Search

Background Down-sloping sensorineural hearing loss (SNHL) in people in their teens and 20s hampers efficient learning and communication and in-depth social interactions. Nonetheless, its aetiology remains largely unclear, with the exception of some potential causative genes, none of which stands out especially in people in their teens and 20s. Here, we examined the role and genotype–phenotype correlation of lipoxygenase homology domain 1 (LOXHD1) in down-sloping SNHL through a cohort study. Methods Based on the Seoul National University Bundang Hospital (SNUBH) genetic deafness cohort, in which the patients show varying degrees of deafness and different onset ages (n=1055), we have established the ’SNUBH Teenager–Young Adult Down-sloping SNHL’ cohort (10–35 years old) (n=47), all of whom underwent exome sequencing. Three-dimensional molecular modelling, minigene splicing assay and short tandem repeat marker genotyping were performed, and medical records were reviewed. Results LOXHD1 accounted for 33.3% of all genetically diagnosed cases of down-sloping SNHL (n=18) and 12.8% of cases in the whole down-sloping SNHL cohort (n=47) of young adults. We identified a potential common founder allele, as well as an interesting genotype–phenotype correlation. We also showed that transcript 6 is necessary and probably sufficient for normal hearing. Conclusions LOXHD1 exceeds other genes in its contribution to down-sloping SNHL in young adults, rising as a signature causative gene, and shows a potential but interesting genotype–phenotype correlation. [ABSTRACT FROM AUTHOR]

Background/Aims To report the long-term outcomes of enucleation and insertion of porous polyethylene (PP) orbital implant according to the evolving surgical techniques and implant in patients with paediatric retinoblastoma. Methods Patients with paediatric retinoblastoma who underwent enucleation and PP implant insertion from December 1998 to December 2014 were retrospectively reviewed and divided into four groups: group A, classic enucleation +PP implant; group B, enucleation +PP implant +anterior closure of the posterior Tenon's (ACPT) capsule; group C, enucleation +PP implant +free orbital fat graft +ACPT and group D, enucleation +smooth surface tunnel PP implant +ACPT. Survival analysis of implant exposure and eyelid malpositions was performed. Results One hundred and ninety-eight eyes of 196 patients were included. The median follow-up period was 13.0 years (range, 5.0-21.1). A 20 mm implant was inserted for 149 eyes (75.3%). The 10-year exposure-free survival probabilities were 44.6% in group A, 96.4% in group B, 97.4% in group C and 97.7% in group D. ACPT was associated with significant reduction in implant exposure (p<0.001). The most common eyelid malposition was upper eyelid ptosis (24.2%). The eyelid malposition-free survival probability did not differ among the four groups. However, the insertion of a 20 mm implant was associated with significant reduction in upper eyelid ptosis and lower eyelid entropion (p=0.004 and 0.038, respectively). Conclusions The long-term postenucleation implant exposure was rare after PP implant insertion and ACPT, even with a 20 mm-diameter implant. A larger implant can be beneficial in long-term prevention of eyelid malposition. [ABSTRACT FROM AUTHOR]

Background/aim To analyse the clinical risk factors for extraophthalmic involvement and treatment outcomes in patients with IgG4-related ophthalmic disease (IgG4-ROD) in Korea. Methods We retrospectively reviewed medical records of 42 patients diagnosed with IgG4-ROD confirmed by a surgical biopsy during the 7-year period, between January 2009 and March 2015, at three tertiary referral centres in Korea. Data regarding patients' demographics, clinical characteristics and radiological findings were obtained. The relapse rate was compared between systemic steroids only and combined immunosuppressant therapy. results The mean patient age was 55.2 years (male:female ratio, 1:1). Based on the primary orbital structure affected, the IgG4-RODs were classified as dacryoadenitis (52.4%), orbital soft tissue inflammation (21.4%), trigeminal nerve involvement (11.9%) and myositis (9.5%). Extraophthalmic involvement (n=21) was associated with bilateral involvement (p=0.004), longer symptom duration (p=0.033) and a higher serum IgG4 level (p=0.034). Initial treatment regimens included attentive observation (n=7), prednisolone alone (n=22) and prednisolone plus immunosuppressive agent (n=13). During follow-up (mean, 24 months), 13 patients (37.1%) experienced relapse. In the extraophthalmic involvement group, steroid therapy alone resulted in a significantly higher relapse rate than combined immunosuppressant treatment (p=0.028). Conclusion Bilateral involvement, longer symptom duration and higher IgG4 levels were significant risk factors for extraophthalmic involvement in Korean patients with IgG4-ROD. In patients with an extraophthalmic involvement, prednisolone combined with an immunosuppressive agent was more effective for preventing recurrence than prednisolone alone. [ABSTRACT FROM AUTHOR]

Background/aims To assess the prevalence, clinical features and risk factors of lower lid epiblepharon among patients with congenital glaucoma. Methods Cross-sectional, observational, case–control study. Patients diagnosed with congenital glaucoma between August 1999 and November 2014 were included. Demographic and clinical characteristic data were collected. Age-matched normal controls were recruited form general population. Main outcome measures were the prevalence, laterality and factors associated with epiblepharon in patients with congenital glaucoma. Results The prevalence of lower lid epiblepharon was higher in patients with congenital glaucoma compared with control group (40.7% vs 13.3%, p<0.001). Unilateral epiblepharon was only shown in patients with congenital glaucoma (47.8% vs 0.0%, p<0.001). Multivariate analysis revealed that high intraocular pressure (IOP) at glaucoma diagnosis (OR=1.122), presence of corneal erosion (OR=82.664) and presence of buphthalmos (OR=12.600) were significantly associated with the presence of lower lid epiblepharon. In addition, unilateral epiblepharon was associated with unilateral buphthalmos and unilateral glaucoma (OR of 49.849 and 7.338, respectively). Conclusions The prevalence of epiblepharon was higher in patients with congenital glaucoma compared with age-matched general population. In patients with congenital glaucoma, epiblepharon was associated with corneal erosions. In addition, buphthalmos and initial high IOP were associated with the development of lower lid epiblepharon. More importantly, unilateral buphthalmos was also significantly associated with unilateral epiblepharon. Therefore, in patients with congenital glaucoma, presence of epiblepharon should be evaluated especially in patients accompanying buphthalmos or corneal erosion. [ABSTRACT FROM AUTHOR]

Background and aims There is a paucity of data in the literature on the surgical management of conjunctival dermolipoma. In this study, we report outcomes of a partial mass excision technique (excision of the portion visible when eyes open) and free conjunctival autograft. Methods Medical records of 13 patients with dermolipoma who had undergone partial mass excision at Seoul National University Hospital from January 1999 to May 2014 were retrospectively reviewed. After resection of the visible part of tumour, including the overlying thick surface conjunctiva, the conjunctival defects were reconstructed with free conjunctival autograft harvested from the contralateral superior bulbar area. Results The median postoperative follow-up period was 5 months (range 1-84 months). The cosmetic surgical results were satisfactory in all 13 patients. Three patients showed thick texture on the grafted surgical area postoperatively, but there was no significant scar formation resulting in restrictive symblepharon or eye movement limitation. There were no other significant complications, such as blepharoptosis, diplopia or keratoconjunctivitissicca during the follow-up period. Conclusions Partial mass (visible part only) excision, including that of the overlying thick conjunctiva, and free conjunctival autograft from the opposite eye, is a relatively simple and effective technique for the surgical management of conjunctival dermolipoma. [ABSTRACT FROM AUTHOR]

Aim To evaluate the surgical outcome after the insertion of smooth surface tunnel porous polyethylene orbital implants (Medpor SST) in children with retinoblastoma. Methods 44 consecutive children with retinoblastoma who underwent primary enucleation and Medpor SST implantation at Seoul National University Hospital from November 2004 to August 2009, with at least 24 months of follow-up were included. A retrospective review of cases was performed. Results Mean age at the time of surgery was 24.7 months (range 1-65 months). The diameter of the spherical implant was 20 mm in 36 patients (81.8%) and 18 mm in 8 patients (18.2%). During a mean follow-up period of 60.1 months (range 26-93 months), there were no cases of implant exposure, extrusion or infection. Transient conjunctival thinning developed in three patients, but all resolved with conservative treatment. Anophthalmic socket complications such as lower lid malposition (retraction or entropion) (n=10, 22.7%), blepharoptosis (n=8, 18.2%) and enophthalmos (n=2, 4.5%) developed, but most showed acceptable cosmesis. Conclusions Medpor SST is relatively safe, allowing for a mean follow-up of 5 years in terms of implant exposure, and may be a good choice of orbital implant for children with retinoblastoma. [ABSTRACT FROM AUTHOR]