Serous maculopathy with absence of retinal pigment epithelium (SMARPE) associated with large drusen.

Purpose: To describe the association of serous maculopathy with absence of retinal pigment epithelium (SMARPE) and large drusen in patients with non-neovascular age-related macular degeneration (AMD).

Methods: A retrospective study of ophthalmic examination and multimodal imaging data of individuals with SMARPE and large drusen observed over a period of 12-month was accomplished. SMARPE was defined as subretinal accumulation of fluid within the macular area due to retinal pigment epithelium (RPE) aperture.

Optimizing Visualization of Membranes in Macular Surgery With Heads-Up Display.

Background And Objective: To determine which optical parameter profiles (OPPs) can be utilized to improve the visualization of epiretinal membranes (ERMs) and the internal limiting membrane (ILM) using a three-dimensional heads-up microscope during 25-gauge pars plana vitrectomy.

Patients And Methods: Fourteen independent graders were asked to complete a questionnaire comparing each of the OPPs against the unaltered control image for each given surgical case.

Results: Analysis of the graders' responses indicated that higher values of hue are correlated with better visualization of ERM/ILM before and after dye application.

Morphological and functional findings in Alström syndrome: a study of two families.

Alström syndrome is a rare disorder characterized by mutations to the ALMS1 gene and clinical findings of childhood obesity, diabetes mellitus, dilated cardiomyopathy, sensorineural hearing loss, and progressive cone-rod dystrophy, which may result in blindness. Ocular manifestations occur in the first decade of life with nystagmus, blepharospasm, and photophobia leading to progressive and severe reductions in visual acuity. This study describes the retinal structure and functional aspects of four patients (8 eyes) from two different families as determined by optical coherence tomography (OCT), fundus autofluorescence, and full-field electroretinography.

Progressive constriction of the hyperautofluorescent ring in retinitis pigmentosa.

Purpose: To evaluate the constriction of the hyperautofluorescent ring over time in patients with retinitis pigmentosa (RP).

Design: Prospective study.

Methods: Fourteen eyes of 14 RP patients with a hyperautofluorescent ring were studied.

Axonal electrovisiogram as an electrophysiological test to evaluate optic nerve and inner retina electrical potentials: findings in normal subjects.

Purposes: To standardize and validate the technique of axonal electrovisiogram (AxEvg), defining its normative values and parameters and characterizing its findings in normal individuals.

Methods: We enrolled 140 normal individuals (280 eyes) divided into seven groups according to age, each one with 10 males and 10 females. The technique was based on monocular visual stimulation by a 0 dB intensity bright flash on Ganzfeld bowl at a presentation rate of 1.

Unilateral electronegative ERG in a presumed central retinal artery occlusion.

A unilateral electronegative electroretinogram (ERG) was seen in a 94-year-old man with presumed central retinal artery occlusion. Goldmann perimetry revealed central scotoma in the right eye and no abnormalities in the left eye. Full-field ERG in the right eye described a reduction of the b-wave with a relative preservation of the a-wave which is characteristic of electronegative ERG.

Autofluorescence and High-Resolution OCT Findings Revealed Ciliopathy in Senior-Loken Syndrome.

To describe novel findings on fundus autofluorescence (FAF) and high-resolution optical coherence tomography (OCT) in a 27-year-old woman with the Senior-Loken syndrome (SLSN) emphasizing the photoreceptors' cilia appearance in the macula. The patient had renal transplantation early in life and poor visual acuity due to advanced autosomal recessive retinitis pigmentosa. FAF showed diffuse spots of decreased autofluorescence in the mid-periphery and a perifoveal ring of increased autofluorescence suggesting a bull's eye maculopathy.

Structural assessment of hyperautofluorescent ring in patients with retinitis pigmentosa.

Purpose: To analyze the retinal structure underlying the hyperautofluorescent ring visible on fundus autofluorescence in patients with retinitis pigmentosa.

Methods: Twenty-four eyes of 13 patients with retinitis pigmentosa, aged 13 years to 67 years, were studied. The integrity of the photoreceptor cilia, also known as the inner/outer segment junction of the photoreceptors, the outer nuclear layer, and retinal pigment epithelium, was evaluated outside, across, and inside the ring with spectral-domain optical coherence tomography (OCT).

Fundus autofluorescence in cone dystrophy.

Purpose: To describe fundus autofluorescence (FAF) finding in a case of cone dystrophy.

Methods: Interventional case report.

Results: A 23-year-old woman presented with increasing photophobia and decreasing vision in both eyes for 2 years.

G1961E mutant allele in the Stargardt disease gene ABCA4 causes bull's eye maculopathy.

The aim of this study was to characterize the pathological and functional consequences of the G1961E mutant allele in the Stargardt disease gene ABCA4. Data from 15 patients were retrospectively reviewed and all the patients had at least one G1961E mutation. Comprehensive ophthalmic examination, full-field and pattern electroretinograms, and fundus autofluorescence (FAF) imaging were performed on all patients.

Structural assessment of PITX2, FOXC1, CYP1B1, and GJA1 genes in patients with Axenfeld-Rieger syndrome with developmental glaucoma.

Purpose: Axenfeld-Rieger (AR) is an autosomal dominant disorder with phenotypic heterogeneity characterized by anterior segment dysgenesis, facial bone defects, and redundant periumbilical skin. The PITX2 gene, on chromosome 4q25, and the FOXC1 gene, on chromosome 6p25, have been implicated in the different phenotypes of the syndrome through mutational events. Recently, the CYP1B1 gene was found to be associated with Peters' anomaly, and the gene associated with oculodentodigital dysplasia syndrome, which presents some similarities with AR, was identified (connexin 43--GJA1 gene).