OBJECTIVE: This report presents the results of using cryopreserved umbilical amniotic membrane (cUAM) as an alternative mucosal graft for ocular surface reconstruction in cases of anophthalmic socket contracture (ASC), cicatricial entropion (CE), and conjunctival-scleral defects.
METHODS: The study included patients who underwent non-commercial implantation of cUAM grafts (prepared by corneal banking methods) for ASC, CE, conjunctival defect, and scleral melting. The main success criteria for this study were the comfortable fitting of the ocular prosthesis in ASC patients, the natural eyelid position in CE patients, and the degree of conjunctivalisation in melting patients.
RESULTS: cUAM transplantation was performed in 2 patients who could not use a prosthetic eye due to conjunctival contracture, 2 patients with CE, and 1 patient with conjunctival defect and 1 patient with conjunctival-scleral melting. The primary outcome was achieved in 83.3% (5/6) of patients. In one patient with CE, partial healing was achieved due to the persistence of CE in the medial upper eyelid.
CONCLUSIONS: cUAM is a viable alternative to mucosal grafting for reconstructing the bulbar and palpebral conjunctival surface, fornix, and orbit, with reduced donor morbidity and shorter surgical time. Its regenerative ability allows for tissue defect healing and improves cosmetic appearance through epithelialization within weeks.

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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.

OBJECTIVE: 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.
RESULTS: 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).
CONCLUSIONS: 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.

UNASSIGNED: 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.
UNASSIGNED: 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.
UNASSIGNED: 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.
UNASSIGNED: 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.

Pulmonary hypoplasia, Diaphragmatic anomalies, Anophthalmia/microphthalmia, and Cardiac defects (PDAC) syndrome is a genetically heterogeneous multiple congenital malformation syndrome. Although pathogenic variants in RARB and STRA6 are established causes of PDAC, many PDAC cases remain unsolved at the molecular level. Recently, we proposed biallelic WNT7B variants as a novel etiology based on several families with typical features of PDAC syndrome albeit with variable expressivity. Here, we report three patients from two families that share a novel founder variant in WNT7B (c.739C > T; Arg247Trp). The phenotypic expression of this variant ranges from typical PDAC features to isolated genitourinary anomalies. Similar to previously reported PDAC-associated WNT7B variants, this variant was found to significantly impair WNT7B signaling activity further corroborating its proposed pathogenicity. This report adds further evidence to WNT7B-related PDAC and expands its variable expressivity.

BACKGROUND: Self-inflating hydrogel expanders have been used to treat anophthalmia and blind microphthalmia. This study aimed to investigate the long-term outcomes of treatment with self-inflating hydrogel expanders for congenital anophthalmia and blind microphthalmia.
METHODS: In this retrospective study, the medical records of 161 patients with anophthalmia and blind microphthalmia who underwent hydrogel expansion were reviewed. We measured the palpebral fissure height (PFH), palpebral fissure length (PFL), and distance between the inner canthal and mid-nasal line (ICMN) before and after surgery. Cox regression analysis was conducted to determine which variables were related to the implantation of spherical expanders following hemispherical expander implantation.
RESULTS: After treatment, the PFH and PFL increased significantly (p < 0.001). Complications including expander migration and extrusion occurred in 15 cases. Five patients needed enucleation or further dermis fat graft implantation because of insufficient expansion. The necessity for further spherical expansion was substantially related to a relative axial length (rAL) <0.5 (p = 0.007).
CONCLUSIONS: Self-inflating hydrogel expansion can significantly increase the lid fissure. The occurrence of complications is rare, and surgical intervention can effectively address them. Abnormal eyes with a rAL of less than 0.5 demonstrate a higher possibility of needing additional orbital expansion.

OBJECTIVE: Graves\' disease (GD) is a rare auto-immune disorder in pediatric population. The association between GD and thymic hyperplasia was rarely reported in children. Diagnosis and management of GD are challenging in children.
METHODS: This report presents the case of a 5-year-old girl with a personal history of asthma and congenital bilateral isolated clinical anophthalmia who presented with acute congestive heart failure, sinus tachycardia and atypical signs of orbitopathy with edema and erythema of the lower right eyelid and excessive tearing. The diagnosis of GD was based on detecting a suppression of serum TSH level and the presence of high titers of TRAbs. Relapse occurred after 10 months of antithyroid drugs with chief complaints of palpitations, dyspnea and dysphagia. Computed tomography showed heterogeneous anterior mediastinal mass with no invasion into the surrounding tissue. The marked shrinkage of the mass after radioiodine therapy supported the diagnosis of thymic hyperplasia associated with GD.
CONCLUSIONS: The presence of clinical anophthalmia may be a confusing factor for the diagnosis of Graves\' ophthalmopathy. Recognition of the association between GD and thymic hyperplasia would avoid invasive diagnostic procedures and unnecessary surgical resection. Radioiodine therapy may be used in young children with repeated relapses of GD.

OBJECTIVE: To evaluate long-term outcomes of staged volume rehabilitation for acquired anophthalmos.
METHODS: Case-note review of patients who had preceding i) eye removal without implant, ii) eye removal with an intraconal implant, but ball-related problems, or iii) removal of exposed implant. Secondary interventions were a) a first-time ball implant, b) dermis-fat graft, c) ball repositioning, d) ball replacement after prior removal, or e) orbital floor implantation.
RESULTS: Secondary volume-augmenting surgery was performed in 175 sockets at a mean age of 42.7 years (range 2-91), with 62% secondary ball implants, 3% dermis-fat grafts, 6% ball repositioning, 19% ball replacement after prior removal for exposure, and 10% having orbital floor implantation. After this surgery, further volume enhancement was required in 21% of sockets, this being 40% for spheres ≤18 mm diameter, in contrast to 6% for those ≥20 mm ( p < 0.001). Exposure or malposition of the secondary implant occurred in 8% (12/151) and was unrelated to implant type, size, wrapping, or prior irradiation. Tertiary surgery addressed lining deficiency (18%) or eyelid malposition (25%). Overall, 92/175 (53%) had tertiary surgery to improve cosmesis and comfort, with 49% (36/92) being related to small implants. At a mean follow-up of 9.1 years, 82% of sockets had adequate volume, 79% had excellent lining, and 93% were comfortable. Prosthetic fit was satisfactory in 96% of cases, and 97% reported improved cosmesis.
CONCLUSIONS: Over half of the sockets having planned 2-stage volume enhancement may need further procedures, especially after small-volume secondary implants, but, with meticulous surgery, reasonable long-term results can be achieved with few complications.

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.