Contrast sensitivity deficits in patients with mutation-proven inherited retinal degenerations.

BACKGROUND: Patients with retinal diseases frequently complain of poor visual function even when visual acuity is relatively unaffected. This clinical finding has been attributed to deficits in contrast sensitivity (CS). The purpose of our study was to evaluate the CS in patients with clinical and genetic diagnosis of inherited retinal degeneration (IRD) and relatively preserved visual acuity. METHODS: Seventeen patients (30 eyes) with IRD and visual acuity of 20/40 or better, and 18 controls (18 eyes) without any ocular condition underwent slit lamp examination, visual acuity testing via standard Snellen chart testing, CS testing via the Quick Contrast Sensitivity Function (QCSF), and Spectral Domain Optical Coherence Tomography (SD-OCT). CS were measured at 1.0, 1.5, 3.0, 6.0, 12.0, and 18.0 cycles per degree (cpd). T tests with general estimated equations were used to compare CS between groups. Wald chi square followed by pairwise comparisons was used to compare CS between multiple groups. RESULTS: We included 12 patients with rod-cone dystrophy (RCD), 3 patients with Stargardt disease (STGD) and 2 patients with Best disease. Patients with IRD had significantly worse CS than controls (p < 0.001) in all spatial frequencies. Patients with STGD had more marked deficits in CS than patients with Best disease (p < 0.001) and RCD (p < 0.001) despite having similar visual acuities. CONCLUSION: Patients with IRD, especially patients with STGD with relatively preserved visual acuity have marked deficits in CS when measured across a range of spatial frequencies. We recommend that clinical trials for STGD incorporate CS measured over a range of spatial frequencies as a secondary clinical endpoint for monitoring visual function. CS may provide an explanation for complaints of visual dysfunction when visual acuity is not significantly altered.

Safety and Efficacy of Photodynamic Therapy in the Treatment of Circumscribed Choroidal Hemangioma: A Systematic Review.

Circumscribed choroidal hemangioma (CCH) is a sort of non-malignant hamartomatous tumor that occurs in the choroidal layer of the eye. It is a rare condition that affects people between their second and fourth decades of life, leading to significant deterioration of vision. One of the most catastrophic consequences of CCH is exudative retinal detachment (ERD), which has a severe impact on vision. This review aims to comprehensively assess the safety and efficacy of photodynamic therapy (PDT) using verteporfin as a therapeutic approach. Using the eligibility criteria, we analyzed the findings of 18 published articles from PubMed, Web of Science, Scopus, and Cochrane. The standard PDT protocol was used in all included studies, except two (one used half-dose, the other one used the double-dose) with an average of 1-2 sessions. PDT induced substantial tumor regression, with a mean thickness range from 0 to 2.3 mm. However, this contrasted with a previous study that reported a thickness of 3.46 mm as an indication of PDT failure. The mean tumor diameter varied from 4.8 mm to total tumor flattening. A suboptimal effect with a mean diameter ranging from 6mm to 8mm was found in two clinical studies. Significant improvement in vision was observed during the last follow-up, ranging from a normalization of Best Corrected Visual Acuity (BCVA) 20/20 to 20/80; counting finger vision persisted in two patients even after treatment. PDT successfully achieved complete subretinal fluid (SRF) resolution in 14 studies and resolved ERD in nine articles. Most studies did not report serious adverse events, but some reported macular atrophy, microcystic degeneration of the retina, transient visual disturbances, Retinal pigmented epithelium (RPE) metaplasia, and cystic degeneration of the retina. This systemic review demonstrated PDT's effectiveness and safety as a first-line management modality for CCH. Photodynamic therapy efficiently induced tumor regression, resulting in a notable reduction in both tumor diameter and thickness, with optimal efficacy to improve vision and resolution of the consequences of CCH, such as SRF and ERD.

Retinal Detachment in Down Syndrome: Characteristics and Surgical Outcomes.

Purpose. To determine the functional and anatomic outcomes of rhegmatogenous retinal detachment (RRD) surgery in patients with Down syndrome. Methods. A retrospective chart review was performed of patients with Down syndrome who had undergone surgery for RRD at King Khalid Eye Specialist Hospital between 1995 and 2014. Results. A total of 245 patients with Down syndrome were evaluated during the study period. Eighteen eyes of 15 patients (6.1%) with RRD were identified. Three out of 15 patients (20%) presented with bilateral retinal detachment. All eyes presented with macula off retinal detachment. The retina was successfully reattached in 16/18 (88.8%) eyes after a mean follow-up of 48 months. The final postoperative visual acuity ranged from light perception to 20/125 (median: hand motion) (11/18 eyes). Conclusions. The anatomic success rate of retinal reattachment surgery in patients with Down syndrome is comparable to the general population. Patients with Down syndrome should undergo regular ophthalmic examinations for early diagnosis. Despite late diagnosis and the presence of proliferative vitreoretinopathy (PVR) in some patients, favorable anatomical outcomes can be achieved.