Non-vasogenic cystoid maculopathies.

Besides cystoid macular edema due to a blood-retinal barrier breakdown, another type of macular cystoid spaces referred to as non-vasogenic cystoid maculopathies (NVCM) may be detected on optical coherence tomography but not on fluorescein angiography. Various causes may disrupt retinal cell cohesion or impair retinal pigment epithelium (RPE) and Müller cell functions in the maintenance of retinal dehydration, resulting in cystoid spaces formation. Tractional causes include vitreomacular traction, epiretinal membranes and myopic foveoschisis.

Novel Variants Associated with Cone-Rod Dystrophy and Early-Onset Severe Retinal Dystrophy.

Variants of the gene, which encodes tubulin tyrosine ligase-like family member five, are a rare cause of cone dystrophy (COD) or cone-rod dystrophy (CORD). To date, only a few patients have been clinically and genetically described. In this study, we report five patients harbouring biallelic variants of Four adult patients presented either COD or CORD with onset in the late teenage years.

Partial recovery of visual function in a blind patient after optogenetic therapy.

Optogenetics may enable mutation-independent, circuit-specific restoration of neuronal function in neurological diseases. Retinitis pigmentosa is a neurodegenerative eye disease where loss of photoreceptors can lead to complete blindness. In a blind patient, we combined intraocular injection of an adeno-associated viral vector encoding ChrimsonR with light stimulation via engineered goggles.

Phenotype Analysis of Retinal Dystrophies in Light of the Underlying Genetic Defects: Application to Cone and Cone-Rod Dystrophies.

Phenotypes observed in a large cohort of patients with cone and cone-rod dystrophies (COD/CORDs) are described based on multimodal retinal imaging features in order to help in analyzing massive next-generation sequencing data. Structural abnormalities of 58 subjects with molecular diagnosis of COD/CORDs were analyzed through specific retinal imaging including spectral-domain optical coherence tomography (SD-OCT) and fundus autofluorescence (BAF/IRAF). Findings were analyzed with the underlying genetic defects.

MERTK mutation update in inherited retinal diseases.

MER tyrosine kinase (MERTK) encodes a surface receptor localized at the apical membrane of the retinal pigment epithelium. It plays a critical role in photoreceptor outer segment internalization prior to phagocytosis. Mutations in MERTK have been associated with severe autosomal recessive retinal dystrophies in the RCS rat and in humans.

AUTOSOMAL DOMINANT VITREORETINOCHOROIDOPATHY: When Molecular Genetic Testing Helps Clinical Diagnosis.

Purpose: Autosomal dominant vitreoretinochoroidopathy is an extremely rare disease, which belongs to the BEST1-related disease spectrum.

Methods: Report of five patients with an initial diagnosis of atypical rod-cone dystrophy, for whom autosomal dominant vitreoretinochoroidopathy was retrospectively diagnosed on genetic results using targeted next-generation sequencing. Each patient had a comprehensive ophthalmic examination including multimodal retinal imaging and functional evaluation.

Multimodal imaging and functional correlations identify unusual cases of macular retinal pigment epithelium hypopigmentation occurring without functional loss.

Purpose: Patients with unusual macular retinal pigment epithelium (RPE) hypopigmentation are described and analyzed using retinal multimodal imaging.

Methods: We report three cases of patients with unilateral (2) or bilateral (1) macular lesions discovered incidentally on fundoscopy. A comprehensive ophthalmic examination including visual acuity, fundoscopy, spectral-domain optical coherence tomography (SD-OCT), short-wavelength light and near-infrared autofluorescence, fluorescein angiography, microperimetry, multifocal electroretinogram, adaptive optics (AO), and OCT-angiography (OCT-A) has been performed.

Size and vitreomacular attachment of primary full-thickness macular holes.

Purpose: To study the relationship between the size of primary full-thickness macular hole (MH) and the vitreomacular attachment status.

Design: Single-centre retrospective observational case series.

Methods: The records of 100 consecutive eyes operated for primary full-thickness MH were retrospectively reviewed.

[Ranibizumab and exudative age-related macular degeneration: 5-year multicentric functional and anatomical results in real-life practice].

Purpose: The goal of this study was to evaluate five year functional and anatomical outcomes of wet AMD patients treated with ranibizumab according to a pro re nata (PRN) regimen in real-life practice.

Methods: A retrospective, multicentric chart review of 201 eyes of 201 patients who underwent their first ranibizumab intravitreal injection (IVT) between January 1, 2007 and December 31, 2008 was performed. Best-corrected visual acuity (BCVA), central macular thickness (CMT) on SD-OCT, number of IVT and follow-up visits were collected at baseline and during the entire follow-up period of 5 years.

Next-generation sequencing applied to a large French cone and cone-rod dystrophy cohort: mutation spectrum and new genotype-phenotype correlation.

Background: Cone and cone-rod dystrophies are clinically and genetically heterogeneous inherited retinal disorders with predominant cone impairment. They should be distinguished from the more common group of rod-cone dystrophies (retinitis pigmentosa) due to their more severe visual prognosis with early central vision loss. The purpose of our study was to document mutation spectrum of a large French cohort of cone and cone-rod dystrophies.

Ranibizumab for exudative age-related macular degeneration: A five year study of adherence to follow-up in a real-life setting.

Purpose: To analyze adherence to follow-up over 5 years in patients treated with intravitreal ranibizumab for exudative age-related macular degeneration (AMD) in a tertiary health care center. To investigate factors associated with failure to continue follow-up.

Methods: Retrospective chart review of all consecutive patients with exudative AMD, who received their first intravitreal ranibizumab injection at the Créteil Intercommunal University Hospital Eye Clinic between October 1, 2006 and March 31, 2007.

Targeted next generation sequencing identifies novel mutations in RP1 as a relatively common cause of autosomal recessive rod-cone dystrophy.

We report ophthalmic and genetic findings in families with autosomal recessive rod-cone dystrophy (arRCD) and RP1 mutations. Detailed ophthalmic examination was performed in 242 sporadic and arRCD subjects. Genomic DNA was investigated using our customized next generation sequencing panel targeting up to 123 genes implicated in inherited retinal disorders.

Ophthalmologic impairment during adulthood in central congenital hypoventilation syndrome: a longitudinal cohort analysis of nine patients.

Background: Congenital central hypoventilation syndrome (CCHS) is a rare dysgenetic form of neurocristopathy associated with dysfunction of the autonomic nervous system. Ophthalmologic abnormalities are reported in CCHS children, and range from pupillary and iris abnormalities to ptosis, strabismus and convergence deficiency. Since earlier CCHS diagnosis and multidisciplinary management, combined with improved ventilatory support techniques, the lifespan of children with CCHS has been considerably lengthened.

[Bitemporal hemianopia as presenting sign of severe ethambutol toxicity].

Introduction: Optic neuropathy is a severe and well-known complication of ethambutol treatment. If not detected early, it may lead to profound and irreversible vision loss.

Case Report: We report the case of a 83-year-old female patient, referred for rapidly progressive, painless, bilateral visual loss, unimproved after bilateral cataract surgery.

Intravitreal dexamethasone implant (Ozurdex) for macular edema secondary to retinitis pigmentosa.

Background: To evaluate the anatomical and functional outcomes of intravitreal dexamethasone implant in patients with macular edema (ME) secondary to retinitis pigmentosa (RP).

Methods: Three patients (four eyes), aged 24 to 46 years, presented with refractory ME secondary to RP. Intravitreal dexamethasone implant (Ozurdex) was administered to treat ME.