A novel mutation of RPGR in a Chinese family with X-linked retinitis pigmentosa.

AIM: To identify potential mutations and elucidate the clinical findings of male patients and female carriers of X-linked retinitis pigmentosa (XLRP) in a Chinese family. METHODS: A four generation pedigree was collected that consisted of 20 individuals. Genomic DNA was extracted from peripheral blood, and then the target fragments were amplified by PCR and sequenced directly. In addition, all affected patients and female carriers underwent comprehensively ophthalmic evaluation. RESULTS: A novel mutation c.2865G>A p.W955X in RPGR gene was identified of this family, including four affected individuals and eight carriers. All male patients, aging from 7 to 31y, tended to have more various, even potentially deleterious clinical features of RP. At the same time, individuals with heterozygous mutations (carriers) manifested a wide spectrum of clinical features. Herein, only two male patients and three female carriers manifested pathological myopia (PM). Among the female carriers, half of subjects who harbor poor visual acuity suffered esotropia or exotropia. Additionally, 16.7% and 66.7% of carriers had abnormal electroretinogram (ERG) and fundus, respectively. CONCLUSION: In this study, a novel mutation of the RPGR gene is identified, which broadens the spectrum of RPGR mutations, and elaborates the relationship between genotype and phenotype.

Application of vitamin A palmitate eye gel and nurse value of Watson's theory of caring in children with dry eye after strabismus surgery: a randomized trial.

BACKGROUND: After strabismus surgery, the local swelling of conjunctival wound will affect the uniform distribution of tears on the ocular surface, and the inflammatory reaction will affect the stability of tear film, which will easily lead to iatrogenic dry eye. This study aimed to investigate the effect of vitamin A palmitate (VAP) eye gel application in dry eye and the advantages of Watson's theory of caring. METHODS: Two hundred and forty children with dry eye after strabismus surgery treated in our hospital from September 2018 to September 2020 were selected as the study subjects, and were randomly divided into control group and observation group according to the allocation ratio of 1:1. Watson's theory of care nursing was applied in the observation group, and VAP eye gel was additionally dropped into the eye. Mouse conjunctival goblet cells (GCs) were used to detect the effect of VAP on the growth of GCs. Treatment compliance, improvement of dry eye symptoms [Schirmer I test (SIT), tear film break-up time (BUT), and fluorescent staining (FL) score], inflammatory factor levels in tears, clinical efficacy, and parents' satisfaction were compared. RESULTS: It was found that VAP eye gel could better promote the proliferation of GCs. After nursing and clinical treatment, the dry eye symptoms were improved in all included children, and improvements in the SIT, BUT, and FL scores were more obvious in the observation group. Watson's theory of care nursing could effectively improve the children's treatment compliance and parents' satisfaction. CONCLUSIONS: As a result, the application of VAP eye gel and Watson's theory of care nursing could effectively reduce the occurrence of dry eye after strabismus surgery, and were of great importance for improving the relationship between nurses and patients and building a harmonious hospital. TRIAL REGISTRATION: Chinese Clinical Trial Registry ChiCTR2100049136.

Prediction of potential drugs and targets based on meibomian gland dysfunction module classification to guide individualized treatment.

Meibomian gland dysfunction (MGD) is an epidemic chronic ocular inflammation. However, little is known about its effective treatment. Here, this study identified important MGD-related genes, core regulators, and potential drugs and their targets though integrating a series of bioinformational analyses. First, there were 665 differentially expression genes (DEGs) were identified. Then, 56 coexpression modules were exacted based on the expression of DEGs and their interactors. Moreover, core transcription factors (TF) significantly regulated modules were identified, including RELA, HIF1A, SIRT1, and MYC, which related to variety of eye diseases. Finally, the prediction of potential drugs and the identification of their target were performed. The results showed that artenimol, copper, and glutathione may have the remarkable curative effect or the toxicology to MGD. Moreover, their targets module gene LDHA (lactate dehydrogenase A), ENO1 (enolase 1), ALB (albumin), and PKM (pyruvate kinase M) are play important role in eye diseases. It suggests that these potential drugs may be useful for the treatment of MGD by acting on their targets. It provides valuable references for drug redirection and new drug development for drug developers, and provides individualized treatment strategies for tarsal gland dysfunction.

[The effect of superior oblique recession on the status of ocular torsion].

OBJECTIVE: To investigate the effect of superior oblique recession on the status of ocular torsion. METHODS: Twenty patients (31 eyes ) underwent superior oblique recession for treatment of superior oblique overacting, 11 cases had both eyes involvement while 9 had monocular.Objective cyclotorsion were examined pre-operation, as well as 1, 30, 90 days post-operation with fundus photograph. The photographs were transferred to a computer and then the fovea-disa angle (FDA) was measured by a software for drawing pictures.Subjective cyclotorsion were assessed by double Maddox rod test and synoptophore, while the binocular vision function by Bagolini glasses and Titmus. RESULTS: For 11 cases of the both eyes involvement, preoperation FDA was 9.50° ± 5.12° in the right eyes, 8.23° ± 3.45° in the left eyes, there was not statistically significant between two eyes(t = 1.12, P = 0.29). For 9 cases of the monocular eye involvement, preoperation FDA was 6.55° ± 4.14° in the affected eyes, 6.85° ± 5.08° in the follow eyes, there was also not statistically significant between two eyes (t = 0.13, P = 0.90). To 11 cases of the both eyes involvement, the combined FDA of preoperation and 1, 30, 90 days after operation were 17.74° ± 7.89° and 7.63° ± 4.28°, 6.05° ± 6.11°, 7.33° ± 6.17° respectively. The comparision of objective ocular cyclotorsion for both eyes showed significant difference pre-and post-operation (F = 8.245, P < 0.01) . To 9 cases of the monocular eye involvement, the combined FDA of preoperation and 1, 30, 90 days after operation were 13.40° ± 6.13° and 5.06° ± 3.99°, 3.59° ± 3.47°, 5.07° ± 3.35° respectively. The comparision of objective ocular cyclotorsion showed significant difference pre-and post-operation (F = 9.351, P < 0.01) .Four patients had subjective cyclotorsion, but it's different with objective cyclotorsion before and after surgery.8 patients' binocular vision function were ameliorated after surgery. CONCLUSION: Recession of overaction superior oblique muscles can correct ocular incyclodeviation effectively.