ObjectiveTo observe the clinical features and prognosis of eyes with corneal suture-related infective endophthalmitis. MethodsA retrospective interventional case series. From January 2020 to December 2021, 5 patients (5 eyes) with corneal suture-related infectious endophthalmitis diagnosed by ophthalmic examination at Department of Ophthalmology of the Eye-ENT Hospital of Fudan University were included in the study. Among them, there were 3 males and 2 females; all had unilateral disease; the mean age was 30.80±21.98 years. Sutures of 4 cases were secondary to lens related surgery and of 1 case was secondary to penetrating keratoplasty. Average retention time of corneal suture was 20.00±7.41 months. Of the 5 eyes, corneal sutures were removed in 1 eye due to redness and eye pain in another hospital; 3 eyes were loosened of the sutures in the remaining 4 eyes. The patients were given standard treatment for infectious endophthalmitis, including systemic and local anti-infective therapy; corneal suture removal, intraocular injection, and vitrectomy (PPV). In PPV, it was decided whether to give silicone oil filling according to the situation. The follow-up time after treatment was 11.00±7.38 months. The best corrected visual acuity (BCVA), B-mode ultrasound and microbial culture results of the affected eye before and after surgery were observed and analyzed.ResultsInfiltrates, ulcers, or abscesses surrounding the suture may be seen on the cornea of the affected eye. B-mode ultrasonography showed vitreous opacity, preretinal cords, and spherical wall edema in the entire segment of the affected eye. The results of vitreous humor culture were positive in 3 eyes, which were Streptococcus viridis, Staphylococcus hominis subspecies, Staphylococcus epidermidis. After treatment, all the intraocular infections in the affected eyes were successfully controlled, and there were no cases of enucleation of ocular contents or enucleation. Before treatment, the BCVA of the affected eye was from no light perception to counting fingers; after treatment, 2 eyes had BCVA＞0.3. ConclusionsInfiltration, ulcers or abscesses around the sutures can be seen in the cornea of corneal suture-related infective endophthalmitis patients, which are related to the long-term retention of the sutures in the eye. Most of the affected eyes have loose sutures when they go to the doctor; timely treatment can effectively control the infection, and some eyes have good visual prognosis.
Retinitis pigmentosa (RP) is a group of hereditary blinding fundus diseases caused by abnormalities in photoreceptors of the retina. RP is highly heterogeneous in hereditary and cdinical phenotypes. It can be divided into simple type RP and syndrome type RP. The main inheritance patterns are autosomal dominant, autosomal recessive inheritance and X-linked inheritance. With the popularization and clinical application of gene sequencing technology, more and more disease-causing genes have been discovered, and these genes are mainly expressed in photoreceptor cells and retinal pigment epithelial cell. ln-depth understanding of RP pathogenic genes not only provides a theoretical basis for RP diagnosis and genetic counseling, but also provides guidance for RP gene therapy.
Stargardt disease (STGD) is one of the most prevalent inherited macular dystrophy, and most often occurs in child or adolescence. Irreversible vision loss is observed in almost all cases. Type 1 (STGD1) is one of the most common type. It is an autosomal recessive condition, caused by mutations in the Abca4 gene. In recent years, encouraging progress has been made in the treatment of STGD1. C20-D3-retinyl acetate (ALK-001), fenretinide and ICR-14967 (A1120) as visual cycle modulators, StarGen as gene supplementation therapies, and the stem cell transplantation of human embryonic stem cell-derived retinal pigment epithelium cells are the most promising therapies. With the development of studies and clinical trials, the clinical application of various treatments of STGD1 are expected in the near feature, which are expected to save the vision of most patients.
ObjectiveTo observe and analyze the clinical and genotypic characteristics of patients with X-linked ocular albinism type 1 (OA1) and their female carriers. MethodsA retrospective clinical study. Five unrelated families (all male) with OA1 diagnosed through genetic testing and treated at Eye & ENT Hospital of Fudan University from January 2021 to November 2025 were included. A total of 5 probands and 3 female carriers were involved. Information on the medical history and family history of all participants was collected. Four probands and 3 female carriers underwent best corrected visual acuity (BCVA), slit lamp microscopy, fundus autofluorescence, fundus color photography, and optical coherence tomography examinations. Peripheral venous blood was collected from all participants, and whole genome DNA was extracted for whole-exome sequencing to identify potential pathogenic loci, followed by pathogenicity analysis and Sanger sequencing verification. According to the relevant guidelines of the American College of Medical Genetics and Genomics (ACMG), the pathogenicity of the newly discovered genetic variations was evaluated. ResultsAll five probands were male, and their ages at the time of consultation ranged from 3 months to 18 years. All probands presented with bilateral nystagmus, with BCVA ranging from 0.1 to 0.3. Ocular examination revealed mild iris pigment distribution abnormalities in 2 cases, varying degrees of choroidal vascular exposure and mild to moderate retinal pigment loss in 3 cases; foveal hypoplasia in 3 cases, with grades ranging from Ⅲ to Ⅳ. Typical "muddy-splashed" fundus pattern could be observed from the mid-periphery to the periphery of the retina in the fundus of 3 female carriers. A total of 5 GPR143 gene variations highly correlated with the phenotype were identified through genetic testing, including 3 deletion variations (exon 1-9, exon 1, exon 2-3 deletion) and 2 nonsense variations (c.278T>A, c.333G>A). Among them, the proband in family 1 carried a hemizygous nonsense variation of GPR143 gene exon 2 c.278T>A (p.Leu93*). According to the ACMG guidelines, this variation meets the extremely strong evidence of pathogenicity (PVS1), and has not been reported in the gnomAD database, representing a novel variant with no previous literature reports (PM2_Supporting). The overall assessment was that it was a likely pathogenic variant. ConclusionsThe clinical phenotype of OA1 shows a high degree of heterogeneity. Nystagmus, foveal hypoplasia, and the characteristic "mud-splattered" fundus pattern in female carriers are important clinical diagnostic clues, but genetic testing remains the gold standard for diagnosing this disease.