Clinical Characterization of Congenital Anophthalmic and Microphthalmic Cavities in Inidviduals With Craniofacial Anomalies.

OBJECTIVE: Measure the frequency of anophthalmic and microphthalmic patients with craniofacial anomalies (FCAs). DESIGN: Descriptive, cross-sectional, retrospective study. SETTING: Hospital for Rehabilitation of Craniofacial Anomalies of the University of São Paulo (HRAC-USP). The medical records of patients treated at HRAC from 2000 to 2012 with a diagnosis of congenital anophthalmia or microphthalmia were examined. Patients were excluded for secondary anophthalmia, incomplete medical records, or information that could not be accessed. OUTCOME MEASURES: Frequency of anophthalmia and microphthalmia; the proportions and diagnoses of associated FCAs; impairment of ocular appendages; extracranial or facial anomalies; genetic alterations; and surgical approach. RESULTS: A total of 56 patients had anophthalmia (52.3%), 35 had microphthalmia (32.7%), and 16 patients had both (15%). Individuals with FCAs associated with microphthalmia, anophthalmia, or both totaled 74, corresponding to 69.2%. Anophthalmia was more likely than microphthalmia to be accompanied by FCAs, at 76.4% of patients ( P < 0.05). Cleft lip and palate were the main malformations associated with anophthalmia (23.64%), with microphthalmia (45%), and with both (44.44%). Reconstructive surgery was done in 63.6% of cases. The ocular attachments were compromised in 71% of cases. Extracraniofacial malformations were found in 9.3% of patients. Only 7 records contained karyotypes, and no changes directly related to anophthalmia or microphthalmia were found. CONCLUSION: Anophthalmia is more frequent than microphthalmia and is more often accompanied by FCA. Cleft lip and cleft palate are the most frequent concomitant malformations.

Congenital Orbital Glial Heterotopia Associated with Clinicopathological Anophthalmia: A Case Report.

Glial heterotopia (GH) is the presence of glial tissue outside the cranial cavity, without communication with the brain. The orbital location usually presents as eyelid swelling, strabismus, and proptosis. This is considered a congenital location that usually presents at birth. Its association with anophthalmia is uncommon. We report the case of a 2-day-old male neonate with left congenital intraorbital lesion presenting with massive proptosis. No eyeball could be seen. Preoperative magnetic resonance imaging disclosed a large and predominantly cystic mass occupying and protruding from the left orbit without intracranial extension. In the operating theatre, a large amount of fluid was aspirated prior to total resection of the mass. Chemical analysis of the fluid was compatible with cerebrospinal fluid. Histologically, the tumor was composed of mature neuroglial tissue and ependymal cells. Despite multiple sections, no choroid plexus or intraocular content was found. The diagnosis of GH with anophthalmia was made.

Unilateral Anophthalmia and Congenital Frontal Cranioschisis Associated with Extradural Neuroglial Heterotopia: new Insights into a Possible New Malformative Spectrum.

Background: Neuroglial heterotopia, characterized by mature -neuroglial tissue outside the central nervous system, has not been previously associated with cranioschisis. Case Report: A 4-year-old female patient, with left congenital anophthalmia, had a nasofrontal neuroglial heterotopia protruding through an ossification defect. Discussion: Nasofrontal cranioschisis may be associated with neuroglial heterotopias. The combination of anophthalmia and neuroglial heterotopia, previously described only once in the literature, may be part of a broader malformation spectrum that has not been properly characterized to date.

The Nasolacrimal Drainage System in 143 Children with the Microphthalmos-Anophthalmos Complex. / Tränenwegsbefunde von 143 Kindern mit Mikrophthalmus-Anophthalmus-Komplex.

BACKGROUND: Report of clinical findings relating to the lacrimal system in congenital clinical anophthalmos and severe blind microphthalmos (MAC-complex patients). METHODS: A retrospective study of the notes of 207 consecutive patients treated surgically at least once with highly hydrophilic self-inflating expanders for MAC between 1998 and 2021. The lacrimal drainage system was always probed and irrigated under general anaesthesia before any other procedure was started. RESULTS: 64 patients were excluded due to possible misdiagnosis because of previous lid or orbit surgery elsewhere or due to missing data. The analysis therefore included 67 girls and 76 boys aged between 1 and 126 months (median age: 5 months). 72 patients presented with unilateral and 42 with bilateral anophthalmos, and 24 had unilateral and 5 bilateral microphthalmos; consequently, 286 orbits (of which, 190 with probable pathology) were available for assessment. In unilateral cases the lacrimal system on the normal side was never affected. On the anophthalmic or microphthalmic side the lacrimal system was normal in 68 orbits only (35.8%). The most frequent finding was canalicular stenosis (91 orbits; 48%). Common canaliculus stenosis was observed in 12 orbits (6.3%) and nasolacrimal duct obstruction in 9 orbits (4.7%). There were four cases of punctal aplasia, but no other anomalies. In unilateral MAC pathologic findings during lacrimal probing were found to be associated with anatomical malformation of the contralateral fellow eye. Only in unilateral anophthalmos there was a significant association with cleft lip and palate, which was not found in the three other groups. CONCLUSIONS: In congenital clinical anophthalmos the lacrimal system is affected in up to 66.5% of cases, mostly due to canalicular stenosis. Even if there is no clear evidence of an embryological connection, this association is certainly not a random finding.

Non-syndromic anophthalmia/microphthalmia can be caused by a PORCN variant inherited in X-linked recessive manner.

Anophthalmia and microphthalmia (A/M) represent severe developmental ocular malformations, corresponding, respectively, to absent eyeball or reduced size of the eye. Both anophthalmia and microphthalmia may occur in isolation or as part of a syndrome. Genetic heterogeneity has been demonstrated, and many genes have been reported to be associated with A/M. The advances in high-throughput sequencing have proven highly effective in defining the molecular basis of A/M. Nevertheless, there are still many patients with unsolved genetic background of the disease, who pose a significant challenge in the molecular diagnostics of A/M. Here we describe a family, with three males affected with the non-syndromic A/M. Whole exome-sequencing performed in Patient 1, revealed the presence of a novel probably pathogenic variant c.734A>G, (p.[Tyr245Cys]) in the PORCN gene. Pedigree analysis and segregation of the identified variant in the family confirmed the X-linked recessive pattern of inheritance. This is the first report of X-linked recessive non-syndromic A/M. Until now, pathogenic variants in the PORCN gene have been identified in the patients with Goltz syndrome, but they were inherited in X-linked dominant mode. The ocular phenotype is the only finding observed in the patients, which allows to exclude the diagnosis of Goltz syndrome.

A rare association of right hemicerebral dysgenesis with congenital anophthalmia in a neonate.

Congenital anophthalmia is rare and can occur due to various etiologies, including genetic defects, teratogenic exposures, and vascular disruptions. We report a rare case of right-sided congenital anophthalmia and hemicerebral dysgenesis in association with ipsilateral hemicerebral vascular dysgenesis in a neonate. Postnatal neuroimaging was conspicuous for a "bare orbit sign." A unilateral cranial neurocristopathy was suspected to be an underlying etiopathology for such a diffuse defect.

Evaluation of Lacrimal Drainage Function in the Anophthalmic Socket by Dacryoscintigraphy.

PURPOSE: To investigate whether impaired lacrimal pump function is a possible cause of discharge in patients wearing an artificial eye compared with the remaining healthy eye. METHODS: Consecutive patients wearing unilateral ocular prosthesis for ≥6 months were included in this retrospective study. Excluded were any deformities of eyelids or nasal passage, socket complications such as entropion, ectropion, ptosis, infection, pyogenic granuloma, contracted socket, obstruction of nasolacrimal duct diagnosed with lacrimal irrigation and a difference greater than 2 mm in terms of protrusion between two eyes detected by Hertel exophthalmometry. Patients were asked to score the levels of tearing and mucopurulent discharge between 0 and 5 to assess lacrimal drainage function subjectively. Furthermore, dacryoscintigraphy was performed to assess the functional status of the lacrimal system objectively. RESULTS: Included were 32 subjects (12 females, 20 males; aged 32.94 ±â€Š17.62, range 13-78). Mean duration of prosthetic wearing 26.41 ±â€Š21.30 (6-72) months. The mean subjective scores of tearing and mucopurulent discharge were 1.56 ±â€Š1.67 and 1.94 ±â€Š1.63, respectively. The rate of functional stenosis was significantly higher in the anophthalmic socket side as compared to the healthy side (P = 0.002). The rates of a presac, preduct, and intraduct obstruction was notes as n = 9, n = 10, n = 1 and n = 0, n = 6, n = 2 in the anophthalmic side and the companion eye, respectively (P = 0.021). CONCLUSION: Compared to paired healthy eyes, the ocular prosthesis exhibited significantly higher rates of functional lacrimal duct obstruction, especially at the presac level. The alterations in orbital volume and tear film composition in addition to reduced corneal reflex blinking may lead to the failure of lacrimal pump function in artificial eyes.

Lacrimal drainage system anomalies in microphthalmia anophthalmia coloboma complex.

Purpose: To study the prevalence and types of lacrimal drainage system (LDS) anomalies inchildren with congenital microphthalmia anophthalmia coloboma (MAC) complex.Methods: This is a prospective, consecutive, non-comparative, case series of LDS anomalies in 31 children presenting with MAC complex. Previously untreated children with MAC complex, enrolled for socket surface and volume expansion during the study period from January 2017 to April 2018 were included.Results: Thirty-one patients with MAC complex were evaluated for LDS anomalies. Incidence of LDS anomalies in children presenting with MAC complex was 68% (42 of 62 lacrimal systems evaluated). Mean age of the patients at the time of examination under anaesthesia was 27 ± 25 (median 15 months, range 3-108 months). Proximal bicanalicular block (BCB) was the commonest LDS anomaly, noted in 15 (48%) cases. In patients with unilateral ocular disease (n = 20), LDS was affected in 14 (70%) patients and in 9 (45%) patients ipsilateral side LDS was affected. In patients with bilateral ocular disease (n = 11), LDS was affected in 7 (64%) patients. Three patients with unilateral anophthalmos (25%) had an ipsilateral upper canalicular block and contralateral nasolacrimal duct obstruction, of which one patient had a single canalicular wall hypoplasia along with CNLDO. No patient had punctal anomalies.Conclusions: LDS anomalies are seen in nearly two-thirds (68%) of children with MAC complex. The lacrimal drainage system anomaly is not limited to the side of the MAC complex. Commonest LDS anomaly is proximal bicanalicular blocks while punctal anomalies are unusual.

Bipedicle Dermis Fat Graft for Orbital Volume Augmentation and Repair of Lower Eyelid Retraction in an Anophthalmic Socket With Prior Orbital Implant Placement.

Buphthalmos can create treatment challenges for socket rehabilitation following enucleation due to compression atrophy and mechanical stretching of adnexal tissues. The authors report a case demonstrating a surgical technique for simultaneous volume augmentation of the anophthalmic socket, expansion of the conjunctival fornix, and repair of lower eyelid retraction in a patient with history of buphthalmos and a previously placed 22 mm orbital implant at the time of enucleation. The authors utilized a single-stage, bipedicle dermis fat graft. Postoperatively, the patient demonstrated improvement in lower eyelid position, lower eyelid volume, improved prosthesis fit, improved three-dimensional projection of the ocular prosthesis, and an improvement in the superior sulcus deformity. Bipedicle dermis fat grafts are an option for surgical rehabilitation of the anophthalmic socket when orbital volume deficiency, conjunctival fornix contracture, and eyelid retraction are present and an adequately sized orbital implant has previously been placed.

Split-Skin-Graft Wrapped Conformer to Treat Severe Contracted Sockets.

This case series present the surgical management of cases with severe contracted sockets using a split-skin-graft wrapped conformer. Eight patients with severely contracted anophthalmic sockets underwent surgery. The surgical technique is described and a chart review was performed to collect patient data pre- and postoperatively. Preoperatively, all patients had grade 3 or 4 contracted sockets with shallow or obliterated fornices and patients were unable to retain an external prosthesis in place. Donor material was harvested from the supraclavicular area. The split-skin-graft was successfully performed in all cases without fornix-deepening sutures. All patients underwent a significant improvement of socket contracture enabling retention of the prosthesis and were satisfied with the outcomes. The split-skin-graft wrapped conformer is a rapid and less surgically challenging option to correct severe contracted anophthalmic sockets.

Deepening Fornix Technique Using Central Split-Medium Thickness Skin Graft to Treat Contracted Anophthalmic Sockets.

PURPOSE: The aim of thhis study was to present the outcomes of postauricular split-medium thickness skin graft (SMTSG) to treat anophthalmic sockets with contracted fornices. METHODS: This case series enrolled patients with grade 2 or 3 anophthalmic sockets between 2015 and 2016. Data were collected on patient demographics, objective and subjective parameters preoperatively and 180 days postoperatively. Success of the surgery was graded on the height of the graft, the depth of the superior and inferior fornices, and presence/abscence of lagophthalmos, entropion, and ability to retain an external prosthesis. RESULTS: Eighteen patients were enrolled with a mean age of 35.9 ±â€Š18 years. The median height of the graft was 22 mm (25% quartile = 18.75) when removed and 20 mm (25% quartile = 16) postoperatively. The median depth of the superior fornix was 6.5 mm (25% quartile = 4.5 mm) preoperatively and 10 mm (25% quartile = 8 mm) postoperatively (P = 0.5). The median inferior fornix depth was 7 mm (25% quartile = 3.5 mm) preoperatively and 8 mm (25% quartile = 5 mm) (P = 0.27) postoperatively. Preoperatively, there were 13 (72.2%) patients with lagophthalmos, 10 (44.4%) with entropion, 3 (37.5%) with poor prosthesis retention, and 5 (62.5%) who were unable to retain the prosthesis. Postoperatively, 7 (38.9%) patients had lagophthamos, 1 (5.6%) had entropion, and all the patients could retain the prosthesis. None of the sockets had a foul odor postoperatively. CONCLUSIONS: Postauricular SMTSG achieves successful outcomes for the treatment of contracted anophthalmic sockets, reshaping the anterior socket surface and deepening the fornices.

Reconstruction of Contracted Eye Socket With Autogenic Dermal Sphere Connected to Epidermis.

BACKGROUND: Because of the deficiency of blood circulation and soft tissue, reconstruction of the eye socket for severe conjunctival sac stenosis in anophthalmic patients is very difficult. In this article, the authors report an innovative technique for conducting a 1-stage operation to reconstruct the contracted eye socket with an autogenic dermal sphere connected to the epidermis (ADSE). METHODS: Five patients, each having a single severely contracted eye socket and conjunctival sac, were included in this study. An ADSE was transplanted into the contracted eye socket and conjunctival sac. After the operation, several observation indexes were evaluated, such as the survival and stability of implanted autologous tissue, the improvement of the contracted eye socket, and the degree of patients' satisfaction with their appearance. RESULTS: All of the implanted epidermal and dermal tissues survived well after 6 months' observation. Although somewhat absorbed, the transplanted dermal ball was plump in the eye socket, and the epithelial tissues merged well with the residual conjunctival epithelium. Moreover, the transplanted epidermis assumed a mucosal appearance in 4 of 5 patients. After reconstruction of the eye socket, the size of the conjunctival sac and depth of the eye socket were corrected sufficiently for patients to wear an ocular prosthesis. CONCLUSIONS: The implantation of an ADSE can reconstruct a severely contracted eye socket in anophthalmic patients. Because of the high survival rate and limited absorption ratio, this 1-stage operation satisfied both patients and their ophthalmologists.

A case series of anophthalmic socket cysts excised utilising fibrin sealant.

Anophthalmic socket cysts are challenging to remove and incomplete excision has been shown to increase the risk of recurrence. This case series describes a novel technique utilising the fibrin sealant Tisseel (Baxter AG, Vienna, Austria) to retain the socket cyst integrity during surgical removal to facilitate its complete excision. Five patients were included and followed up for a minimum of 1 year, and there were no signs of recurrence in any of the cases. The surgical technique is described and illustrated. This technique is a safe way of simplifying challenging socket cyst surgery.

Aetiology of acquired blepharoptosis in young adults.

PURPOSE: To identify the causes of blepharoptosis in young adults, and explore cases that do not fit into current diagnostic categories. METHODS: A retrospective cohort study of all patients aged 18-40 years ("young adults") with acquired blepharoptosis that presented to two specialist ocular plastics practices and a paediatric ophthalmologist over a period of up to 25 years. Each patient was classified according to diagnosis. Where the diagnosis was uncertain, the files were examined in detail to try and further establish a cause. RESULTS: A total of 266 young adult patients were included. The most common causes of acquired blepharoptosis were trauma-related (28.2%) and anophthalmic blepharoptosis (19.9%). In 12.4% of the cases, a definite diagnosis could not be made. Of these, one-third had a history of soft contact lens use, a possible etiologic factor. CONCLUSIONS: The cause of acquired blepharoptosis can usually be established by an appropriate history and examination, with additional diagnostic tests sometimes required. Nearly half of all young adult ptosis is related to trauma or acquired anophthalmos. Around one in eight young adults have blepharoptosis of unknown cause, a group warranting further study.

PV16-Positive Invasive Conjunctival Squamous Cell Carcinoma in an Anophthalmic Socket.

Squamous cell carcinoma arising from conjunctiva in the anophthalmic socket decades following enucleation is rare, but has been previously described. The authors report the first case associated with human papillomavirus (serotype 16) with regional metastases. The patient ultimately underwent orbital exenteration along with parotidectomy and neck dissection which revealed positive lymph nodes. The literature is reviewed relating to this uncommon entity and its management with an analysis of potential contributing risk factors.

[The potential of ectoprosthetics in rehabilitation of patients with orbital pathology]. / Vozmozhnosti éktoprotezirovaniia v reabilitatsii patsientov s patologiei orbity.

AIM: rectification of indications and contraindications for ectoprosthetics and exploration of its potential as a modern rehabilitation modality. MATERIAL AND METHODS: Here are summarized the results of 89 cases of facial reconstruction with prosthetic means in trauma patients and those who had had congenital or oncological pathology and in whom other methods of rehabilitation were unable to remedy the defect within the orbital region. RESULTS: The indications and contraindications for facial prosthetics as well as the conditions, under which this type of medical and social rehabilitation can be carried out, were clarified. The authors also explained the process of creating an epiprosthesis and how it should be attached to the orbit to have the maximum effect on the existing defects of both the bone and auxiliary apparatus (including eyelid soft tissues, eyelashes, etc.). Because modern ectoprostheses are made of silicone and held in place with magnets, they provide an optimal cosmetic result, so that, regardless of patient's age, no rough defects can be detected on the affected side at a 2-m distance. CONCLUSION: As the production technology develops, the cosmetic appearance of epiprostheses improves and their use broadens.

Lenz micropthalmia syndrome with associated orbital cysts.

An 8-year-old boy presented for oculoplastic evaluation of bilateral microphthalmia. He had multiple other congenital anomalies, including microcephaly, wide-spaced teeth, sloping shoulders, protruding ears, syndactyly, a posterior urethral valve, cystic dysplasia of the kidneys, and a bicuspid aortic valve. Taken together, these findings supported the diagnosis of Lenz microphthalmia syndrome. CT of the orbits revealed bilateral microphthalmic globes with associated colobomatous cysts. To the authors' knowledge, this is the first reported case of Lenz microphthalmia syndrome with associated orbital cysts.

Unusual onset of Graves' disease associated with thymic hyperplasia in a 5-year-old girl with congenital bilateral clinical anophthalmia: diagnostic and therapeutic challenges.

OBJECTIVES: 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. CASE PRESENTATION: 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.

Language and nonverbal auditory processing in the occipital cortex of individuals who are congenitally blind due to anophthalmia.

Individuals with congenital blindness due to bilateral anophthalmia offer a unique opportunity to examine cross-modal plasticity in the complete absence of any stimulation of the 'visual' pathway even during development in utero. Our previous work has suggested that this complete sensory deafferentation results in different patterns of reorganisation compared with those seen in other early blind populations. Here, we further test the functional specialisation of occipital cortex in six well-studied cases with anophthalmia. Whole brain functional MRI was obtained while these human participants and a group of sighted controls performed two experiments involving phonological and semantic processing of words (verbal experiment) and spatial and identity processing of piano chords (nonverbal experiment). Both experiments were predicted to show a dorsal-ventral difference in activity based on the specific task performed. All tasks evoked activation in occipital cortex in the individuals with anophthalmia but not in the sighted controls. For the verbal experiment, both dorsal and ventral occipital areas were strongly activated by the phonological and semantic tasks in anophthalmia. For the nonverbal experiment, both the spatial and the identity task robustly activated the dorsal occipital area V3a but showed inconsistent activity elsewhere in the occipital lobe. V1 was most strongly activated by the verbal tasks, showing greater activity on the left for the verbal task relative to the nonverbal one. For individual anophthalmic participants, however, activity in V1 was inconsistent across tasks and hemispheres with many participants showing activity levels in the control range, which was not significantly above baseline. Despite the homogeneous nature of the cause of blindness in the anophthalmic group, there remain differences in patterns of activation among the individuals with this condition. Investigation at the case level might further our understanding of how post-natal experiences shape functional reorganisation in deafferented cortex.