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.

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.