Volker Hingst

Expansion of the socket and orbit for congenital clinical anophthalmia.

Background: Congenital clinical anophthalmia requires fitting an artificial eye, achieving a pleasing aspect of the palpebral apparatus, and stimulating growth of the orbit, as well as of the entire midface. Methods: Out of 25 patients with clinical anophthalmia, 22 were treated according to a new protocol (first described by Wiese et al. in 1999) and followed for up to 6 years. In 10 patients, anophthalmia was bilateral, in nine patients, it was on the right side only and in three it was on the left side only. Treatment consisted of implantation of an osmotic expander to first stimulate growth of the conjunctival sac and eyelids followed by serial implantation of osmotic expanders to stimulate growth of the orbit (and thus of the midface). The material used was a copolymer of methylmethacrylate and N-vinylpyrrolidone. Results: Fitting of an artificial eye was without any problem within the first year of life for the most part. Growth of the orbit was stimulated by more than 65 percent of a healthy one. Aesthetically, the results were very largely pleasing. Complications were encountered, especially when the wrong expander sizes had been implanted. Conclusion: Using osmotic expanders of this type, through a staged therapy of minor operations, promises to achieve all goals before the child enters school.

Clinical and mutation analysis of 51 probands with anophthalmia and/or severe microphthalmia from a single center.

Clinical evaluation and mutation analysis was performed in 51 consecutive probands with severe eye malformations – anophthalmia and/or severe microphthalmia – seen in a single specialist ophthalmology center. The mutation analysis consisted of bidirectional sequencing of the coding regions of SOX2, OTX2, PAX6 (paired domain), STRA6, BMP4, SMOC1, FOXE3, and RAX, and genome‐wide array‐based copy number assessment. Fifteen (29.4%) of the 51 probands had likely causative mutations affecting SOX2 (9/51), OTX2 (5/51), and STRA6 (1/51). Of the cases with bilateral anophthalmia, 9/12 (75%) were found to be mutation positive. Three of these mutations were large genomic deletions encompassing SOX2 (one case) or OTX2 (two cases). Familial inheritance of three intragenic, plausibly pathogenic, and heterozygous mutations was observed. An unaffected carrier parent of an affected child with an identified OTX2 mutation confirmed the previously reported nonpenetrance for this disorder. Two families with SOX2 mutations demonstrated a parent and child both with significant but highly variable eye malformations. Heterozygous loss‐of‐function mutations in SOX2 and OTX2 are the most common genetic pathology associated with severe eye malformations and bi‐allelic loss‐of‐function in STRA6 is confirmed as an emerging cause of nonsyndromal eye malformations.

New osmotically active hydrogel expander for enlargement of the contracted anophthalmic socket

Abstract · Background: Clinical anophthalmia is characterized by the absence of an eyeball within the orbit and can result in overall growth retardation of the facial skeleton. The goal of treatment consists of fitting a serial prosthesis following rapid expansion of the contracted socket as soon as possible to achieve cosmetically acceptable eyelid and orbital symmetry. · Methods: Four children, aged 3–11 months, were treated by implantation of an anhydrous, highly hydrophilic tissue expander into the rudimentary conjunctival sac. With hydration of up to 98% in 72 h, the copolymer of methylmethacrylate and vinylpyrrolidone acts like an osmotically self-inducing socket expander. · Results: In the course of 2 months the previous contracted socket was enlarged, the horizontal lid length increased and the hydrated expander could be exchanged for a custom-made glass prosthesis. · Conclusion: Preliminary results suggest that this new device can be used to avoid early plastic surgery of the eyelid. In addition, it also may enlarge the volume of the bony orbit.

Reconstruction of the frontal calvarian continuity in a child using a freeze- preserved autogenous bone graft

Today, extended craniofacial defects in childhood can be treated by using modern techniques of bone banking and osteosynthesis, of particular importance when the restoration needs to consider calvarial growth. This is a report of an 8-year-old boy whose right frontal bone was removed during primary multidisciplinary trauma care. The bone was stored at a tissue bank using sterilization and freeze-dried preservation. Nine months later the graft was replaced and fixed with resorbable miniplates. Postoperatively no complications were observed and the (auto)graft has taken well. There was symmetrical craniofacial growth as well as a good aesthetic result three years after reconstruction.

Blindness following severe midfacial trauma--case report and review.

PURPOSE Severe trauma of the viscerocranium or neurocranium may result in impaired visual acuity or even blindness. Case based epidemiology, pathomechanism and actual strategies in midfacial trauma for initial therapy and prevention of posttraumatic blindness are discussed. CASE AND REVIEW A 58-year old patient was treated at our Department of Oral and Maxillofacial Plastic Surgery after his central midface had been hit by a swinging steel girder. Initially he was blind on both eyes. Initial treatment started by applying 24 mg of dexamethasone and omeprazole. During the following 2 weeks, amaurosis persisted on the left eye. On the right eye complete visual acuity was regained. On the basis of data from our Department of Oral and Maxillofacial Plastic Surgery an Odds Ratio of 0.12 was calculated for the combination of blindness and midfacial trauma. Today cortisol therapy is still used. However, hypothermia, anti-Trendelenburg position, and application of mannitol seem to be more effective therapeutic strategies. Erythropoetine and progesterone are promising drugs with neuroprotective, anti-inflammatory as well as anti-oedematous effects. CONCLUSION The risk of blindness is higher than expected. Latest findings regarding the neuroprotective effects of erythropoetine or/and progesterone seem to promise a more successful treatment.

[Adenoid cystic carcinoma of the lacrimal gland: report of two cases and literature review].

The adenoid cystic carcinoma of the lacrimal gland is a rare malignant orbital tumour, which has a generally poor prognosis. The therapy for adenoid cystic carcinoma of the lacrimal gland remains controversial. We present two cases of patients with adenoid cystic carcinoma of the lacrimal gland, who were treated with radical surgery in combination with radiotherapy. The therapeutic results are discussed with reference to relevant literature reports.