New radiological findings and radiculomegaly in oculofaciocardiodental syndrome with a novel BCOR mutation: A case report.

RATIONALE: Oculofaciocardiodental syndrome (OFCD) patients who show radiculomegaly are very rare. We treated a new OFCD patient orthodontically, and performed longitudinal observation for 30 years. New findings, termed calcified-dental-papillae (CDPs) beneath open-apices (OAs) of developing radiculomegalies, pulp-stone-like-calcifications (PSLCs) and the process of radiculomegaly development were observed. A novel mutation of BCL-6 interacting corepressor (BCOR) was identified. Cone-beam-computed-tomography (CBCT) images of the radiculomegalies clarified their morphology. PATIENT CONCERNS: A female patient and her parents were referred to orthodontic clinic for alignment of the teeth. DIAGNOSIS: A CDP that harbored bulbous-round-calcified-tissue in the dental papilla beneath the OA of a developing radiculomegaly was found radiographically. PSLCs were observed in the dental pulp. Genetic analysis revealed a novel mutation c.265G>A on Exon 4 and diagnosed as OFCD. CBCT images confirmed round-calcified-tissue and PSLC and that the length of an affected canine was 38.0 mm and calculated as +14.8SD. These novel findings were not observed in lateral incisors and molars. INTERVENTIONS: Observation was performed for 29 years and 3 months including orthodontic treatment for 2 years and 9 months. OUTCOME: Longitudinal follow-up for 26 years and 7 months after the treatment revealed that the development of radiculomegaly every few months or years, CDPs beneath OAs and PSLCs were observed. CDPs, PSLCs, and OAs were associated with radiculomegaly. The patient and the affected teeth including aligned teeth showed no particular change after the completion of the radiculomegaly. CBCT images showed bulbous-calcified-tissue and PSLCs in the mature dental pulp associated with radiculomegaly. LESSONS: The radiographical findings of CDP, OA and PSLC help early diagnose of OFCD and have importance for initiating orthodontic treatment until radiculomegaly completion.

[Clinical and anatomical features of congenital microphthalmia and anophthalmia in children and conservative methods of rehabilitation]. / Kliniko-anatomicheskie osobennosti vrozhdennogo mikroftal'ma i anoftal'ma u detei i konservativnye metody reabilitatsii.

AIM: To develop a comprehensive classification system of distinctive clinical and anatomical features of congenital microphthalmia and anophthalmia in children and to specify indications, contraindications, and optimal timing of the primary and subsequent prosthetic treatment. MATERIAL AND METHODS: A total of 70 patients with congenital micro- or anophthalmia aged from 1 month to 12 years were examined. Besides the routine ophthalmic examination, all patients underwent eye and orbit ultrasound (axial length measurement and B-scan), computed tomography of the orbits and skull, and immunological tests for infectious diseases (enzyme-linked immunosorbent assays). RESULTS: Basing on the examination RESULTS: we have determined the common types of congenital micro- and anophthalmia in children. We have also developed a stepwise prosthetic treatment aimed at better cosmetic rehabilitation. Indications and contraindications for the use of ocular prostheses in children with congenital micro- and anophthalmia have been identified. CONCLUSION: The proposed method of stepwise prosthetics is the principal option for conservative rehabilitation of children with congenital micro- or anophthalmia.

Contact lenses for visual rehabilitation in Bilateral Nanophthalmos with Retinal Dystrophy- A case report.

BACKGROUND: Nanophthalmos is an uncommon developmental ocular disorder characterized by a small eye with short axial length, high hyperopia and high lens to eye volume ratio due to arrested development of the globe in all directions. Different types of fundus changes can rarely occur with nanophthalmos. OBSERVATIONS: This is a case report of a 17 years old female who presented with bilateral gradual progressive visual loss and photophobia at Tilganga Institute of Ophthalmology on 3rd July 2015. Her best corrected visual acuity was 20/300 with +12.00Ds/-1.00Dcyl@180 in the right eye and 20/200 with +12.00Ds/-1.50Dcyl@180 in the left eye. Axial lengths of two eyes were markedly shortened with pigmentary changes at the macula and dull foveal reflex along with retinal flecks in the mid-periphery. Full field ERG showed diminished rod and cone waves suggestive of rod and cone dysfunction. With the use of Rigid Gas Permeable (RGP) contact lenses, the acuity improved to 20/200 and 20/125 in the right and left eye respectively. CONCLUSION: This study proposes the use of contact lenses and light absorptive filters for better visual rehabilitation.

Surgical and prosthetic treatment for microphthalmia syndromes.

Our aim was to evaluate the long-term outcomes of prosthetic treatment and orbital expansion in the management of microphthalmia syndromes. We did a retrospective single-centre study of all cases of microphthalmia treated between 1989 and 2010. The patients were divided into three groups: isolated microphthalmia, microphthalmia associated with micro-orbitism, and complex microphthalmia syndrome. To evaluate the results a score was computed for each patient by assessing the length of the palpebral fissure, the depth of the conjunctival fornix, and local complications together with an evaluation of the satisfaction of patients and their families. Forty-four children were included (27 boys and 17 girls). Twenty-seven had unilateral microphthalmia (61%) and 17 bilateral microphthalmia (39%). Twelve patients were lost to follow up. The mean duration of follow-up was 12 years (range 4-21). Management involved an ocular conformer in only 31 patients (71%). The treatment was deemed satisfactory in all except 10 children. Surgical treatment with orbital expansion permitted good symmetry of the orbital cavities with a final mean difference of 9% (range 3-17) compared with the initial 16.8% (range 13.6-20.3). The prosthetic treatment gives satisfactory results. Despite limited indications and difficult follow-up, our experience emphasises the value of surgical treatment for severe micro-orbitism.

[Therapy options for blind microphthalmos and clinical anophthalmos]. / Therapiemöglichkeiten bei funktionslosem Mikrophthalmus und klinischem Anophthalmus.

Children suffering from congenital anophthalmos (absence of eyes) or blind microphthalmos (eyes too small without light perception) show significant smaller eyelids, conjunctival sacs and orbital volume due to the lack of intrauterine growth stimulus. Highly hydrophilic osmotic expanders allow prostheses to be fitted in the first year of life to compensate for the volume deficit and the substantial aesthetic disadvantages and to stimulate lid development.

[Rehabilitation of patients with unilateral congenital microphthalmos].

The purpose of the present study was to develop a surgical treatment for congenital microphthalmos, by using the biomaterial Alloplant that causes an increase in eyeball sizes. There were 48 cases of unilateral congenital microphthalmos prior to surgery. The patients' age ranged from 2 to 14 years; the duration of follow-ups was 1 to 6 years. Data processing by parametric variance analysis indicated that there was an increase in the mean sizes of the anteroposterior and transverse axes (APA and TA) of the eye 2-3 years following surgery. With the use of the authors' method, the conjunctival cavity is not deformed and, on the contrary, after surgery it acquires a regular slit-like shape with vaults of sufficient depth, which upgrades the quality of prosthetic repair in future. The increases in the sizes (APA and TA) and volume of the eyeball not only just after surgery, but also in the late periods (up to 2-3 years) suggest that the developed operation using the biomaterial Alloplant triggers the mechanism of coordinated eyeball growth.

[Congenital clinical anophthalmia and blind microphthalmia]. / Kongenitaler klinischer Anophthalmus und funktionsloser Mikrophthalmus. Vergleichende Betrachtungen zu unterschiedlichen Therapiekonzepten.

Congenital anophthalmia and blind microphthalmia are very rare conditions and there is no standard treatment available. Various previously reported therapeutical concepts are reviewed. The clinical picture can be divided into three subgroups with different therapeutical options recommended: in microphthalmia the conjunctival sac size is usually normal or slightly decreased. The use of non-expandable conformers is possible with good results. Patients treated with hydrogel expanders can wear a prosthesis earlier and with better cosmetic results. In congenital anophthalmia the conjunctival sac is very small and contracted and patients cannot wear a prosthesis or even a conformer. Hydrogel expander treatment--first for the conjunctival sac and second for the orbit--is the therapeutical option which may lead to good cosmetic results. Children >5 years of age and/or unsuccessful pre-treated cases may benefit from osteotomy to reduce mid-face asymmetry. To attain the main therapeutical goal in this subgroup, the ability to fit a normal prosthesis, a combination of different techniques like hydrogel expanders, dermis fat graft, lid surgery etc. may be necessary.

[Treatment of congenital clinical anophthalmos with high hydrophilic hydrogel expanders]. / Therapie des kongenitalen klinischen Anophthalmus mit hoch hydrophilen Hydrogelexpandern.

INTRODUCTION: Children presenting with congenital anophthalmos usually develop a smaller bony orbit, a constricted mucosal socket, and a shortened eyelid fissure. This causes problems when fitting these patients with a prosthesis. Clinical evaluation of the Wiese self-inflating hydrogel expanders has demonstrated their ability to expand the socket and eyelid fissure for inserting a more realistic prosthesis in shorter periods of time. PATIENTS AND METHOD: The study included 13 consecutive anophthalmic patients, eight unilateral and five bilateral. Each patient received a hemispherical osmotic tissue expander in the rudimentary mucosal socket and later a sphere implanted in the deeper soft orbital tissue. RESULTS: The use of hydrogel expanders enlarged the lid and palpebral fissure in all children, with good cosmetic results. It allowed insertion of custom-made glass prostheses with good cosmetic appearance very early in life. Growth of the bony orbit may be stimulated successfully by these expanders in the soft orbital tissue. CONCLUSIONS: The enlargement of constricted mucosal sockets and short palpebral fissures using self-inflating hydrogel expanders is a new and successful concept in treating congenital anophthalmos.

[Basic trends in the organization of ocular prosthetics service]. / Osnovnye napravleniia organizatsii sluzhby glaznogo protezirovaniia.

The key issues related with rendering the ocular prosthetic aid to patients with anophthalmos and with cosmetically inferior, i.e. a smaller-size, blind eye, are in the focus of attention. Around 320,000 persons need ocular prostheses in the territory of the Russian Federation, hence adequate prosthetic measures are taken to cope with the cosmetic, medical and social rehabilitation of patients. The ocular prosthetics service deals with issues related with prostheses manufacturing technologies as well as with other therapeutic and surgical aspects which call for working out a unified policy with its subsequent commissioning into the practice of ophthalmologic institutions.

Management of microphthalmos and anophthalmos: prosthetic experience.

INTRODUCTION: Congenital microphthalmos and anophthalmos are rare. The reduced eyeball size, or its absence, prevents the normal development of the orbit. This lack of development has functional, physical and psychological repercussions. The authors report their experience of prosthetic treatment for microphthalmos and anophthalmos. PATIENTS AND METHODS: Our study is about 11 children with 13 cases of microphthalmos and 2 of anophthalmos. These cases have been clinically observed between 1998 and 2002. A detailed history, ophthalmological and complete paediatric examination and a prosthetic treatment were undertaken for all of them. RESULTS: 4 children had bilateral involvement. 8 children had other ocular or general malformations. No prenatal infections during pregnancy were detected (rubella, cytomegalovirus). One treatment of clinical anophthalmos was interrupted on the parents' request (slow and bad evolution with complete retraction of the orbital socket after a conjunctivitis). For 9 children, the evolution was good with growth of the orbital cavity and a satisfactory cosmetic result. However, hypoplasia was observed on the lateral orbital wall for severe microphthalmos. One child presenting a bilateral microphthalmos received a cosmetic scleral shell with optical correction. CONCLUSIONS: Management of anophthalmos is difficult and unrewarding. But the use of cosmetic scleral shells in all cases of microphthalmos, even severe ones, is useful and effective.

Participation of a preschooler with visual impairments on the playground: effects of musical adaptations and staff development.

The purpose of this study was to evaluate the adaptations of a playground, and subsequently staff development, on the participation of a 3-year-old boy with congenital blindness. A single-subject design with three conditions (baseline, adaptations of the playground, and staff development) was used. The playground adaptation involved adding musical stations in strategic locations on the playground and connecting them with a "path" that provided auditory feedback. The staff training involved the music therapist providing individualized instruction to the staff who supervised the child. The child's participation was measured in terms of social interaction with peers or adults, play and engagement with materials, movement on the playground, and stereotypic behaviors. The playground adaptation resulted in no changes in the child's social interactions with peers or adults, increases in engagement, no change in movement on the playground, and a decrease in stereotypic responses. Staff training resulted in increased but variable interactions with adults and peers, in additional increases in engagement, less movement, and similar levels of stereotypic behavior. The findings suggest that musical adaptations of physical environments may he helpful but not sufficient for promoting desired outcomes.

[Potentialities of conservative and surgical treatment of patients with congenital microphthalmia and anophthalmia]. / Vozmozhnosti konservativnogo i khirurgicheskogo lecheniia patsientov s vrozhdennym mikroftal'mom i anoftal'mom.

Congenital anophthalmia and microphthalmia were responsible for 1.7-1.8% cases of all cases treated at laboratory of plastic surgery and ocular prostheses. Clinical picture of the condition is described. The philosophy of rehabilitation of patients with congenital anophthalmia and microphthalmia is as follows: 1) no operations during the first years of life; 2) early staged fitting with prostheses; 3) surgical treatment in older age, when the resources of conservative extension of the cavity are exhausted. The authors emphasize that active conservative treatment should be preferred. Method for nonsurgical extension of the conjunctival cavity by staged insertion of prostheses is described. Positive and negative aspects of surgical treatments are discussed. The authors emphasize that surgical activity in early age is extremely harmful. Results of surgical treatment of 27 patients are presented. The patients were divided into 2 groups differing by the tasks of surgery: repair of consequences of previous operations (59.2% cases) and typical correction of the eye lids (40.8%). Clinical examples are offered.

Reconstruction of the lower lid in congenital microphthalmos and anophthalmos.

In congenital microphthalmos and anophthalmos, the socket and lids are often underdeveloped. Progressive dilation of the socket often does not increase the horizontal lid aperture or permit the use of a larger prosthesis. The authors present two cases in which a modified Mustarde cheek flap, lined with a tarsal-conjunctival graft, was used to reconstruct and lengthen the lower lid. This procedure results in a larger horizontal lid aperture and permits a larger prosthesis to be contained in the socket.