Dry eye after Lester Jones tube insertion for epiphora.

Purpose: To report the occurrence of dry eye after Lester Jones tube (LJT) insertion. Methods: Retrospective case series from a single unit. The dacrocystorhinostomy (DCR) was carried out using both endoscopic and external approachs; however, insertion of LJT used the same method as either a primary or secondary procedure. Dry eye as an outcome measure was only confirmed after three separate visits using the presence of both patient symptoms and dry eye signs with none preceding tube insertion. Results: Fifty-four patients underwent consecutive LJT insertion over a 5-year period. Mean age was 52.6 (range 25-73 years). The majority were female 39 (72%). Revision surgery was required in 15 (27%) with 3 or more occurring in 6 (11%). In total, 9 patients developed dry eyes (17%). Mean age was 60 (range 47-73) years, 5 females and 4 males. Four of the dry eye individuals had undergone primary LJT insertion and the remaining five received their first LJT 6-24 (mean 15) months post-DCR. Two dry eye patients had previously undergone LASIK and radiotherapy. Conclusion: A risk of dry eye following LJT placement is higher than the literature suggests. This should be considered and counseled, especially in those who have underlying pre-disposing factors. Ease of removal may be a desirable attribute in such cases.

Post-septal upper eyelid loading for treatment of exposure keratopathy secondary to non-cicatricial lagophthalmos.

Exposure keratopathy may result in ocular surface dryness, pain, corneal ulceration and loss of vision. Upper eyelid loading is an effective surgical treatment for paralytic lagophthalmos but has been criticised for complications of implant exposure and poor cosmesis. We therefore reviewed the safety and efficacy of our technique of upper eyelid post-septal loading for exposure keratopathy in this context. A retrospective case notes analysis was undertaken of 38 patients who had upper eyelid loading, all with post-septal weight placement, for correction of lagophthalmos. Patient demographics, indications for surgery, outcomes and complications were analysed. The mean age of all patients was 59.6 years. Exposure keratopathy was secondary to facial nerve paralysis in all but two patients, with tumor excision being the commonest underlying aetiology (63.8%). The mean implant weight used was 1.4 grams. Pre-operatively, all 38 patients had ocular discomfort despite maximal use of lubricating eye drops but post-operatively, 29 patients (76.3%) were comfortable without any such drops. Mean lagophthalmos on blink and gentle closure improved from 7.42mm and 5.47mm pre-operatively to 2.18mm and 1.18mm post-operatively (p < 0.001). Similarly, before surgery all patients had some corneal staining but after surgery 37 patients (97.4%) had none. The gold weight was removed in four patients (10.5%), due to chronic inflammation in three and due to mild astigmatism in one. No patient had exposure of the weight and one patient had a ptosis repair 6 months after surgery. Upper eyelid loading was effective in reducing both signs and symptoms of exposure keratopathy related to lagophthalmos in our series. Patients were very satisfied with the surgical outcome and complications related to exposure and cosmesis were very rare.

Clinical and genetic studies in a family with a new splice-site mutation in the choroideremia gene.

PURPOSE: To describe the clinical and molecular findings of an Italian family with a new mutation in the choroideremia (CHM) gene. METHODS: We performed a comprehensive ophthalmologic examination, fundus photography, macular optical coherence tomography, perimetry, electroretinography, and fluorescein angiography in an Italian family. The clinical diagnosis was supported by western blot analysis of lymphoblastoid cell lines from patients with CHM and carriers, using a monoclonal antibody against the 415 C-terminal amino acids of Rab escort protein-1 (REP-1). Sequencing of the CHM gene was undertaken on genomic DNA from affected men and carriers; the RNA transcript was analyzed with reverse transcriptase-PCR. RESULTS: The affected men showed a variability in the rate of visual change and in the degree of clinical and functional ophthalmologic involvement, mainly age-related, while the women displayed aspecific areas of chorioretinal degeneration. Western blot did not show a detectable amount of normal REP-1 protein in affected men who were hemizygous for a novel mutation, c.819+2T>A at the donor splicing site of intron 6 of the CHM gene; the mutation was confirmed in heterozygosity in the carriers. CONCLUSIONS: Western blot of the REP-1 protein confirmed the clinical diagnosis, and molecular analysis showed the new in-frame mutation, c.819+2T>A, leading to loss of function of the REP-1 protein. These results emphasize the value of a diagnostic approach that correlates genetic and ophthalmologic data for identifying carriers in families with CHM. An early diagnosis might be crucial for genetic counseling of this type of progressive and still untreatable disease.

Surgical treatment of congenital rhabdoid tumor in a 10-day-old newborn.

BACKGROUND: Malignant rhabdoid tumors are rare and aggressive tumors of pediatric age. The primary tumor can occur in different localizations, but it mainly involves kidney, soft tissue, or central nervous system. It has been associated to a poor diagnosis. METHODS: The authors present the case of a 10-day-old newborn affected by a bulky nasofronto-orbitary neoplasm. The patient underwent radical surgical treatment and further excision of a preauricular metastasis combined with postoperative chemotherapy treatment. RESULTS: The authors adopted a diagnostic and therapeutic protocol according to international guidelines, not without difficulty because the first histological report showed esthesioneuroblastoma. The rarity and aggresivity of rhabdoid tumor and the precocity of onset in our patient presented a difficulty to define prognostic factors and survival rates, as well as therapeutic plan of treatment. CONCLUSIONS: The authors underline the importance of a correct prenatal diagnosis and an early surgical treatment to reach the complete healing of the patient.

Risk factors associated with post-operative uveitis after cataract surgery: a retrospective case-control study.

BACKGROUND/AIM: Post-operative uveitis is the most common complication after cataract surgery in the UK. The study aims to evaluate the risk of post-operative uveitis in cataract surgery patients of different ethnicity in the presence and absence of co-morbidities as well as operative complications using multivariate analysis. METHODS: A retrospective case-control study of patients undergoing phacoemulsification cataract surgery between January 2018 to December 2019 at two hospital sites. Differences in demographic and clinical characteristics were compared between two groups defined by the development of post-operative uveitis. Statistically significant factors in univariate analysis were further analysed using multivariate analysis to account for confounders. RESULTS: One thousand and five hundred eighty seven eyes had undergone phacoemulsification cataract operations with 104 (6.6%) developing post-operative uveitis. Compared to eyes of White/Mixed/Other ethnicity, Asian and Afro-Caribbean eyes were associated with a twofold (OR 2.02, 95% CI 1.16-3.52, P = 0.013) and fivefold (OR 5.15, 95% CI 2.85-9.29, P < 0.001) risk of post-operative uveitis, respectively. Complicated surgery involving eyes with small pupil/iris hooks/Malyugin ring (OR 2.70, 95% CI 1.16-6.30, P = 0.022) and posterior capsular rupture (OR 6.00, 95% CI 2.55-14.12, P < 0.001) were associated with an increased risk of post-operative uveitis. CONCLUSIONS: The factors significantly associated with a post-operative uveitis outcome were patients of Asian and Afro-Caribbean ethnicity, small intra-operative pupil size, use of iris hooks or Malyugin ring and PCR. The post-operative management plan should be tailored in these group of patients with a view of early assessment and prompt management of symptoms.

Branch retinal artery embolization due to calcific aortic valve stenosis.

PURPOSE: Branch retinal artery occlusion caused by calcific embolization secondary to calcific aortic valvulopathy. METHODS: A 45-year-old woman came to our attention complaining a sudden painless loss of her peripheral superior visual field. Best visual acuity was 20/20. Fundus examination revealed the presence of a retinal arterial embolic occlusion of the inferior branch. Fundus retinography, visual field, and fluorescein angiography were performed and medical therapy was started. The echocardiography examination revealed a tricuspid and calcified aortic valve with moderate stenosis and regurgitation. Due to the heart pathology, the patient moved to the cardiosurgery department, where an aortic valve replacement was performed. RESULTS: Four months after cardiac surgery, visual acuity of both eyes was stable (20/20). Fundus examination showed a complete reabsorption of the retinal edema and the resolution of retinal pallor. Fluorescein angiography confirmed the delay of the arterial filling. No retinal ischemia was observed. The visual field examination confirmed the deep scotoma previously registered. CONCLUSIONS: Retinal arterial embolization is a rare but potentially devastating complication of calcific aortic stenosis. Initial retinal presentation of calcific aortic stenosis is a rare condition. Keeping in mind that these emboli may be recurrent and potentially bilateral, a sudden onset of visual field defects, especially in young asymptomatic patients, needs immediate diagnosis and consideration of an urgent surgical correction.

Functional and aesthetic outcomes of eyelid skin grafting in facial nerve palsy.

AIM: To report the functional and aesthetic outcomes of eyelid full-thickness skin grafting (FTSG) in patients with facial nerve palsy (FNP). METHODS: This is a retrospective, non-comparative, single-centre review of all patients with FNP who underwent FTSG over an 8-year period. Functional outcomes were collected through case notes review: CADS (cornea, static asymmetry and dynamic and synkinesis) score facial nerve grading and lagophthalmos on blink, gentle and forced closure. Marginal reflex distance (MRD1 and MRD2) was calculated on standardised photographs. The aesthetic outcomes were assessed objectively by two blinded independent assessors who assessed standardised photographs based on a mutually agreed grading scale. Both functional and aesthetic outcomes were measured preoperatively, and at early (1-3 months), intermediate (3-6 months) and late (>9 months) postoperative periods. RESULTS: A total of 28 eyelid FTSGs were performed on 21 patients (11 female, 10 male) between 2008 and 2016. The mean age was 68 (range, 16-89) years and the mean follow-up was 20.8 (range, 12-30) months. The CADS score (cornea (p<0.001), static asymmetry (p<0.001), dynamic function (p<0.001)), MRD2 (p=0.002) and lagophthalmos (blink (p=0.003), gentle (p<0.001), forced (p=0.003)) improved through early and late postoperative periods. Aesthetically, the grafts appeared to look natural in terms of colour, surface contour and graft edge from the intermediate postoperative period and continued to improve significantly by the late postoperative period. CONCLUSION: The use of periocular FTSG is effective in improving lagophthalmos and periorbital symmetry in patients with FNP where skin contraction exists. They should be considered as an adjunct to other oculoplastic procedures for both functional and aesthetic rehabilitation.

Identification of a novel mutation in the PTCH gene in a patient with Gorlin-Goltz syndrome with unusual ocular disorders.

PURPOSE: To document the clinical, functional, and in vivo microanatomic characteristics of a patient with Gorlin-Goltz syndrome with a novel nonsense mutation in PTCH (patched). METHODS: Optical coherence tomography (OCT), fluorescein angiography, electrophysiologic testing, visual field, magnetic resonance imaging, and mutation screening of PTCH gene. RESULTS: Visual acuity was 20/20 in the right eye and 20/25 in the left. Fundus examination revealed myelinated nerve fibers in the left eye and bilateral epiretinal membranes with lamellar macular hole also documented with macular OCT. A reduction of the retinal nerve fiber layers in both eyes was found with fiber nervous OCT. Fluorescein angiography showed bilaterally foveal hyperfluorescence and the visual field revealed inferior hemianopia in the right eye. Pattern visual evoked potentials registered a reduction of amplitude in both eyes and latency was delayed in the left eye. Pattern electroretinogram showed a reduction in P50 and N95 peak time and a delay in P50 peak time in the left eye. Flash electroretinogram was reduced in rod response, maximal response, and oscillatory potentials in both eyes. Cone response was normal and 30-Hz flicker was slightly reduced in both eyes. Mutation screening identified a novel nonsense mutation in PTCH. CONCLUSIONS: A novel nonsense mutation in the PTCH gene was found. We report the occurrence of epiretinal membranes and the persistence of myelinated nerve fibers. Electrophysiologic and visual field alterations, supporting a neuroretinal dysfunction, were also documented.

Validity and limits of the rebound tonometer (ICare®): clinical study.

PURPOSE: The aim of this study was to evaluate the measurement of intraocular pressure (IOP) using a new induction/impact rebound tonometer (ICare®) compared with Goldmann applanation tonometry (GAT). We also aimed to quantify the systematic and random errors (bias) of the 2 methods, to evaluate the sensitivity and specificity of the ICare® tonometer in identifying patients with 21 mmHg or more measured with the GAT, and to study the influence of corneal thickness on IOP measurement with the 2 tonometers. METHODS: We compared the IOP values obtained with the 2 instruments in 97 patients. RESULTS: Analysis based on the Bland and Altman method revealed that the IOP values recorded with the ICare® tonometer were slightly higher than those obtained with the GAT. The estimated bias for right eye measurements was 0.78 mmHg with 95% limits of agreement ±3.55 mmHg. This overestimation, which is not clinically relevant, was confirmed when we used the IOP values corrected according to central corneal thickness for data analysis. The sensitivity and specificity were 0.90 and 0.95, respectively. CONCLUSIONS: The ICare® tonometer proved to be comparable with other nonconventional tonometers and can be used by nonophthalmologists and paramedical personnel during screening tests of populations. In addition, the ICare® tonometer could be considered a valid alternative to GAT when GAT is not available.