Understanding the relationship between pachychoroid spectrum disorders and retinitis pigmentosa: A review of the evidence.

This study aims to investigate the relationship between pachychoroid spectrum disorders and retinitis pigmentosa (RP) or rod-cone dystrophy through a comprehensive literature review. The purpose is to explore the association between these disorders, understand their underlying mechanisms, and summarize the existing hypotheses and opinions. A thorough review of the literature was conducted using PubMed, focusing on articles related to central serous chorioretinopathy (CSC), RP, pachychoroid pigment epitheliopathy, pachychoroid neovasculopathy, polypoidal choroidal vasculopathy, focal choroidal excavation, peripapillary pachychoroid neovasculopathy, and peripheral exudative hemorrhagic chorioretinopathy. Relevant studies were selected for a detailed narrative review and analysis. Several studies have reported the coexistence of CSC and RP, indicating a potential association between the two conditions. The dysfunction of the retinal pigment epithelium is proposed as a common factor. Choroidal thinning is observed in RP, but conflicting results exist regarding choroidal thickness (CT). While some studies support choroidal thinning in RP, others suggest preserved or increased thickness. Additionally, cases of pachychoroid neovasculopathy and polypoidal choroidal vasculopathy in RP have been reported, suggesting an overlap between these conditions. The literature suggests conflicting reports on CT changes in RP. Future research should focus on large-scale studies using comprehensive imaging techniques, genetic analysis, and long-term follow-up to uncover the underlying mechanisms and determine the prevalence of pachychoroid spectrum disorders in RP patients.

Outcomes of vitreoretinal surgery in eyes with retinitis pigmentosa without retinal detachment.

PURPOSE: Outcomes of retinal detachment (RD) have been discussed in detail in many reports of patients with retinitis pigmentosa (RP). This study tries to understand the outcomes of vitreoretinal (VR) surgery for indications other than RD in the eyes with RP. METHODS: This is a retrospective study that includes clinical data from January 2013 to December 2021. Patients with RP who were treated with a VR surgical intervention were included in the study. The primary outcome of the study was to assess the changes in best-corrected visual acuity. RESULTS: Forty-four eyes of 40 patients with RP were included in the study. Nearly half of the eyes (43%, 19/44) presented from 1 month to 1 year after the onset of diminished vision, with or without floaters. The mean ± standard deviation (SD) best-corrected visual acuity (BCVA) at presentation was 1.30 ± 0.79 logMAR (20/400 ± 20/125). The major surgical indications were vitreous opacities (43.2%, 19/44) and subluxated/dislocated cataractous lenses (25%, 11/44). The median follow-up duration was 8 months (interquartile range (IQR): 1.5-27). Approximately 77% (34/44) of the eyes had improvement in vision. The mean postoperative BCVA at the last follow-up was 0.95 ± 0.73 logMAR (p-value: 0.03). CONCLUSIONS: Most eyes with RP recovered well after VR surgical interventions, with short-term improvements in visual acuity. It may be crucial to address the vitreous opacities and membranes as they hinder the residual central island of vision in RP. However, appropriate counselling is required regarding the progressive nature of retinal neuronal degeneration.

Characterization of retinal hemorrhages delimited by the internal limiting membrane.

Clinically, hemorrhages at the vitreoretinal interface have been termed as 'pre-retinal' in location. However, there is a careful distinction to be made between sub-hyaloid and sub-internal limiting membrane (ILM) planes of blood collection. In the past half-century, a body of literature has accrued on sub-internal limiting membrane hemorrhage. We characterize the etiopathological, clinical, anatomical, and imaging characteristics of this entity (often misconstrued as sub-hyaloid hemorrhage). Management decisions are briefly described, and a unifying term of sub-internal limiting membrane macular hemorrhage is proposed to aid in further research.

Gene Therapy for Inherited Retinal Diseases: From Laboratory Bench to Patient Bedside and Beyond.

This comprehensive review provides a thorough examination of inherited retinal diseases (IRDs), encompassing their classification, genetic underpinnings, and the promising landscape of gene therapy trials. IRDs, a diverse group of genetic conditions causing vision loss through photoreceptor cell death, are explored through various angles, including inheritance patterns, gene involvement, and associated systemic disorders. The focal point is gene therapy, which offers hope for halting or even reversing the progression of IRDs. The review highlights ongoing clinical trials spanning retinal cell replacement, neuroprotection, pharmacological interventions, and optogenetics. While these therapies hold tremendous potential, they face challenges like timing optimization, standardized assessment criteria, inflammation management, vector refinement, and raising awareness among vision scientists. Additionally, translating gene therapy success into widespread adoption and addressing cost-effectiveness are crucial challenges to address. Continued research and clinical trials are essential to fully harness gene therapy's potential in treating IRDs and enhancing the lives of affected individuals.

Clinical profile and demographic distribution of Stargardt disease phenotypes: An Electronic medical record-driven big data analytics from a multitier eye care network.

Purpose: To describe the demographics and clinical profile of Stargardt disease in patients presenting a multitier ophthalmology hospital network in India. Methods: This cross-sectional hospital-based study was performed among 2,834,616 new patients presenting between August 2010 and June 2021 in our network. Patients with a clinical diagnosis of Stargardt disease in at least one eye were included as cases. The data were collected using an electronic medical record system. Results: Overall, 1,934 (0.069%) patients were diagnosed with Stargardt disease. Most of the patients were male (63.14%). The most common age group at presentation was during the second decade of life, with 626 (31.87%) patients. The overall prevalence was higher in patients from a higher socioeconomic status (0.077%), in those presenting from the urban geography (0.079%), and in students (0.197%). Systemic history of hypertension was seen in 56 (2.85%) patients, while diabetes mellitus was seen in (2.49%) patients. Of the 3,917 eyes, 1,910 (48.76%) eyes had moderate visual impairment (>20/70-20/200) followed by severe visual impairment (>20/200 to 20/400) in 646 (16.49%) eyes. The most commonly associated retinal signs were retinal flecks in 1,260 (32.17%) eyes, followed by RPE changes in 945 (24.13%) eyes. The most documented investigations were autofluorescence (39.85%), followed by optical coherence tomography (23.90). Cataract surgery was the commonest performed surgical intervention in (0.66%) eyes, followed by intravitreal injection in 4 (0.10%) eyes. The family history of parent consanguinity marriage was reported by 212 (10.79%) patients. Conclusion: Stargardt disease was seen more commonly in males presenting during the second decade of life. It is predominantly a bilateral disease, with the majority of the eyes having moderate visual impairment.

Globicatella sanguinis Endophthalmitis in a Patient from India.

A 55-year-old lady with bamboo stick injury to her right eye suffered corneal laceration with retained wooden foreign body in the anterior chamber. In the first-sitting corneal laceration repair, lens aspiration with foreign body removal was done. Two days later, she developed signs and symptoms of endophthalmitis for which pars plana vitrectomy with intravitreal antibiotic injection was done. Smear examination of vitreous sample revealed the presence of Gram-positive cocci in pairs and short chains on Gram's stain on the same day. Confluent white, moist, and alpha-hemolyticus bacterial colonies appeared over the inoculum on blood agar and chocolate plates on the next day, which later was identified as Globicatella sanguinis by VITEK-2 compact system. To our knowledge, this is the second reported case of Globicatella-related endophthalmitis; the outcome was favourable in the incumbent case owing to an early intervention and isolate being susceptible to vancomycin.

Clinical and imaging characteristics of outer retinal folds in eyes with retinitis.

Purpose: To describe clinical and imaging characteristics of the outer retinal folds (ORF) in cases of retinitis, retinochoroiditis, and chorioretinitis. Methods: Retrospective review of retinitis cases with presence of ORFs either at presentation or during follow up. Results: ORFs were seen adjacent to retinitis lesions in 16 eyes of 14 cases (retinitis post-febrile illness n = 10, toxoplasma retinochoroiditis n = 2, fungal chorioretinitis n = 2) either at presentation (n = 2) or during follow up (n = 14). Optical coherence tomography (OCT) appearance was outer retinal vertical stout lesions involving ellipsoid, external limiting membrane, and outer nuclear layer. All the cases had a presence of past or concurrent subretinal fluid and/or subretinal hyperreflective material when ORF was seen. ORF resolved with variable outer retinal atrophy over a mean period of 2.86 months. Conclusion: ORF is observed in cases of retinitis with subretinal fluid either at presentation or during resolution. It is not specific to any etiological disease. Differentiation of this sign from vertical outer retinal stripes in viral retinitis on OCT is important to avoid misinterpretation.

Clinical and visual electrophysiological characteristics of vitelliform macular dystrophies in the first decade of life.

Purpose: To evaluate patterns of pediatric vitelliform macular dystrophy (PVMD). Methods: This is a retrospective analysis of Indian children with vitelliform macular dystrophy (VMD) presenting within the first decade of life. Records were evaluated for clinical findings, family screening, and investigative findings including optical coherence tomography (OCT), fundus autofluorescence (FAF), full-field electroretinogram (ERG) and electrooculogram (EOG). Electrophysiology was scrutinized and audited for acquisition and interpretation errors. Findings on follow-up were also recorded. Results: 46 eyes of 24 patients were included. Mean age at presentation was 7.17 ± 2.17 years. Mean follow-up duration was 1.55 ± 1.69 years. Best disease was the commonest type of VMD detected (21 patients), while autosomal recessive bestrophinopathy was seen in three cases. Mean logMAR BCVA was 0.364 which decreased to 0.402 on follow-up. Hyperopia was noted in 29 out of 46 eyes (mean being +3.87 D, range ebing +0.75 to +8.75 D). Four eyes of four children had choroidal neovascular membrane at presentation, while another child developed while in follow-up. Solid type subretinal deposit was the commonest OCT finding (n = 29/38) and central hyper FAF was the commonest pattern (n = 18/32). EOG was available for review in 32 eyes, but was unreliable in 11 eyes. Seven eyes demonstrated complete absence of light rise on EOG. Conclusion: PVMD can present in advanced forms. Progression to complications with loss of visual acuity can happen within the first decade of life. EOG shows grossly suppressed waveforms in the light phase in a large number of such children.

Incidence, predictors and re-treatment outcomes of recurrent myopic choroidal neo-vascularization.

OBJECTIVES: To evaluate incidence, predictors, and re-treatment outcome of recurrent myopic choroidal neovascularization (m-CNV). METHODS: Retrospective consecutive observational series. From year 2014 to 2019, 167 eyes of 167 patients of treatment naïve m-CNV were enrolled. 59 and 108 eyes were treated with intra-vitreal ranibizumab and bevacizumab mono-therapy, respectively. Recurrence was defined as re-appearance of CNV activity, confirmed on optical coherence tomography (OCT) after at least 3 months of cessation of anti-VEGF therapy. Incidence of recurrence, predictors and re-treatment outcomes were studied. RESULTS: Overall, mean age and spherical equivalence (SE) was 47.95 ± 14.72 years and -12.19 ± 4.93 D respectively. Males constituted 50.9%. 44 eyes (26.4%) had a recurrence during a mean follow up of 16.5 ± 12.86 months. Kaplan-Meier survival analysis showed the risk of recurrence was 8, 26 and, 33.6% at 6, 12 and 18 months, respectively. Age (p = 0.511), gender (p = 0.218), SE (p = 0.092), anti-VEGF (p = 0.629) and baseline BCVA (p = 0.519) did not influence recurrence. Number of injections administered to control the disease in the first episode was the only significant predictor of recurrence (Cox Proportional Hazard Ratio 2.89-3.07, 95% Confidence Interval: 1.28-7.45; p = 0.005). At 12 months, eyes requiring one injection in first episode had a recurrence rate of 12% versus 45% in eyes requiring 3 or more injections in the first episode. A mean number of 1.9 additional injections per eye was needed during re-treatment. Final BCVA in the recurrence group was similar to that of non-recurrence group (0.53 ± 0.40 versus 0.55 ± 0.36 LogMAR; p = 0.755). Baseline BCVA (p = 0.0001) was the only predictor of final visual outcome irrespective of anti-VEGF drug (p = 0.38). CONCLUSION: Eyes requiring greater number of injections for disease control in first episode are "at risk" of early m-CNV recurrence. However, recurrence does not adversely affect visual outcome, if treated adequately.

Ophthalmological Manifestations of Oculocutaneous and Ocular Albinism: Current Perspectives.

Albinism describes a heterogeneous group of genetically determined disorders characterized by disrupted synthesis of melanin and a range of developmental ocular abnormalities. The main ocular features common to both oculocutaneous albinism (OCA), and ocular albinism (OA) include reduced visual acuity, refractive errors, foveal hypoplasia, congenital nystagmus, iris and fundus hypopigmentation and visual pathway misrouting, but clinical signs vary and there is phenotypic overlap with other pathologies. This study reviews the prevalence, genetics and ocular manifestations of OCA and OA, including abnormal development of the optic chiasm. The role of visual electrophysiology in the detection of chiasmal dysfunction and visual pathway misrouting is emphasized, highlighting how age-associated changes in visual evoked potential (VEP) test results must be considered to enable accurate diagnosis, and illustrated further by the inclusion of novel VEP data in genetically confirmed cases. Differential diagnosis is considered in the context of suspected retinal and other disorders, including rare syndromes that may masquerade as albinism.

The retinal vascular growth rate in babies with retinopathy of prematurity could indicate treatment need.

Purpose: To analyze the weekly rate of retinal vascular growth in treatment-naïve babies with various stages of retinopathy of prematurity (ROP) and validate if this could be a predictor of treatment need. Methods: Retrospective review of medical charts and retinal images of babies with various stages of ROP. The images were enhanced using red-green image enhancement software. Using the length of the horizontal disc diameter (DD) of each eye, the vessel growth was measured from the disc margin up to the vessel tip in fixed quadrants. The rate of vessel growth was the ratio of vessel length to the number of weeks it took to reach this length. The babies were divided into treatment warranting ROP (group 1), low-risk pre-threshold (type II) ROP (group 2,), and no-ROP (group 3) for analysis. The "no-ROP" group acted as normal control. Group 1 was further subdivided into 1A (threshold ROP), IB (aggressive posterior ROP), 1C (hybrid ROP), and ID (high-risk pre-threshold ROP). Results: Out of 436 eyes, groups 1, 2, and 3 had 238, 108, and 90 eyes, respectively. The mean rate of vascular outgrowth along with 95% confidence interval (CI) was 0.490 [0.487,0.520], 0.612 [0.599, 0.638], and 0.719 [0.703, 0.740] DD/week, respectively, for babies with "treatment warranting," "low risk pre-threshold" and "no ROP" groups, respectively. In our estimate, more than 80% of eyes with a vessel growth rate of 0.54 DD/week or less required treatment. Conclusion: A rate of retinal vascular growth less than 0.54 DD/week can be used to determine treatment requirements in babies with ROP.

Atypical case of retinopathy of prematurity with candle wax-like preretinal deposits and its surprising response to intravitreal antivascular endothelial growth factor.

Presented here is a case of hybrid retinopathy of prematurity (ROP) with features of both aggressive posterior ROP and ridge-like staged ROP with extensive candle wax-like preretinal deposits plastered on the surface of the retina from optic disc to vascular-avascular junction at a postmenstrual age (PMA) of 34 weeks. The baby was too sick for laser photocoagulation and so underwent intravitreal bevacizumab at half adult doses in both eyes. The deposits melted dramatically within 1-2 weeks of antivascular endothelial growth factor injection without any signs of recurrence till the last visit at 58 weeks of PMA.

Punctate Inner Retinal Toxoplasmosis: Case Series and Review of Literature.

PURPOSE: To describe clinical and multimodal imaging characteristics of punctate inner retinal toxoplasmosis (PIRT) as an atypical presentation of ocular toxoplasmosis (OT). METHODS: Retrospective review of OT cases with PIRT lesions and review of the literature. We describe five cases (6 eyes). RESULTS: PIRT lesions were seen adjacent to active/healed toxoplasma retinochoroiditis. The appearance of PIRT was creamy yellowish-white, inner retinal, punctate, and sub-centimetric lesions. The depth of these lesions on optical coherence tomography was till the outer plexiform layer. Co-existing punctate outer retinal toxoplasmosis (PORT) was found in three eyes and recurrent retinochoroiditis in three. The fate of PIRT was resolution with minimal retinal thinning or progression to a full-thickness retinochoroiditis. CONCLUSION: PIRT was noted in association with typical toxoplasma retinochoroiditis and PORT lesions, and had equal chances of resolution or progression to full-thickness lesions.