Assessing Retinal Structure In Complete Congenital Stationary Night Blindness and Oguchi Disease

Purpose To examine retinal structure and changes in photoreceptor intensity after dark adaptation in patients with complete congenital stationary night blindness and Oguchi disease. Design Prospective, observational case series. Methods We recruited 3 patients with complete congenital stationary night blindness caused by mutations in GRM6, 2 brothers with Oguchi disease caused by mutations in GRK1, and 1 normal control. Retinal thickness was measured from optical coherence tomography images. Integrity of the rod and cone mosaic was assessed using adaptive optics scanning light ophthalmoscopy. We imaged 5 of the patients after a period of dark adaptation and examined layer reflectivity on optical coherence tomography in a patient with Oguchi disease under light- and dark-adapted conditions. Results Retinal thickness was reduced in the parafoveal region in patients with GRM6 mutations as a result of decreased thickness of the inner retinal layers. All patients had normal photoreceptor density at all locations analyzed. On removal from dark adaptation, the intensity of the rods (but not cones) in the patients with Oguchi disease gradually and significantly increased. In 1 Oguchi disease patient, the outer segment layer contrast on optical coherence tomography was 4-fold higher under dark-adapted versus light-adapted conditions. Conclusions The selective thinning of the inner retinal layers in patients with GRM6 mutations suggests either reduced bipolar or ganglion cell numbers or altered synaptic structure in the inner retina. Our finding that rods, but not cones, change intensity after dark adaptation suggests that fundus changes in Oguchi disease are the result of changes within the rods as opposed to changes at a different retinal locus

Topline Results From Prospective, Double-masked, Placebo Controlled Phase 2 Clinical Study Evaluating Luminate® (ALG-1001) in Patients with Symptomatic Focal Vitreomacular Adhesion

Purpose : To investigate the safety and efficacy of Luminate (ALG-1001), a synthetic anti-angiogenic and vitreolytic oligopeptide, administered intravitreally in patients with focal vitreomacular adhesion (VMA) or vitreomacular traction (VMT)

Efficacy of Sustained Topical Dorzolamide Therapy for Cystic Macular Lesions in Patients with Retinitis Pigmentosa and Usher Syndrome

Objectives: To determine the efficacy for sustained use of topical therapy with dorzolamide hydrochloride 2% on visual acuity and cystic macular lesions in retinitis pigmentosa (RP) and Usher (USH) syndrome patients. Design: Retrospective case series. Setting: University hospital. Patients: Sixty-four eyes of 32 patients with RP or USH syndrome who received treatment with topical dorzolamide formulation for a duration ranging from 6-58 months were enrolled. Main Outcome Measures: Changes in visual acuity (ETDRS) and central foveal zone thickness on optical coherence tomography during follow-up for the duration of treatment. Results: Among the study cohort, a positive response occurred in 20 of 32 patients (63%) in at least one eye and in 13 patients (41%) in both eyes. Four patients (20%) showed an initial response and a subsequent rebound of macular cysts. In 8 patients (25%) there was no response to treatment and the macular cysts worsened when compared with the pretreatment level. Ten patients (31%) had improvement in visual acuity by ≥7 letters in at least one eye at the most recent follow-up visit. Sixteen patients (67%) showed a reduction of >11% in the central foveal zone thickness in at least one eye when compared with the pretreatment level. Conclusion: Treatment of cystoid macular edema with topical dorzolamide in patients with either RP or USH syndrome and followed by an OCT-guided strategy showed a decrease in central foveal zone thickness in the majority of cases. Visual acuity improved in almost 1/3 of the cases, suggesting a potential corresponding visual benefit

TOPICAL DORZOLAMIDE FOR TREATMENT OF CYSTOID MACULAR EDEMA IN PATIENTS WITH CHOROIDEREMIA

PURPOSE: To determine the value of a topical carbonic anhydrase inhibitor on the macular thickness and function in choroideremia patients with cystoid macular edema (CME). METHODS: Two choroideremia patients with CME, observed by spectral-domain optical coherence tomography (SD-OCT), were treated with a topical form of carbonic anhydrase inhibitor. Examinations performed before and during treatment included: best corrected visual acuity (BCVA) by using the Early Treatment Diabetic Retinopathy Study (ETDRS) charts, contrast sensitivity measured with briefly presented grating targets (grating CS) and the Pelli-Robson chart (P-R CS), microperimetry (MP), and SD-OCT. RESULTS: The two choroideremia patients treated with dorzolamide 2% formulation had a noticeable reduction in macular thickness by SD-OCT. This reduction was found in both eyes after 2 months of treatment. After an additional 3 months of the same treatment regimen, a more noticeable reduction in macular thickness was observed. The two study patients had improvement of their visual acuity, in at least one eye, on ETDRS charts, but no clinically significant changes for the other measures of visual function. CONCLUSION: The present study shows the potential efficacy of topical dorzolamide for treating choroideremia patients with CME

Structural and Functional Characteristics in Carriers of X-Linked Retinitis Pigmentosa with a Tapetal-Like Reflex

Purpose: to identify the functional and structural characteristics in three female obligate carriers of X-linked retinitis pigmentosa (XLRP) from the same family by using spectraldomain OCT (SD-OCT), fundus autofluorescence (FAF), and microperimetry (MP). Methods: Three female obligate carriers with a tapetal-like reflex (TLR), 21, 49, and 57 years of age, from a single family of XLRP that was seen in the ophthalmology department at the University of Illinois at Chicago, were enrolled in the study. All carriers underwent a complete ophthalmic examination. SD-OCT measurements, a macular MP exam, and FAF testing were performed. Results: The SD-OCT exam in all three carriers showed a normal retinal micro-structure and thickness. Microperimeter testing showed subnormal retinal sensitivity in the areas of the TLR. FAF exam showed the presence of speckled areas of enhanced AF. Conclusions: Our study demonstrates that the carriers of XLRP with a TLR can show an enhanced reflectance on infrared images, abnormal autofluorescence properties, elevated retinal thresholds, and a normal retinal morphology within the posterior pole on SD-OCT testin

Spectral-domain OCT peripapillary retinal nerve fibre layer thickness measurements in patients with stargardt disease

Aims To evaluate the presence of peripapillary retinal nerve fibre layer (RNFL) defects in patients with Stargardt disease by using spectral-domain optical coherence tomography (SD-OCT). Methods Fifty-two eyes of 27 patients with Stargardt disease underwent peripapillary RNFL thickness measurements using SD-OCT. Results Twenty-seven patients with Stargardt disease were enrolled. Their mean (6SD) age was 38.3 (14.7) years. Fourteen patients (51.9%) showed a thinning of the peripapillary RNFL in one or more quadrants in at least one eye, and four patients (14.8%) in both eyes. Five patients (18.5%) showed a thickening of the peripapillary RNFL in at least one eye, and four patients (14.8%) in both eyes. Conclusion This study demonstrated the presence of defects in the peripapillary RNFL thickness in patients with Stargardt disease by using SD-OCT. It would be clinically prudent that Stargardt patients considered for various treatment options be considered for RNFL thickness measurements

Efficacy for Sustained Use of Topical Dorzolamide for Treatment of Cystic Macular Lesions in Patients with X-Linked Retinoschisis (XLRS)

Objectives: To determine the efficacy for sustained use of topical 2% dorzolamide on visual acuity (VA) and macular cystic-appearing lesions in XLRS patients. Design: Retrospective analysis. Setting: University hospital tertiary care referral. Patients: Twenty nine eyes of 15 patients with XLRS on treatment with topical 2% dorzolamide for a duration ranged from 4-41 months were enrolled. Main Outcome Measures: Changes in VA, cystic macular lesions, and central foveal zone (CFZ) thickness on optical coherence tomography over a treatment duration follow-up (FU) period. Results: Among the 15 patients with XLRS, 20 eyes (68.9%) of 11 patients showed a positive response to treatment. Five of the 20 eyes (25.0%) in 3 of these 11 patients showed an initial response and a subsequent rebound of macular cysts. In 4 eyes (13.8%) of 3 patients, there was no response to treatment but the macular cysts did not worsen when compared to a baseline level. In five additional eyes (17.3%) of 4 patients, there was also no response to treatment and the macular cysts worsened when compared to a baseline level. Sixteen eyes (55.2%) of 12 patients had improvement in VA by ≥7 letters in at least one eye at the most recent FU visit. Seventeen eyes (58.6%) of 10 patients showed a reduction in the CFZ thickness in at least one eye when compared to the pretreatment level. Conclusion: In our cohort of XLRS patients, we observed that such patients have the potential to experience a beneficial effect from sustained treatment of 2% dorzolamide