive, being \"very satisfied\" for families and \"satisfied\" for physicians. Excellent retention of prostheses was observed in all cases.
A rehabilitating strategy combining early CCP and further DFG proved to be a valuable approach in children with CCA, offering significant benefits in terms of socket expansion, prosthetic retention, psychological impact, and cosmetic outcomes.

To determine the child\'s and parental perception of functional visual ability (FVA), vision-related and health-related quality of life (VR-QoL, HR-QoL) in children with microphthalmia/anophthalmia/coloboma (MAC).
Between June 25, 2014, and June 3, 2015, we carried out a cross-sectional observational study at Moorfields Eye Hospital, London, UK, enrolling 45 children 2-16 years of age with MAC attending our clinics, and their parents. To assess FVA, VR-QoL, and HR-QoL we asked participants to complete three validated tools, the Cardiff Visual Ability Questionnaire for Children (CVAQC), the Impact of Vision Impairment for Children (IVI-C) instrument, and the PedsQL V 4.0. The main outcome measures were the FVA, VR-QoL, and HR-QoL scores, reported by children and parents.
In children with MAC, FVA is moderately reduced, with a median CVAQC score of -1.4 (IQR, -2.4 to 0.4; range, -3.0 [higher FVA] to +2.8 [lower FVA]). VR-QoL and HR-QoL are greatly reduced, with an IVI-C median score of 63 (IQR, 52-66; normal VR-QoL, 96), a median self-reported PedsQL score of 77 (IQR, 71-90; normal HR-QoL, 100) and parental score of 79 (IQR, 61-93), and a family impact score of 81 (67-93). Psychosocial well-being scores are lower than physical well-being scores. Parents and children have a different perception of the impact of the condition on the child\'s HR-QoL.
MAC has a significant impact on a child\'s FVA and QoL, similar to that described by children with acute lymphoblastic leukaemia and chronic systemic conditions. Children and families may benefit from psychosocial support.

OBJECTIVE: To investigate the relationship between conjunctival flora and comfort of the socket in anophthalmic patients.
METHODS: A cross-sectional clinical study including 60 patients with unilateral anophthalmia who wear a prosthetic eye. From each patient three microbiological samples were taken from the lower conjunctival sac (healthy eye, pre-prosthesis, and retro-prosthesis space of socket). The 180 samples obtained were cultured. Samples from a randomized subgroup of 29 patients were measured by spectrophotometry at 540 nm after 48 h of growth, to determine their microbial density (MD). The grade of comfort of the socket (GCS) of each patient was established by a questionnaire. Epidemiological and clinical data of the anophthalmic socket and artificial eye care of each patient were also collected.
RESULTS: MD decreased in healthy eyes (0.213 ± 0.201, P = 0.004) compared with the pre-prosthesis (0.402 ± 0.323) and retro-prosthesis (0.438 ± 0.268) samples. Pre-prosthesis MD correlated with retro-prosthesis MD (R = 0.401, P = 0.031) and healthy eye MD (R = 0.482, P = 0.008), and it was also related to poor GCS (P = 0.017). Aerobic Gram-negative bacteria in retro-prosthesis samples of patients with poor GCS was higher than in patients with good or fair GCS (P = 0.008). In the same samples, coagulase-negative staphylococci proportion (excluding S. epidermidis) increased in patients with good GCS (P = 0.030).
CONCLUSIONS: Socket microflora is related to GCS. Increased pathogenic flora, especially Gram-negative bacteria, and high MD are related to discomfort, while coagulase-negative staphylococci (other than S. epidermidis) are associated with comfort.

To study trends over time in the incidence of congenital anophthalmia, microphthalmia and orbital malformations in England, along with changes in hospital admission rates for these conditions.
Using English National Hospital Episode Statistics (1999-2011), the annual rate of hospital admissions related to anophthalmia, microphthalmia and congenital malformations of orbit/lacrimal apparatus was calculated per 100 000 infants. The records were person-linked, which enabled patients\' \'first record\' rates to be calculated as proxies for incidence. Similar analyses on pre-1999 datasets were also undertaken for microphthalmia.
There was no systematic increase or decrease over time in the incidence of these conditions, but there was some fluctuation from year to year. The incidence of congenital anophthalmia ranged from 2.4 (95% CI 1.3 to 4.0) per 100 000 infants in 1999 to 0.4 (0 to 1.3) in 2011. The annual incidence of congenital microphthalmia was 10.8 (8.2 to 13.5) in 1999 and 10.0 (7.6 to 12.4) in 2011. The annual incidence of congenital orbital/lacrimal malformations was 0.5 (0 to 1.1) in 1999 and 0.7 (0 to 1.4) in 2011. Including multiple admissions per person, admission rates for microphthalmia showed a linear increase over time from 1999. The earlier data for microphthalmia indicated an increase in admission rates, but no change in incidence, from 1971 to 2011.
The incidence of these conditions has remained stable in England in recent years. Although the incidence of microphthalmia was stable, hospital admission rates for it increased over time reflecting an increase in multiple admissions per affected person. These data may be useful for planning service provision.