Whole-exome sequencing identifies KIZ as a ciliary gene associated with autosomal-recessive rod-cone dystrophy.

Rod-cone dystrophy (RCD), also known as retinitis pigmentosa, is a progressive inherited retinal disorder characterized by photoreceptor cell death and genetic heterogeneity. Mutations in many genes have been implicated in the pathophysiology of RCD, but several others remain to be identified. Herein, we applied whole-exome sequencing to a consanguineous family with one subject affected with RCD and identified a homozygous nonsense mutation, c.

Distinctive glial and neuronal interfacing on nanocrystalline diamond.

Direct electrode/neuron interfacing is a key challenge to achieve high resolution of neuronal stimulation required for visual prostheses. Neuronal interfacing on biomaterials commonly requires the presence of glial cells and/or protein coating. Nanocrystalline diamond is a highly mechanically stable biomaterial with a remarkably large potential window for the electrical stimulation of tissues.

[Scleritis and episcleritis: diagnosis and treatment].

Episcleritis and scleritis are distinct entities with regard to visual prognosis, risk of associated systemic disease, and treatment. The pertinence of the clinical classification of episcleritis and scleritis established in 1976 still persists, with significant differences in terms of visual prognosis, associated general conditions, and therapeutic choices according to each scleritis subtype. Episcleritis requires rarely to be referred to a tertiary care centre, and if so it has to be monitored similarly to scleritis.

Lrit3 deficient mouse (nob6): a novel model of complete congenital stationary night blindness (cCSNB).

Mutations in LRIT3, coding for a Leucine-Rich Repeat, immunoglobulin-like and transmembrane domains 3 protein lead to autosomal recessive complete congenital stationary night blindness (cCSNB). The role of the corresponding protein in the ON-bipolar cell signaling cascade remains to be elucidated. Here we genetically and functionally characterize a commercially available Lrit3 knock-out mouse, a model to study the function and the pathogenic mechanism of LRIT3.

Reproducibility of manifest refraction between surgeons and optometrists in a clinical refractive surgery practice.

Purpose: To measure and compare the interobserver reproducibility of manifest refraction according to a standardized protocol for normal preoperative patients in a refractive surgery practice.

Setting: Private clinic, London, United Kingdom.

Design: Retrospective case series.

Monochromatic Pupillometry in Unilateral Glaucoma Discloses no Adaptive Changes Subserved by the ipRGCs.

Purpose: To detect signs of a possible adaptive mechanism of the intrinsically photosensitive ganglion cells in unilateral glaucoma.

Method: Eleven patients with unilateral glaucoma, classified by automated perimetry (glaucoma: mean deviation <0), were studied by monochromatic pupillometry, employing red (660 nm) or blue (470 nm) light, and by optical coherence tomography of the peripapillary retinal nerve fiber layer. The main outcome measure in pupillometry, the area under the curve (AUC), i.

[Early macular edema after phacoemulsification and suspected overdose of cefuroxime: report of six cases].

Antibiotic prophylaxis by intracameral cefuroxime injection, 1mg/0.1 mL after cataract surgery is increasing in popularity. Several cases of early postoperative macular edema have recently been reported after cefuroxime injection, most of them due to accidental cefuroxime overdose.

Involvement of Bcl-2-associated transcription factor 1 in the differentiation of early-born retinal cells.

Retinal progenitor proliferation and differentiation are tightly controlled by extrinsic cues and distinctive combinations of transcription factors leading to the generation of retinal cell type diversity. In this context, we have characterized Bcl-2-associated transcription factor (Bclaf1) during rodent retinogenesis. Bclaf1 expression is restricted to early-born cell types, such as ganglion, amacrine, and horizontal cells.

Small incision lenticule extraction (SMILE) history, fundamentals of a new refractive surgery technique and clinical outcomes.

This review summarizes the current status of the small incision lenticule extraction (SMILE) procedure. Following the early work by Sekundo et al. and Shah et al.

Activation of cerebellar lobules VI-VII during motor imagery but not during motor activation in unilateral cerebellar hypoplasia.

We report the case of a 25 year-old patient who underwent morphological and functional brain magnetic resonance imaging (fMRI) to investigate a left neocerebellar hypoplasia discovered incidentally. We compared brain activation during overt and covert finger movements, and haptic discrimination. The contralateral cerebellar hemisphere compensated for mental imagery of hand movements and haptic discrimination, but not for motor execution.

Corneal radius of curvature after anterior lamellar versus penetrating keratoplasty.

Background: Keratoplasty may induce major spherical refractive error related to abnormal corneal radius of curvature (CRC).

Methods: Two hundred and thirty-eight consecutive eyes of 238 patients with clear graft and at least one postoperative Orbscan examination performed after suture removal (average follow-up time, 86 months) were retrospectively analyzed. Anterior lamellar keratoplasties (ALK group, n = 119) and penetrating keratoplasties (PK group, n = 119) were matched for preoperative diagnosis and lens status.

[Evaluation of preoperative anxiety in patients requiring glaucoma filtration surgery].

Purpose: Preoperative anxiety is often expressed by patients requiring filtration surgery for their glaucoma. So far, there has been no scale for screening this group of patients for preoperative anxiety. The Amsterdam Preoperative Anxiety and Information Scale (APAIS) is a self-evaluation questionnaire which has been used in specialties other than ophthalmology and which makes it possible to identify the adult patients with a high level of preoperative anxiety over an upcoming surgical procedure.

[Results of natural hydroxyapatite implants covered with Vicryl® mesh in a series of 704 enucleations].

Purpose: Retrospective study of local tolerability of a natural hydroxyapatite orbital implant wrapped with Vicryl(®) (polyglactin) mesh in patients undergoing enucleation.

Method: Complications were classified into four types according to their management: type 1 if no reoperation was required, type 2 if additional surgery without grafting was required, type 3 if an oral mucosal graft was performed (major dehiscence) and type 4 if the complication required removal of the implant.

Results: Seven hundred and four patients with a median follow-up of 44 months.

CCR2(+) monocytes infiltrate atrophic lesions in age-related macular disease and mediate photoreceptor degeneration in experimental subretinal inflammation in Cx3cr1 deficient mice.

Atrophic age-related macular degeneration (AMD) is associated with the subretinal accumulation of mononuclear phagocytes (MPs). Their role in promoting or inhibiting retinal degeneration is unknown. We here show that atrophic AMD is associated with increased intraocular CCL2 levels and subretinal CCR2(+) inflammatory monocyte infiltration in patients.

Role of hyperosmolarity in the pathogenesis and management of dry eye disease: proceedings of the OCEAN group meeting.

Dry eye disease (DED), a multifactorial disease of the tears and ocular surface, is common and has a significant impact on quality of life. Reduced aqueous tear flow and/or increased evaporation of the aqueous tear phase leads to tear hyperosmolarity, a key step in the vicious circle of DED pathology. Tear hyperosmolarity gives rise to morphological changes such as apoptosis of cells of the conjunctiva and cornea, and triggers inflammatory cascades that contribute to further cell death, including loss of mucin-producing goblet cells.

[Glaucoma today: detection and therapeutic progress].

Second leading cause of blindness worldwide, glaucoma is an optic neuropathy related mainly but not exclusively to an increase of intraocular pressure. Angle closure glaucoma is related to a blockade of aqueous humor to the trabecular meshwork, whereas open-angle glaucoma is a degeneration of the trabecular meshwork, the filter that allows aqueous outflow from the eye. Many improvements have been made in terms of diagnosis, follow-up and treatments, although the treatment of glaucoma is restricted to control intraocular pressure, in order to prevent optic nerve degeneration or to stop the progression of the disease toward blindness.

RGTA-based matrix therapy in severe experimental corneal lesions: safety and efficacy studies.

Corneal alteration potentially leading to ulceration remains a major health concern in ocular surface diseases. A treatment that would improve both the quality and speed of healing and control the inflammation would be of great interest. Regenerating agents (RGTAs) have been shown to stimulate wound healing and modulate undesired fibrosis in various in vivo systems.

Fourier-domain optical coherence tomography imaging in keratoconus: a corneal structural classification.

Objective: To study corneal morphologic changes in a large keratoconic population and to establish a structural optical coherence tomography (OCT) classification.

Design: Cross-sectional, observational study.

Participants: A total of 218 keratoconic eyes from 218 patients and 34 eyes from 34 normal subjects.

POLG mutations associated with remitting/relapsing neurological events.

Recent experimental data underline the relationship between mitochondria and immune function. Clinical reports of patients presenting with mitochondrial dysfunction associated with dysimmune responses in the central nervous system reinforce this new concept. We describe the first case of a woman presenting with symptoms related to a novel compound heterozygous mutation of the mitochondrial polymerase γ (POLG) gene, associated with neurological events suggestive of a demyelinating process.

[Epithelial basement membrane dystrophy diagnosed following LASIK surgery].

A 48-year-old woman with no significant past history underwent bilateral simultaneous laser in situ keratomileusis for correction of her myopia. On the tenth postoperative day, the patient complained of visual decrease and photophobia. Slit lamp exam showed corneal epithelial irregularities.