To evaluate the surgical technique using autologous retinal graft (ARG) and autologous blood clot (ABC) for the management of refractory macular holes (MHs). This study was a retrospective, consecutive, interventional case series. Six eyes of 6 patients who underwent vitrectomy combined with ARG and ABC for the treatment of refractory MH were reviewed. Visual and anatomic outcomes were evaluated. The mean age was 59.0 ± 9.9 years. All cases had multiple vitreoretinal procedures including vitrectomy and gas fluid exchange before patient presentation. The average numbers of vitrectomies were 2.3 ± 0.5, and those of gas fluid exchange were 3 ± 1.7. Closure of the macular hole was achieved in four (66.7%) cases at last follow-up. The mean follow-up time was 25.2 ± 15.6 months. The averaged BCVA before and after 12 months of the surgery improved from 20/591 to 20/244. This surgical technique using ARG and ABC provide an option for the treatment of refractory MHs.

Retinopathy of prematurity (ROP), a vasoproliferative vitreoretinal disorder, is the leading cause of childhood blindness worldwide. Although angiogenic pathways have been the main focus, cytokine-mediated inflammation is also involved in ROP etiology. Herein, we illustrate the characteristics and actions of all cytokines involved in ROP pathogenesis. The two-phase (vaso-obliteration followed by vasoproliferation) theory outlines the evaluation of cytokines in a time-dependent manner. Levels of cytokines may even differ between the blood and the vitreous. Data from animal models of oxygen-induced retinopathy are also valuable. Although conventional cryotherapy and laser photocoagulation are well established and anti-vascular endothelial growth factor agents are available, less destructive novel therapeutics that can precisely target the signaling pathways are required. Linking the cytokines involved in ROP to other maternal and neonatal diseases and conditions provides insights into the management of ROP. Suppressing disordered retinal angiogenesis via the modulation of hypoxia-inducible factor, supplementation of insulin-like growth factor (IGF)-1/IGF-binding protein 3 complex, erythropoietin, and its derivatives, polyunsaturated fatty acids, and inhibition of secretogranin III have attracted the attention of researchers. Recently, gut microbiota modulation, non-coding RNAs, and gene therapies have shown promise in regulating ROP. These emerging therapeutics can be used to treat preterm infants with ROP.

Congenital stationary night blindness (CSNB) is an inherited retinal disease (IRD) that causes night blindness in childhood with heterogeneous genetic, electrophysical, and clinical characteristics. The development of sequencing technologies and gene therapy have increased the ease and urgency of diagnosing IRDs. This study describes seven Taiwanese patients from six unrelated families examined at a tertiary referral center, diagnosed with CSNB, and confirmed by genetic testing. Complete ophthalmic exams included best corrected visual acuity, retinal imaging, and an electroretinogram. The effects of identified novel variants were predicted using clinical details, protein prediction tools, and conservation scores. One patient had an autosomal dominant CSNB with a RHO variant; five patients had complete CSNB with variants in GRM6, TRPM1, and NYX; and one patient had incomplete CSNB with variants in CACNA1F. The patients had Riggs and Schubert–Bornschein types of CSNB with autosomal dominant, autosomal recessive, and X-linked inheritance patterns. This is the first report of CSNB patients in Taiwan with confirmed genetic testing, providing novel perspectives on molecular etiology and genotype–phenotype correlation of CSNB. Particularly, variants in TRPM1, NYX, and CACNA1F in our patient cohort have not previously been described, although their clinical significance needs further study. Additional study is needed for the genotype–phenotype correlation of different mutations causing CSNB. In addition to genetic etiology, the future of gene therapy for CSNB patients is reviewed and discussed.

To investigate vascular abnormalities, including persistent avascular retina (PAR), in a large cohort of patients with regressed or treated retinopathy of prematurity (ROP) through long-term follow-up until school age. Retrospective large cohort study. We included pediatric patients (< 18 years old) with a history of nontreated or treated ROP (treated with either photocoagulation or intravitreal injection [IVI]) and regularly followed up until 2020. Upon enrollment, we categorized patients into 4 groups: prematurity, regressed ROP, and IVI and laser treatment ROP groups. All patients had undergone visual acuity examinations, OCT, and ultrawide-field fluorescein angiography. Percentage of eyes with PAR (greater than or equal to the area of 2 disc diameters from the ora serrata to vascular termini) and with vascular abnormalities in the peripheral and posterior retina. In total, we included 187 eyes of 95 patients. The prevalence of PAR was 0%, 33.33%, and 31.65% in eyes in the prematurity, regressed ROP, and IVI treatment groups, respectively (P < 0.0001). There was no significant difference in the percentage of PAR eyes when comparing regressed ROP group (33.33%) with the IVI treatment group (31.65%). At least 1 type of vascular abnormality was noted until school age in all (100%) treated ROP eyes. Although multivariate analysis found a significant association between IVI treatment and PAR (odds ratio: 10.28, 95% confidence interval: 3.29–32.14) until the school age of 6 to 8 years old, there were no stage 3 eyes in the spontaneously regressed group, suggesting that stage 3 ROP in the IVI group could also drive the association. Approximately one-third of ROP eyes with spontaneous regression or IVI treatment still exhibit PAR when the child reaches school age. Several distinct vascular anomalies at the vascular–avascular juncture and within the vascularized retina can persist in these children. The clinical significance of these anomalies and the decision whether to treat them warrant further investigation to optimize their outcomes. The authors have no proprietary or commercial interest in any materials discussed in this article.

Purpose: To compare the manifestations of photoreceptors (PRs) in three hereditary optic neuropathies affected by primary mitochondrial dysfunction and discuss whether the retinal ganglion cells (RGCs) or the PRs are preferentially affected. Methods: A retrospective analysis of patients with genetically confirmed diagnoses of optic neuropathies associated with mitochondrial dysfunction was performed. This cohort included Leber's hereditary optic neuropathy (LHON), autosomal dominant optic atrophy type 1 (OPA1), and optic atrophy type 13 (OPA13). Patient chart evaluations included clinical characteristics, best-corrected visual acuity (BCVA), fundus photography, spectral-domain optical coherence tomography (SD-OCT), electroretinogram (ERG), and visual evoked potential data. Results: This analysis included seven patients with LHON, six with OPA1, and one with OPA13 from a tertiary medical center. Thirteen of the 14 individuals were male. The average BCVA at diagnosis was 20/285 and 20/500 in the right and left eyes, respectively. Five of the seven patients with LHON, and three of the six patients with OPA1 also showed a mild amplitude reduction or delayed latency on light-adapted ERG and 30-Hz flicker responses; however, SD-OCT imaging did not show correlated PR abnormalities. Notably, a 7-year follow-up of a patient with OPA13 revealed degeneration of RGCs prior to the degeneration of PRs. Follow-up data also demonstrated continuous loss of cone outer segment tips on SD-OCT imaging. Conclusions: RGCs are, in general, affected by mitochondrial dysfunction, whereas variable PR dysfunction exists in patients with LHON and OPA1, especially with respect to the cone responses. Involvement of PRs is particularly evident in OPA13 after RGC degenerations.