Dominant optic atrophy (DOA) is an inherited optic neuropathy and more than 75% of DOA patients harbor pathogenic mutations in OPA1. We reported a 39-year-old female harboring c.2119G>T mutation of OPA1 and manifested progressive visual impairment after hydroxychloroquine (HCQ) therapy. The patient’s visual impairment remained stable for 10 years until she began to take HCQ 13 months ago. She complained about progressively decreased vision in both eyes. Bilateral pale temporal optic disc was similar with that of 11 years ago. Optical coherence tomography showed bilateral moderate retinal nerve fiber layer thinning other than the nasal quadrant and general thinning of the inner retina in the macular. Microcystic macular edema was noted in nasal macular in both eyes. Visual field testing showed paracentral scotoma and microperimetry showed decrease sensitivity in the macular in both eyes. After the patient stopped taking HCQ, her functional tests including visual acuity, field testing and microperimetry testing was stable compared with those of 2 years ago. However, progressive inner macular and RNFL thinning was shown by OCT. OPA1 c.2119 G>T found in this patient was a mutation that had been rarely reported in previous studies. The patient has been followed up for over 10 years and her visual acuity stayed stable for decades long until she took HCQ for 13 months. Her vision decline terminated after she stopped taking HCQ. Although HCQ toxicity is highly related to the duration and daily dose, HCQ may aggravate visual impairment in certain individuals harboring OPA1 mutation. Patients with DOA should avoid using neurotoxic HCQ and other medications that may interfere mitochondrial metabolism.
Objective: To assess the efficacy and safety of phakic refractive lens (PRL) implantation for the correction of ultra-high myopia. Methods: This self-controlled case series study included 39 eyes of 24 patients with ultra-high myopia who underwent PRL implantation at Shenzhen Eye Hospital between January 2018 and September 2020. The study comprised 13 eyes in 8 males and 26 eyes in 16 females, with a mean age of (31.15 ± 6.33) years. Postoperative parameters, including refraction, visual acuity (UCVA, BCVA), intraocular pressure, corneal endothelial cell count,vault, and surgical complication were observed. Results: The median follow-up time was 5.5 (3, 11) months. The refraction significantly decreased from preoperative (-22.29±4.96) D to postoperative (-0.28±1.01) D (t=24.421, P<0.001). Postoperatively, 82.4% of eyes achieved a spherical degree within ±0.5 D, and 91.2% within ±1.0 D. LogMAR UCVA significantly improved from 1.40 (1.30, 1.70) preoperatively to (0.28±0.20) postoperatively. LogMAR BCVA significantly improved from 0.40 (0.22, 0.70) preoperatively to 0.15 (0.00, 0.30) postoperatively (P<0.001 for all). Postoperative BCVA improved by 3.00 (1.00, 5.00) lines compared with preoperative BCVA, with no instances of BCVA loss in any patient. Intraocular pressure values showed significant differences among preoperative, 1 day postoperative and last follow up (F=8.779, P=0.012). Intraocular pressure increased significantly 1 day after surgery compared to before surgery (Z=-3.401, P=0.001), but decreased significantly at the last follow-up compared to 1 day postoperatively(Z=-2.685, P=0.007), with no significant difference in intraocular pressure between preoperative and last follow-up (Z=-0.894, P=0.371). Corneal endothelial cell count decreased significantly from preoperative (2 782.20±296.30)/mm2 to postoperative (2 472.54±394.32)/mm2 (t=?5.437, P<0.001), with a mean loss of 11.2%. The average vault at the last follow-up was (379.00±283.27) μm, of which 0~250 μm in 12 eyes (36.4%), 250~750 μm in 19 eyes (57.6%), and > 750 μm in 2 eyes (6%). In 21 eyes, the vault at 3 months postoperative (269.81±194.67) μm was significantly lower than that at 1 month postoperative (373.62±195.75) μm (t=?2.917, P=0.009). Postoperative complications included steroid-induced glaucoma (2 eyes in 1 case), PRL optical surface crack (1 eye), macular hemorrhage (1 eye), and PRL decentration (3 eyes in 2 cases). Conclusions: PRL implantation is a safe and effective intraocular refractive surgery for ultra-high myopic patients. Nonetheless, it should be neccessary to observe for long-term efficacy and saff lens; high myopia
Polypoidal choroidal vasculopathy (PCV) is a common blinding disease in Asian populations. Massive hemorrhage secondary to PCV includes subretinal hemorrhage (SRH) and vitreous hemorrhage (VH). The risk factors for SRH include a long duration, clustered PCV, and non-regression of polyp lesions. The treatments for SRH including anti-vascular endothelial growth factor drugs, photodynamic therapy, laser, vitreous pneumatic displacement, intravenously injected tissue plasminogen activator, vitrectomy and combination therapy. Whether macular fovea is involved and the time since bleeding onset are the main factors affecting the choice of treatment for SRH. Older age of onset, history of hypertension, retinal pigment epithelium detachment, photodynamic therapy history and larger SRH area were associated with higher risk of VH. PCV patients with massive VH should be treated with vitrectomy, while the timing and technique of operation should be paid attention to. At present, the risk factors of PCV massive bleeding are not completely clear, and its treatment methods are diverse, which requires a large number of studies to prove its effectiveness and establish expert diagnosis and treatment consensus.
This paper raises questions on the article titled Expert consensus on the application of retrobulbar block issued by Eye Science, Vol. 38, No. 9, 2023. We consider that there are objections to the contraindications, operating steps, and causes of postoperative ptosis and contralateral amaurosis of retrobulbar block anesthesia.
Objective: To review the medical records and genetic etiology of a family with congenital nuclear cataract. Method: A slit lamp photo was used to capture the characterization of the anterior segment. High throughput sequencing technology was applied to detect genetic eye disease related genes in the proband, screen for related variants, and Sanger sequencing method was used to verify mutation sites in the proband and family members, determining a new type of CRYGC gene mutation. Result: The second generation of this family is autosomal dominant inheritance, with clinical phenotypes of congenital nuclear cataracts and microphthalmia; The CRYGC gene test showed a new heterozygous mutation on chromosome 2q33.3 C130fs, mutation type is frameshift mutation. Conclusion: The CRYGC (p.C130fs) mutation is one of the pathogenic molecular basis for this congenital nuclear cataract family.
Ferroptosis is a newly identified form of cell death distinguished by iron accumulation and lipid peroxidation. In the field of ophthalmology, research on ferroptosis is progressively expanding, particularly focusing on age-related macular degeneration, glaucoma, diabetic retinopathy, retinitis pigmentosa, and retinal degenerative diseases. The iron metabolism pathway is a primary mechanism for regulating iron homeostasis. Key proteins such as transferrin (TF), divalent metal transporter 1 (DMT1), ferritin (FT), and ferroportin 1 (FPN1) play critical roles in ferroptosis, which is implicated in retinal degenerative diseases. This article provides a review of the concept of ferroptosis, its relationship with the retina, the regulatory pathways of ferroptosis, and the key proteins involved in iron metabolism within retinal degenerative diseases.
Aims: To investigate the relative risk of pretransplant corneal vascularisation on rate of rejection and graft failure within 5 years of surgery when categorised by indication for transplantation. Methods: We analysed all adults recorded in the UK transplant registry who had a first cornea transplant for keratoconus (KC), pseudophakic bullous keratopathy (PBK) or previous infection (viral/bacterial/fungal/protozoan) between 1999 and 2017. We analysed the number of quadrants of the recipient cornea vascularised before transplant and type of vascularisation, the interval post- transplant to rejection, if any, and the outcome at 5 years post-transplant. Risk factors for rejection and transplant failure were modelled by multivariable risk-adjusted Cox regression. Results: Corneal vascularisation was recorded in 10%, 25% and 67% of patients with KC, PBK and infection, respectively. Individuals with PBK had an increased hazard of transplant rejection only when there were more than two quadrants of vascularisation (HR 1.5, p=0.004) when either superficial and/or deep vascularisation was present (HR 1.3 and 1.4, respectively, p=0.004). Individuals who had a transplant for previous infection had an increased hazard of rejection with four quadrants of vascularisation (HR 1.6, p=0.003). There was no risk-adjusted increase in transplant failure associated with vascularisation in any group. There was weak evidence of reduction in risk of rejection and/or failure associated with lamellar compared with penetrating transplantation in KC and PBK in vascularised recipient corneas. Conclusion: Vascularisation is a risk factor for corneal allograft rejection within 5 years. The indication for transplantation has a clinically significant effect on the magnitude of this risk.
Objective To understand the current situation and changing trend of low vision among school aged children aged 6-12 in Karamay, Xinjiang, from 2016 to 2021, and provide direction and reference for the prevention and control of low vision. Methods The visual acuity monitoring data of 6~12 years old school children in Karamay urban area from 2016 to 2021 were collected randomly. The detection rate of low vision in different years, genders, nationalities and age groups in Karamay was analyzed systematically, and the comparison and trend analysis were carried out. Results From 2016 to 2021, the detection rate of low vision among school-age children in Karamay City was 30%, 21.8%, 21.4%, 34.4%, 36.4% and 34.3% respectively, showing an overall upward trend. The detection rate of low vision over the years was slightly higher in girls than in boys (P>0.05), and that of Han children was higher than that of minority children. Middle age group>low age group>high age group. The detection rate of low vision among students of different gender, nationality and age groups showed an upward trend (P<0.01), and the increase rate of girls (19.9%) was higher than that of boys (9.03%), the increase rate of minority children (25.4%) was higher than that of Han children (20.5%), and the increase rate of middle age children (21.8%) was higher than that of low age children (16.4%) and high age children (4.1%). Conclusion The detection rate of low vision in school age children in Karamay City has differences between ethnic groups and age groups, and shows a trend of low age development, focusing on the visual health of children after the age of 10; The rate of poor vision is on the rise. We should continue to strengthen screening, prevention and control to improve the visual health level of school-age children.
