Coexistence of MRCS syndrome, extremely long axis and exfoliation syndrome: a case report and literature review.

BACKGROUND: The coexistence of MRCS (microcornea, retinal dystrophy, cataract, and posterior staphyloma) syndrome and extremely long axis is rare since microcornea frequently accompanies with diminution of entire anterior segment and occasionally the whole globe. In the case presented here, combination of these two elements were identified, together with XFS (exfoliation syndrome). CASE PRESENTATION: A 66-year-old Han Chinese woman presented for consultation due to impaired vision which accompanied throughout her entire life span and worsened during the last 2 years. Combination of MRCS syndrome and extremely long axial length was evidently diagnosed in both eyes, with XFS confirmed in her right eye, but mutation screening failed to identify disease-causing sequence variants in some specific genes reported previously, including BEST1 and ARL2. However, likely pathogenic mutations in FBN2 gene were identified. Bilateral cataract phacoemulsification without intraocular lens implantation was performed using scleral tunnel incision and under general anesthesia. At 3-month follow-up, ocular recovery of the patient was satisfactory. CONCLUSIONS: The case presented here exhibited rare coexistence of MRCS syndrome, extremely long axis and XFS. The complexity of her ocular abnormalities brought challenges to surgical management, in which multidisciplinary collaboration is often required. Furthermore, the genetic analysis in this case yielded a possible novel candidate gene for MRCS syndrome and provided evidence in support of genetic heterogeneity in this phenotype.

A Short-Time Real-World Study of Two Perfluoropropane Tamponade Methods in Pars Plana Vitrectomy for Retinal Detachment.

INTRODUCTION: This real-world study evaluated the efficacy, safety, and operative parameters of two perfluoropropane (C3F8) tamponade methods combined with pars plana vitrectomy (PPV) for retinal detachment (RD). METHODS: A retrospective study of 132 patients (132 eyes) with RD (pure C3F8 in 38 eyes, mixed C3F8 in 94 eyes). All eyes underwent PPV with C3F8 tamponade and were followed up for at least 3 months. Retinal reattachment rate, time of gas configuration and injection, C3F8 dosage, intraocular pressure (IOP), best corrected visual acuity, postoperative ocular inflammation, and patients' complaints were evaluated. RESULTS: The single-surgery retinal reattachment rates of the pure C3F8 group and mixed C3F8 group were 97.4% and 96.8%, respectively, with no significant difference (p = 1.00). The final retinal reattachment rates of the two groups were 100% and 97.2%, respectively, with no significant difference (p = 1.00). The gas configuration time, gas injection time, and C3F8 dosage were significantly less in the pure C3F8 group (all p < 0.001). Time, but not group, was the influencing factor of postoperative IOP changes in the two groups (p < 0.001, p = 0.547, respectively). Compared with the baseline, the IOP estimates of the pure C3F8 group showed a significant increase immediately after surgery (p < 0.001), and the mixed C3F8 group showed a significant increase immediately and 1-2 days after surgery (all p < 0.05). There was no statistical difference in ocular inflammation (p = 0.339) and patients' complaints of discomfort (p = 0.175) between the two groups. CONCLUSION: Both the two methods of C3F8 tamponade combined with PPV in RD patients showed good efficacy and safety, but the clinical operation of pure C3F8 tamponade was more convenient and eco-friendly.

Clinicopathological study of the polypoidal lesions of polypoidal choroidal vasculopathy.

PURPOSE: To investigate the pathogenic features of the polypoidal lesions from the specimens of polypoidal choroidal vasculopathy extracted from human subjects. METHODS: Seven specimens of polypoidal lesions extracted from five eyes of six patients (mean age, 60.16 ± 10.41 years) of polypoidal choroidal vasculopathy were examined. The polypoidal lesions were obtained by surgical excision. Thereafter, a histopathological analysis of the specimens was performed. RESULTS: The polypoidal lesions were oval nodules located underneath the retinal pigment epithelium. A pathological study of the lesions revealed that Bruch's membrane schisis was observed in all specimens and they were all located in the Bruch's membrane. The Bruch's membrane schisis and serosanguineous materials constituted the main structure of the lesions in five of the seven specimens, with small vessels being observed in two specimens. One specimen was composed of two polypoidal lesions of different characteristics, and one specimen had a neovessel membrane complex with several polypoidal lesions. Inflammatory cells and blood vessels were observed in the polypoidal lesion of the specimen with neovessel membrane complex. CONCLUSION: Polypoidal lesions of polypoidal choroidal vasculopathy are abnormalities of the Bruch's membrane. The lesions are characterized by the Bruch's membrane schisis, which is filled with serosanguineous materials. The lesions are progressive and may contain inflammatory cells and blood vessels.

TRAUMATIC PROLIFERATIVE VITREORETINOPATHY: Clinical and Histopathological Observations.

PURPOSE: To determine the phases of traumatic proliferative vitreoretinopathy after open globe injury by assessing cellular components, extracellular matrix constituents of proliferative vitreoretinopathy membranes, and intraretinal changes over time. METHODS: Twenty-one epiretinal and/or subretinal membrane specimens were obtained from 21 patients with open globe injuries. The patients were divided into Groups A (≤28 days), B (29-120 days), and C (>120 days) according to the interval between injury and vitrectomy. The staining intensity and percentage of positive cells in membranes were compared among the groups, and proliferative indices for Ki-67 and proliferating cell nuclear antigen were assessed. Intraretinal changes were evaluated through histology and immunohistochemistry. Fundus photography was performed during vitrectomy. RESULTS: The proliferating cell nuclear antigen proliferative index was significantly higher in Group B (P = 0.002) than in Group A, and lower in Group C (P < 0.001) than in Group B. α-smooth muscle actin expression increased from day 29 to 120 after injury. Meanwhile, intraretinal gliosis and fibrosis developed. CONCLUSION: Active proliferation and contraction in proliferative vitreoretinopathy membranes continue until 120 days after injury, and are accompanied by the initiation of intraretinal gliosis and fibrosis. These findings provide further insight into the optimal timing of vitrectomy after trauma.

A mutation in ADIPOR1 causes nonsyndromic autosomal dominant retinitis pigmentosa.

Retinitis pigmentosa (RP) is a clinically and genetically heterogeneous disorder characterized by night blindness, visual field constriction, and severely reduced visual acuity. Despite a number of genes being implicated in RP pathogenesis, the genetic etiology of the disease remains unknown in many patients. In this study, our aim was to identify the disease-causing mutation of a large Chinese family with autosomal dominant RP (adRP). Targeted exon capture sequencing was initially performed to screen mutations in known disease-causing genes, followed by exome sequencing. In doing so, a heterozygous mutation in ADIPOR1 (c.929A > G) that results in an amino acid substitution (p.Y310C) was identified to co-segregate with the disease phenotype in this family. Adipor1 is wildly expressed throughout the body, but appears to be enriched in the photoreceptor inner and outer segments. The p.Y310C mutation, predicted to affect the structure and function of the protein, was confirmed to affect protein folding and its subcellular localization in vitro. In addition, knockdown of adipor1 expression in a zebrafish model with morpholino (MO) preferentially reduced the number of rod photoreceptors, with no effect on the number of cones, a phenotype that is characteristic of RP. Furthermore, the knockdown phenotype was partially rescued by injecting wild-type, but not mutant, human ADIPOR1 mRNA. We conclude that ADIPOR1 is a novel adRP-causing gene and plays an important role in rod development and maintenance.

Development of medical treatment for eye injuries in the mainland of China over the past decade.

In the article, the development of medical treatment for eye injuries in the mainland of China was reviewed. According to the data provided in Eye Injury Vitrectomy Study (EIVS), 27% of 72 eyes with no light perception (NLP) gained recovery in term of antomy and visual function. Vitrectomy initiated at more than 4 weeks after open eye injury is an independent risk factor for developing PVR. Prognosis of anatomy and visual function of the injured eye with PVR is markedly worse than that without PVR. Serious injuries of ciliary body, choroid and retina are three key parts of the eye with NLP. The concept that the treatment of the eye injury gradually focus on the whole globe is embodied. The data from 13575 in patients with traumatic eyes in 14 hospitals revealed that the rate of immediate enucleation was remarkable reduced with comparison of 20 years ago.

Clinical features and prognosis of eyeball rupture: eye injury vitrectomy study.

BACKGROUND: The objective of the study was to delineate clinical characteristics, surgical interventions, anatomic and visual outcomes of ruptured eye balls after trauma, and establish the prognostic indicators, which can assist clinicians in making correct surgical decisions during globe exploration for ruptured eyes. DESIGN: The study design used was a multicentre prospective cohort study, including six university-affiliated tertiary hospitals. PARTICIPANTS: We selected 242 cases of ruptured globe from the Eye Injury Vitrectomy Study database, until 31 December 2012. METHODS: All selected cases underwent vitreoretinal surgery, enucleation or evisceration, and were followed up for at least 6 months. Age, visual acuity (VA) after injury, ocular trauma zone, time to surgery, corneal laceration, scleral wound, extrusion of iris or lens, ciliary body damage, intraocular haemorrhage, retinal detachment or defect, proliferative vitreoretinopathy (PVR) and choroidal damage were the predisposing factors evaluated by logistic regression models. MAIN OUTCOME MEASURES: We compared the pre-surgical indicators between cases of anatomically restored eyes with VA of 4/200 or better, or eyes with initial no light perception restored light perception or better, and cases of VA worse than 4/200, silicone oil-sustained eyes, phthisis or enucleation. RESULTS: Nearly 40% of cases with ruptured globe were anatomically restored through vitreoretinal surgery. The closed-funnel retinal detachment or extensive retinal loss (odds ratio [OR] = 3.38, P = 0.026), PVR-C (OR = 3.45, P = 0.008), and choroidal damage (OR = 4.20, P = 0.004) were correlated with poor outcomes. CONCLUSION: The closed-funnel retinal detachment or extensive retinal loss, PVR-C, and choroidal damage are the risk factors for unfavourable outcomes in globe ruptures.

Insights into the pattern of choroidal vascularity index changes in idiopathic macular hole.

This retrospective study aimed to investigate the changes in choroidal vascularity index (CVI) before and after surgery for idiopathic macular hole (MH). Enhanced depth imaging optical coherence tomography (EDI-OCT) images were analyzed at baseline and at 1-week, 1-month, and 3-month postoperative visits. A total of 97 patients (97 eyes) were included in the study. At baseline, overall CVI and macular CVI showed negative correlation with axial length (AL) and positive correlation with central corneal thickness (CCT). There were no significant differences in macular CVI or overall CVI between affected and healthy eyes, as well as in subgroup analysis of different stages of macular CVI. Following surgery, there was a significant decrease in CVI at 1 week postoperatively, followed by a gradual recovery to baseline levels over time. The observed changes in CVI may be attributed to factors such as air tamponade, pressure changes, and photoreceptor metabolism. This study provides insights into the pattern of CVI changes associated with MH surgery. The findings suggest that stage 4 MH is associated with decreased macular CVI in affected eyes. These results contribute to a better understanding of the effects of surgery on choroidal blood flow in MH patients.

Risk factors, anatomical, and visual outcomes of injured eyes with proliferative vitreoretinopathy: eye injury vitrectomy study.

PURPOSE: To investigate potential risk factors for development of proliferative vitreoretinopathy (PVR) post trauma and evaluate the effect of PVR on anatomical and visual outcomes in injured eyes. METHODS: Overall, 179 eyes with PVR and 221 eyes without PVR after injury were selected from the database of the Eye Injury Vitrectomy Study, a multicenter cohort study launched in 1997. Multivariate logistic regression was used to ascertain the independent risk factors for development of PVR and to evaluate the influence of PVR on anatomical and visual outcomes. RESULTS: An interval of injury and vitrectomy of more than 28 days (odds ratio, 139.25; confidence interval, 50.09-387.10), severe vitreous hemorrhage (odds ratio, 2.72; confidence interval, 1.13-6.52), and total retinal detachment (odds ratio, 12.67; confidence interval, 3.96-40.52) were important independent risk factors for PVR. One hundred and fifteen eyes (52.0%) and 49 eyes (27.4%) without and with PVR, respectively, were anatomically restored with ambulant visual acuity (≥4/200). Proliferative vitreoretinopathy, poor initial visual acuity, relative afferent pupillary defect, total retinal detachment, and retinal tear or retinal defect were unfavorable prognostic indicators. CONCLUSION: Proliferative vitreoretinopathy occurs frequently in injured eyes and is associated with poor outcomes. Its onset depends on interval of injury and vitrectomy, wound location, vitreous hemorrhage, and retinal detachment. Early vitrectomy (before 2 weeks) and aggressive therapy should be considered for specific high-risk cases.

Insights into the underlying choroid in different stages of idiopathic epiretinal membranes after Viteromacular surgery.

PURPOSE: The purpose of the study was to longitudinally investigate the correlation between choroidal morphologic and vascular parameters and postoperative visual outcome in different stages of idiopathic epiretinal membranes (iERMs). METHODS: A prospective, observational, institutional case series of 102 consecutive patients diagnosed with unilateral iERMs were recruited at Peking University Third Hospital and were followed up for 12 months after surgical treatment with vitrectomy. Participants were classified into four stages according to current staging scheme. All eligible subjects underwent standardized imaging evaluation of choroidal parameters including subfoveal choroidal thickness (SFCT), choroidal vascularity index (CVI), and choroidal capillary perfusion (CCP) at baseline and each follow-up by enhanced depth optical coherence tomography (EDI-OCT) and OCT angiography (OCTA). Longitudinal follow-up of choroidal parameters over 12 months was analysed, and their correlations with best-corrected visual acuity (BCVA) were also assessed for predictive prognostic value. RESULTS: CVI and CCP were significantly correlated with BCVA at each follow-up examination (all p < 0.05). However, SFCT exhibited no variation among different stages of iERMs at baseline (p = 0.981) or during follow-up (p = 0.520). The preoperative CVI correlated with 12-month postoperative BCVA (p < 0.001) and its predictive prognostic effect on BCVA was validated in multiple regression analysis (p = 0.006). CONCLUSION: CVI varied among different stages of iERM and was significantly correlated with visual outcomes after the surgery. CVI could serve as a predictive prognostic marker in iERMs, which further indicates the underlying choroid should be taken into consideration in clinical evaluation of iERMs.

Analysis of Clinical Characteristics of Patients with Recurrent Cytomegalovirus Retinitis after Hematopoietic Stem Cell Transplantation.

OBJECTIVE: To analyze and summarize the clinical and imaging characteristics of patients with cytomegalovirus retinitis (CMVR) relapse after hematopoietic stem cell transplantation (HSCT). METHODS: This retrospective case series study recruited patients with CMVR after HSCT. The study compared the patients with stable lesions and CMV-negative aqueous humor after treatment with those with relapse lesions and a CMV DNA load in aqueous humor which had increased again after treatment. The observation indexes were basic clinical information, best-corrected visual acuity, wide-angle fundus photography, optical coherence tomography (OCT), blood CD4+ T lymphocyte count, and aqueous humor CMV load of the patients. We summarized the data and statistically analyzed the differences between the relapse and non-relapse groups, as well as the correlations of the observed indicators. RESULTS: The study recruited 52 patients with CMVR (82 eyes) after HSCT, of whom 11 patients (15 eyes) had recurrence after treatment (21.2%). The recurrence interval was 6.4 ± 4.9 months. The final best-corrected visual acuity of recurrent patients was 0.3 ± 0.3. The number of CD4+ T lymphocytes in recurrence patients at the time of onset was 126.7 ± 80.2/mm3. The median CMV DNA load detected in aqueous humor at the time of recurrence was 8.63 × 103 copies/mL. There was a significant difference in the CD4+ T lymphocyte count between the recurrence and the non-recurrence groups at onset. The onset of visual acuity in recurrence patients was significantly correlated with final visual acuity and recurrence lesion area. The fundus of recurred CMVR showed increased marginal activity of the original stable lesion. Concurrently, yellow-white new lesions appeared around the stable, atrophic, and necrotic lesions. OCT showed new diffuse hyperreflexic lesions in the retinal neuroepithelial layer near the old lesions. Inflammatory punctate hyperreflexes were observed in the vitreous, with vitreous liquefaction and contraction. CONCLUSION: This study suggests that the clinical features, fundus manifestations, and imaging features of CMVR recurrence after HSCT are different from those at the initial onset. Patients should be closely followed up after their condition is stable to be alert for CMVR recurrence.

Dynamic human retinal pigment epithelium (RPE) and choroid architecture based on single-cell transcriptomic landscape analysis.

The retinal pigment epithelium (RPE) and choroid are located behind the human retina and have multiple functions in the human visual system. Knowledge of the RPE and choroid cells and their gene expression profiles are fundamental for understanding retinal disease mechanisms and therapeutic strategies. Here, we sequenced the RNA of about 0.3 million single cells from human RPE and choroids across two regions and seven ages, revealing regional and age differences within the human RPE and choroid. Cell-cell interactions highlight the broad connectivity networks between the RPE and different choroid cell types. Moreover, the transcription factors and their target genes change during aging. The coding of somatic variations increases during aging in the human RPE and choroid at the single-cell level. Moreover, we identified ELN as a candidate for improving RPE degeneration and choroidal structure during aging. The mapping of the molecular architecture of the human RPE and choroid improves our understanding of the human vision support system and offers potential insights into the intervention targets for retinal diseases.

Deep Sc-RNA sequencing decoding the molecular dynamic architecture of the human retina.

The human retina serves as a light detector and signals transmission tissue. Advanced insights into retinal disease mechanisms and therapeutic strategies require a deep understanding of healthy retina molecular events. Here, we sequenced the mRNA of over 0.6 million single cells from human retinas across six regions at nine different ages. Sixty cell sub-types have been identified from the human mature retinas with unique markers. We revealed regional and age differences of gene expression profiles within the human retina. Cell-cell interaction analysis indicated a rich synaptic connection within the retinal cells. Gene expression regulon analysis revealed the specific expression of transcription factors and their regulated genes in human retina cell types. Some of the gene's expression, such as DKK3, are elevated in aged retinas. A further functional investigation suggested that over expression of DKK3 could impact mitochondrial stability. Overall, decoding the molecular dynamic architecture of the human retina improves our understanding of the vision system.

Choroidal morphologic and vascular features in patients with unilateral idiopathic epiretinal membranes: An optical coherence tomography analysis integrated with assessment of retinal layers.

Introduction: Integrated analysis of retinal and choroidal morphologic and vascular features is urgently needed to examine whether and how these two elements interact with each other, thus contributing to visual impairment in patients with idiopathic epiretinal membranes (iERMs). Methods: An observational retrospective study consisting of 181 patients diagnosed with unilateral iERM between August 2019 and July 2022 was carried out at Peking University Third Hospital. All patients underwent a standardized set of ophthalmologic examinations, including EDI-OCT and OCTA scanning, and were subsequently categorized into four stages according to current classification schemes based on their OCT findings. Altogether, 15 qualitative and quantitative parameters of both the retina (full-layer, inner and outer layers) and choroid were identified. Results: The results revealed variations in the choroidal vascularity index (CVI) among different stages of iERMs (p < 0.001) for the first time. Distributions of retinal parameters across four stages of iERMs were validated. Correlation analysis between choroidal and retinal parameters showed that the CVI was associated with both inner and outer retinal morphologic biomarkers. Functional damage to retinal integrity was determined to be a strong contributor to visual acuity reduction in iERMs. Discussion: This study complemented our present understanding of posterior segment structural and vascular alterations in iERMs.

Mutant prominin 1 found in patients with macular degeneration disrupts photoreceptor disk morphogenesis in mice.

Familial macular degeneration is a clinically and genetically heterogeneous group of disorders characterized by progressive central vision loss. Here we show that an R373C missense mutation in the prominin 1 gene (PROM1) causes 3 forms of autosomal-dominant macular degeneration. In transgenic mice expressing R373C mutant human PROM1, both mutant and endogenous PROM1 were found throughout the layers of the photoreceptors, rather than at the base of the photoreceptor outer segments, where PROM1 is normally localized. Moreover, the outer segment disk membranes were greatly overgrown and misoriented, indicating defective disk morphogenesis. Immunoprecipitation studies showed that PROM1 interacted with protocadherin 21 (PCDH21), a photoreceptor-specific cadherin, and with actin filaments, both of which play critical roles in disk membrane morphogenesis. Collectively, our results identify what we believe to be a novel complex involved in photoreceptor disk morphogenesis and indicate a possible role for PROM1 and PCDH21 in macular degeneration.

Novel Suturing Methods for the Management of Traumatic Choroidal Avulsion in Globe Injuries.

PURPOSE: To explore the long-term efficacy of novel choroidal suturing methods including trans-scleral mattress suturing (TSS) and intraocular suturing (IOS) in the treatment of choroidal avulsion. DESIGN: Prospective cohort, hospital-based study. METHODS: A total of 24 patients who were diagnosed with choroidal avulsion were enrolled in this study. The demographic characteristics, baseline information of trauma, best-corrected visual acuity (BCVA), and intraocular pressure (IOP) were collected before surgery, and the anatomic abnormities of the globe were recorded before or during surgery. All patients were diagnosed with choroidal avulsion and underwent choroid suturing treatment during vitrectomy, postoperative functional variables including BCVA and IOP, anatomic variables including retinal and choroidal reattachment rate, and silicone oil migration rate, which were recorded at the regular follow-ups at least 1 year after surgery. RESULTS: All patients with open globe injury involved zone III, 70.8% of the patients presented with two quadrants of the avulsed choroid, and 29.2% with one quadrant involved; moreover, all patients had complications with retinal detachment (RD), of which 58.3% of patients had closed funnel retinal detachment. TSS was applied in nineteen patients and IOS in five patients. Postoperatively, a significant improvement on LogMAR BCVA was observed at each follow-up from 3.57 ± 0.69 before surgery to 2.82 ± 0.98 at the last follow-up (p < 0.05), and the proportion of no light perception (NLP) was also reduced from 69.6 to 37.5%. IOP was markedly elevated from 6.4 ± 4.1 mmHg preoperatively to 11.3 ± 4.3 mmHg at the last follow-up (p < 0.05). Choroidal reattachment was achieved in 91.7% of patients; two patients were observed with silicone oil migration at 3 months after surgery and underwent drainage of suprachoroidal silicone oil and sclera buckling. Meanwhile, retinal attachment was observed in 95.8% of patients, only one patient developed partial RD due to postoperative proliferative vitreoretinopathy, and secondary vitrectomy was performed; all patients were observed with complete retinal and choroidal attachment at the last follow-up. Eventually, four patients were silicone oil-free, and 20 patients were silicone oil-dependent. CONCLUSIONS: Choroidal suturing proved to be an effective method to fix the avulsed choroid, which greatly improved the BCVA and maintained the IOP, and efficiently increased the choroidal and retinal reattachment rate and preservation of the eyeball.

Traumatic choroidal injuries - classification, incidence, diagnosis and prognosis twenty-year results of Eye Injury Vitrectomy Study.

PURPOSE: To characterize the classification, incidence, diagnosis and prognosis of traumatic choroidal injuries. METHODS: Subjects were selected from the database of the Eye Injury Vitrectomy Study (EIVS) and were examined for occurrences of different categories of choroidal injuries. Standard photographs were collected. Anatomical and visual outcomes were assessed in patients with greater than 1 year of follow-up. Eyes that had no light perception (NLP) and/or phthisis bulbi were defined as having had unfavourable outcomes. The percentage of eyes with an unfavourable outcome was analysed for different types of choroidal injuries. RESULTS: Nine categories of choroidal injuries with distinctive features were identified in the EIVS database. The incidence and the percentage of eyes with an unfavourable outcome in each injury category were as follows: suprachoroidal effusion, 21.2% (7.2%); suprachoroidal haemorrhage, 12.8% (11.2%); massive suprachoroidal haemorrhage, 4.0% (64.9%); choroidal avulsion, 4.2% (92.2%); traumatic chorioretinal rupture, 1.8% (13.3%); choroidal rupture, 4.8% (6.8%); choroidal loss, 1.6% (79.3%); choroidal hole, 1.1% (5.3%); and choroidal damage at the wound site, 39.2% (17.7%). CONCLUSIONS: Ocular trauma can cause a variety of choroidal injuries that have distinctive features, some of which are associated with a high frequency of unfavourable prognoses.

Ellipsoid Zone and External Limiting Membrane-Related Parameters on Spectral Domain-Optical Coherence Tomography and Their Relationships With Visual Prognosis After Successful Macular Hole Surgery.

Purpose: To compare structural diameters of the ellipsoid zone (EZ) and external limiting membrane (ELM) bands on spectral domain-optical coherence tomography (SD-OCT) images between vision-improved (group A) and vision-unimproved (group B) patients, and investigate the connection between these parameters and visual prognosis. Materials and Methods: Forty-five eyes of 43 patients with idiopathic full-thickness macular hole closed after vitrectomy were retrospectively reviewed. Best-corrected visual acuity (BCVA) and SD-OCT were conducted preoperatively and at 1 week, 1 month and 6 months postoperatively. Structural and functional parameters were then measured using ImageJ software. Results: Among structural and functional parameters, the relative reflectivity of EZ and the ratio of continuous ELM and EZ in group A were significantly higher than in group B from the 1-month postoperative visit. At the 6-month follow-up, the diameter of EZ disruption in group A was significantly smaller than in group B, and the relative reflectivity of ELM/EZ was significantly higher than group B. At 6-months, BCVA was statistically significantly correlated with baseline BCVA, basal diameter (BD), macular hole index (MHI), and diameter of ELM/EZ disruption. Change in BCVA from baseline was found to be significantly correlated with axial length and diameter hole index (DHI). Conclusions: Postoperative BCVA outcome was significantly correlated with integrity, thickness and reflectivity of the EZ band. Patients with smaller diameter of EZ disruption and higher reflectivity of EZ band tended to have better visual outcomes. Given that the EZ band reflects the recovery of mitochondria in photoreceptors, it is a promising parameter for their functional evaluation.

Choroidal Morphologic and Vascular Features in Patients With Myopic Choroidal Neovascularization and Different Levels of Myopia Based on Image Binarization of Optical Coherence Tomography.

Purpose: To characterize the choroidal morphologic and vascular features in different levels of myopes and patients with myopic choroidal neovascularization (mCNV). Methods: A total of 148 subjects were enrolled in this cross-sectional study, including 78 low-to-moderate myopes (LMM), 53 high myopes (HM), and 17 high myopic patients with mCNV. Ocular biometrics were measured using an optical low-coherence reflectometry device. Retinal and choroidal imaging was performed using enhanced depth imaging (EDI) spectral domain optical coherence tomography (OCT). Retinal parameters including retinal thickness and retinal volume were obtained from a built-in software. Binarization technique was adopted to investigate choroidal parameters including choroidal thickness (CT), vascular area, stromal area, and choroidal vascularity index (CVI). Choroidal parameters were measured at five locations to cover as much area of choroid as possible, and their patterns of distribution were further analyzed. Results: Patients with mCNV had an atrophic retina of comparable thickness to HM (273.65 ± 17.28 vs. 276.49 ± 13.29 µm, p = 0.47), but the choroid was thinner than that of HM (153.94 ± 15.12 vs. 236.09 ± 38.51 µm, p < 0.001). Subfoveal CVI was greatest in the mCNV eyes (0.651 ± 0.009), followed by HM (0.645 ± 0.012) and LMM eyes (0.636 ± 0.012). Similar to CT, CVI was also found significantly different among these three groups at all five locations (p for trend < 0.001 for all locations). Axial length (AL) was negatively correlated with retinal volume (r = -0.236, p = 0.009), which is the only significant finding in associations between ocular factors and retinal parameters. Strong, negative correlations were identified between AL and subfoveal choroidal thickness (SFCT, r = -0.820, p < 0.001). However, AL was positively correlated with subfoveal CVI (r = 0.668, p < 0.001). CVI was greater in myopic eyes with thinner choroid (r = -0.578, p < 0.001). BCVA exhibited no significant association with CVI (r = 0.139, p = 0.092), but was negatively correlated with SFCT (r = -0.386, p < 0.001) and positively correlated with AL (r = 0.351, p < 0.001). Conclusion: Choroid in patients with mCNV was thinner yet more vascularized than that in HM and LMM subjects. CVI increased with a longer AL which was associated with a smaller SFCT, choroidal vascular area (VA), and total choroidal area (TCA). Better BCVA was achieved in subjects with thicker SFCT and shorter AL.

Essential and synergistic roles of RP1 and RP1L1 in rod photoreceptor axoneme and retinitis pigmentosa.

Retinitis pigmentosa 1 (RP1) is a common inherited retinopathy with variable onset and severity. The RP1 gene encodes a photoreceptor-specific, microtubule-associated ciliary protein containing the doublecortin (DCX) domain. Here we show that another photoreceptor-specific Rp1-like protein (Rp1L1) in mice is also localized to the axoneme of outer segments (OSs) and connecting cilia in rod photoreceptors, overlapping with Rp1. Rp1L1-/- mice display scattered OS disorganization, reduced electroretinogram amplitudes, and progressive photoreceptor degeneration, less severe and slower than in Rp1-/- mice. In single rods of Rp1L1-/-, photosensitivity is reduced, similar to that of Rp1-/-. While individual heterozygotes are normal, double heterozygotes of Rp1 and Rp1L1 exhibit abnormal OS morphology and reduced single rod photosensitivity and dark currents. The electroretinogram amplitudes of double heterozygotes are more reduced than those of individual heterozygotes combined. In support, Rp1L1 interacts with Rp1 in transfected cells and in retina pull-down experiments. Interestingly, phototransduction kinetics are normal in single rods and whole retinas of individual or double Rp1 and Rp1L1 mutant mice. Together, Rp1 and Rp1L1 play essential and synergistic roles in affecting photosensitivity and OS morphogenesis of rod photoreceptors. Our findings suggest that mutations in RP1L1 could underlie retinopathy or modify RP1 disease expression in humans.