Stickler syndrome is a genetic disorder characterized by collagen abnormalities leading to various ocular manifestations, such as retinal detachment. We present two cases of siblings clinically diagnosed with Stickler syndrome who exhibited retinal detachment. Case 1, a seven-year-old girl, and case 2, her 14-year-old brother, both displayed severe myopia and other clinical signs consistent with Stickler syndrome. Despite their ages, neither case showed evidence of posterior precortical vitreous pocket (PPVP) on imaging or during surgical intervention. These findings suggest a potential relationship between collagen abnormalities and PPVP dysplasia in Stickler syndrome.

UNASSIGNED: High-resolution Ultrasound (USG) provides good anatomical details of the ocular posterior segment and depicts the various pathological conditions affecting the ocular posterior segment, which helps ophthalmologists for choosing the best treatment options. This study aims to evaluate the utility of High-resolution Ultrasonography in the Evaluation of Posterior Segment Ocular lesions by using Sensitivity and Specificity.
UNASSIGNED: A hospital-based retrospective study enrolled 81 patients in a tertiary care hospital. Clinical and ophthalmological examinations were performed followed by USG of the orbits. B-mode USG was done with a 7.5-13 MHz linear probe. The final diagnosis was made by correlating the USG findings with clinical and ophthalmological examinations.
UNASSIGNED: Sensitivity, specificity, the positive predictive value, the negative predictive value, and the accuracy of B-scan USG were compared with the ophthalmological findings by using the Chi-square test.
UNASSIGNED: Of 81 patients (n=48 males and n=33 females) with a mean age of 38.98 ± 16.48 [SD] years, posterior segment ocular lesions in association with cataracts were found in 27 (33.3%) patients, whereas 14 (51.9%) patients had posterior vitreous detachment (PVD), 10 (37%) patients had retinal detachment (RD), and 1 (3.7%) patient had choroidal detachment (CD). Posterior segment ocular pathologies were found in 17 (21%) patients with blunt ocular injuries, whereas 8 (47.1%) patients had PVD, 4 (23.5%) patients had RD and 4 (23.5%) patients had CD. The ocular USG had a sensitivity of 87.32%, specificity of 80%, and accuracy of 86.42% with a statistically significant difference between the USG findings and the Ophthalmology diagnosis of the posterior segment ocular abnormalities of a p-value of 0.0005.
UNASSIGNED: High-resolution ultrasound is one of the best and an easily available imaging modality for the evaluation of posterior segment ocular pathologies, especially in the presence of opaque ocular media.
UNASSIGNED: Aukštos raiškos ultragarsas (trumpinama USG) suteikia kokybišką ir detalią anatominę informaciją apie užpakalinį akies segmentą bei parodo įvairias patologines būkles, paveikiančias užpakalinį akies segmentą. Tai teikia galimybę oftalmologams pasirinkti geriausią gydymo variantą. Šiuo tyrimu siekiama įvertinti, kiek naudingas aukštos raiškos ultragarsas, vertinant užpakalinio akies segmento pažeidimus, ir kaip tai atspindi jautrumas ir specifiškumas.
UNASSIGNED: Ligoninėje (tretinio lygmens medicinos įstaigoje) atliktas perspektyvusis tyrimas, kuriame dalyvavo 81 pacientas. Atlikti klinikiniai ir oftalmologiniai akiᶙ tyrimai, po kuriᶙ buvo atliekamas akiduobės USG. B režimo USG buvo atliktas su 7,5–13 MHz linijiniu zondu. Galutinė diagnozė pateikta susiejant ultragarso duomenis su klinikiniais ir oftalmologiniais tyrimais.
UNASSIGNED: Jautrumas, specifiškumas, teigiama nuspėjamoji vertė, neigiama nuspėjamoji vertė ir B režimo USG buvo lyginami su oftalmologiniᶙ tyrimᶙ išvadomis pasitelkiant chi kvadrato testą.
UNASSIGNED: Iš 81 paciento (n = 48 vyrai ir n = 33 moterys), kuriᶙ vidutinis amžius 38,98 ± 16,48 [SD] metai, užpakalinio akies segmento pažeidimai, susiję su katarakta, buvo nustatyti 27 (33,3 %) pacientams, o 14 (51,9 %) pacientᶙ nustatyta užpakalinė stiklakūnio atšoka (trumpinama PVD), 10 (37 %) pacientᶙ buvo tinklainės atšoka (trumpinama RD), o 1 (3,7 %) pacientui nustatyta choroidinė atšoka (trumpinama CD). Užpakalinio akiᶙ segmento patologija nustatyta 17 (21 %) pacientᶙ, kurie buvo patyrę akiᶙ pažeidimus neaštriu daiktu, o 8 pacientams (47,1 %) nustatytas PVD, 4 (23,5 %) pacientams RD bei 4 pacientams (23,5 %) buvo CD. Akiᶙ USG jautrumas 87,32 %, specifiškumas siekė 80 %, o tikslumas buvo 86,42 %. Nustatytas statistiškai svarbus skirtumas tarp USG rezultatᶙ ir užpakalinio akies segmento anomalijᶙ oftalmologinės diagnozės; nustatyta p vertė 0,0005.
UNASSIGNED: Aukštos raiškos ultragarsas yra vienas iš geriausiᶙ bei lengvai prieinamas raiškaus vaizdavimo modalumas vertinant užpakalinio akies segmento patologijas, ypač kai akyse yra kokiᶙ nors neskaidriᶙ elementᶙ.

Circumscribed choroidal hemangiomas are rare and benign tumors but often have a progressive course and are complicated by retinal detachment and glaucoma. The effectiveness of external radiation for large tumors that are difficult to treat with photodynamic therapy was recently reported; however, few studies have conducted long-term follow-ups. We encountered a case of localized choroidal hemangioma that was treated with proton beam therapy and followed up for 15 years. A 37-year-old man was diagnosed with a 10 × 4 mm circumscribed choroidal hemangioma involving the macular area with retinal detachment. Proton beam therapy was performed at 26.4 Gy relative biological effectiveness (RBE) in 8 fractions. The choroidal hemangioma gradually shrank over three years, and the retinal detachment also improved. A cataract developed on the affected side 11 years after irradiation, and eye coordination issues developed 15 years after irradiation. Glaucoma was not observed during the follow-up period; however, visual acuity did not recover, and the patient developed light perception. Although vision was not preserved, proton beam therapy effectively shrank the tumor and maintained quality of life.

Background The emulsification of silicone oil is a significant concern for those with rhegmatogenous retinal detachment (RRD) following surgery. The aim of the study was to assess the frequency of emulsification in the patients who underwent primary vitrectomy and were administered 5000 cs silicone oil. Methodology The Layton Rahmatullah Benevolent Trust in Lahore conducted an ophthalmology study from January 2022 to March 2023. The patients who had primary vitrectomy for RRD with silicone oil tamponade were included regardless of age or gender. Those on anti-inflammatory or steroid medications prior to surgery were excluded. Retinal attachment was examined 8-12 weeks post operation to assess silicone oil removal eligibility. Emulsification occurrence was reported. Data on emulsification time, visual acuity (pre- and post-removal), mean intraocular pressure (IOP), and clinical outcomes were collected and analyzed using the Statistical Package for Social Sciences (SPSS) software (IBM SPSS Statistics, Armonk, NY). The results were graphically presented with mean, standard deviations, frequencies, and proportions. Results A total of 158 patients underwent silicone oil removal after undergoing primary vitrectomy for RRD with silicone oil. The mean age of the patients was 45.90 ± 17.8 years. The mean preoperative intraocular pressure (IOP) among the patients was 16.28 ± 2.97 mmHg. Post removal of silicone oil, the IOP was reduced to 12.66 ± 3.02 mmHg. In 11 out of 158 cases (6.9%) of RRD, emulsification had occurred with silicone oil 5000 cs. We found that out of 11 cases of emulsification, eight (72.73%) were 40 years or older in age. Seven (63.64%) patients had tamponade duration of 10 weeks or longer. However, the difference was not statistically significant. Conclusion In conclusion, our study found that the incidence of emulsification of 5000 cs silicone oil in the patients who underwent primary vitrectomy for the treatment of RRD was 6.9%. We observed that emulsification was more frequent in patients aged 40 years or older and those with a tamponade duration of 10 weeks or longer, although the difference was not statistically significant. Further investigation with bigger sample sizes and extended follow-up periods is required to verify our findings and explore potential factors that could lead to emulsification in this group of patients.

OBJECTIVE: To investigate changes in vision-related quality of life in patients treated with pars plana vitrectomy (PPV) for rhegmatogenous retinal detachment (RRD) and compare groups according to the type of gas tamponade used.
METHODS: Participants in this study were 48 patients with RRD who were treated with PPV and gas tamponade (sulfur hexafluoride (SF6) or perfluoropropane (C3F8)) without internal limiting membrane peeling. All participants underwent slit-lamp examination, fundoscopy, axial-length measurement, and completed the Vision Function Questionnaire-25 (VFQ-25) at month six postoperatively. We compared VFQ-25 composite and subscale scores in the SF6 and C3F8 groups and investigated any correlations between age, best corrected visual acuity (BCVA), axial length, and VFQ-25 scores.
RESULTS: The demographic and clinical characteristics of the two groups (axial length, macular status, retinal detachment extent, duration of symptoms, and lens status) were comparable between the two groups. We found a statistically significant decrease in general vision (GV), ocular pain (OP), and driving (D) scores in the C3F8 group compared to the SF6 group. The VFQ-25 composite score was comparable in the two groups. Similarly, all other subscales of the VFQ-25 did not differ significantly between the two groups. Age and BCVA did not significantly correlate with VFQ-25 composite and subscale scores.
CONCLUSIONS: Specific VFQ-25 subscales were decreased in patients with RRD treated with C3F8 as a gas tamponade compared to SF6. This finding warrants further research in the tamponade agents used in PPV surgeries.

Retinal detachment (RD) is one of the most common, sight-threatening ocular conditions requiring emergency intervention. Posterior vitreous detachment (PVD) occurs in the majority of an aging population whereby the vitreous body separates from the retina. It is well established that PVD is the common precursor to the most common forms of RD; however, it remains unknown why in most individuals PVD will cause no/few complications (physiological PVD) but in a small percentage will cause retinal tears and detachment (pathological PVD). Despite over 100 years of scientific research, the anatomical definitions of PVD and its pathogenesis remain controversial. Recent research has identified a novel cell population (laminocyte), present at significantly higher numbers in pathological PVD when compared to physiological PVD. We review and summarise the seven distinct clinical sub-groups of retinal breaks and focus on the role of the laminocyte in those secondary to PVD and the transcriptomic profile of this unique cell. Provisional whole transcriptome analysis using bulk RNA-Seq shows marked differentially expressed genes when comparing physiological PVD with PVD associated with RD. The limitations of bulk RNA-Seq are considered and the potential to address these using spatial transcriptomics are discussed. Understanding the pathogenesis of PVD-related retinal tears will provide a baseline for the development of novel therapeutic targets and prophylactic treatments.

Aims and Rationale: The inner retina is supplied by three intraretinal capillary plexi whereas the outer retina is supplied by the choroidal circulation: NDP is essential for normal intraretinal vascularisation. Pathogenic variants in NDP (Xp11.3) may result in either a severe retinal phenotype associated with hearing loss (Norrie Disease) or a moderate retinal phenotype (Familial Exudative Vitreoretinopathy, FEVR). However, little is known about whether the nature or location of the NDP variant is predictive of severity. In this systematic review we summarise all reported NDP variants and draw conclusions about whether the nature of the NDP variant is predictive of the severity of the resulting ocular pathology and associated hearing loss and intellectual disability. Findings: 201 different variants in the NDP gene have been reported as disease-causing. The pathological phenotype that may result from a disease-causing NDP variant is quite diverse but generally comprises a consistent cluster of features (retinal hypovascularisation, exudation, persistent foetal vasculature, tractional/exudative retinal detachment, intellectual disability and hearing loss) that vary predictably with severity. Previous reviews have found no clear pattern in the nature of NDP mutations that cause either FEVR or Norrie disease, with the exception that mutations affecting cysteine residues have been associated with Norrie Disease and that visual loss amongst patients with Norrie disease tends to be more severe if the NDP mutation results in an early termination of translation as opposed to a missense related amino acid change. A key limitation of previous reviews has been variability in the case definition of Norrie disease and FEVR amongst authors. We thus reclassified patients into two groups based only on the severity of their retinal disease. Of the reported pathogenic variants that have been described in more than one patient, we found that any given variant caused an equivalent severity of retinopathy each time it was reported with very few exceptions. We therefore conclude that specific NDP mutations generally result in a consistent retinal phenotype each time they arise. Reports by different authors of the same variant causing either FEVR or Norrie disease conflict primarily due to variability in the authors\' respective case definitions rather than true differences in disease severity.

The authors describe a case of spontaneous globe rupture during instillation of perfluoro-n-octane (PFO) during retinal surgery. A 71-year-old male with a macular-involving rhegmatogenous retinal detachment underwent pars plana vitrectomy. During instillation of PFO manually on a single-bore cannula by the assisting resident, spontaneous globe rupture occurred superotemporally in an area with no visible underlying structural abnormalities. Factors that led to this complication include the use of single-bore cannula, error in judgment of resistance during PFO injection, and inexperience. This is the first report of this complication without an identifiable structural abnormality predisposing patient to perforation.

BACKGROUND: It is well understood that epithelial mesenchymal transformation occurs when retinal pigment epithelial cells, sourced from either a cell line or cadaver eye, are cultured in the presence of cadaver-derived vitreous. We sought to study the changes in retinal pigment epithelial cells when cell line-derived retinal pigment epithelial cells are cultured in the presence of pathological vitreous.
METHODS: Prospective study.
METHODS: 42 patients with rhegmatogenous retinal detachments.
METHODS: D407 retinal pigment epithelial cells were cultured in the presence of cadaver-derived vitreous or vitreous/subretinal fluid derived from patients undergoing retinal reattachment surgeries. Besides the changes in phenotypic characteristics, the viability, proliferation, migration, mesenchymal marker expression and changes in the extracellular matrix components were also evaluated.
METHODS: Fibrotic phenotype in cell culture.
RESULTS: Our study clearly demonstrates that cell line-derived retinal pigment epithelial cells (unlike donor-derived retinal pigment epithelial cells) cultured in the presence of patient-derived vitreous/subretinal fluid, exhibit characteristic features of proliferative vitreoretinopathy.
CONCLUSIONS: We propose that it is the synergistic effect of the combined use of (i) pathological vitreous, rather than cadaver-derived vitreous (since rhegmatogenous retinal detachment-derived pathological vitreous and subretinal fluid contain exaggerated amounts of growth factors, which could predispose to proliferative vitreoretinopathy development) and (ii) cells from an immortal cell culture (cell line), rather than from primary cell cultures (since cells subjected to continuous serial passaging acquire some mesenchymal characteristics), which together result in not only a unique phenotype, but also prime these cells towards display of features associated with proliferative vitreoretinopathy.