[Myopia and ocular fundus changes. IV. Retinal detachment associated with degenerative myopia (author's transl)].
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Adolescent↗
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Results for “Myopia, Degenerative”
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Risk Factors and Predictive Model for Postoperative High Myopia in Children Undergoing Congenital Cataract Surgery With Intraocular Lens Implantation.
PURPOSE: To identify risk factors associated with the development of high myopia following congenital cataract surgery and to establish a robust predictive model. DESIGN: Retrospective clinical cohort study. SUBJECTS: This retrospective study included 106 pediatric patients who underwent congenital cataract surgery with primary IOL implantation (mean follow-up 8.19 years). The model was externally validated in an independent cohort of 72 patients with a mean follow-up of 7.83 years. METHODS: Preoperative and postoperative ocular biometric parameters were collected. Risk factors for postoperative high myopia were analyzed using Cox proportional hazards regression, which served as the basis for model construction. The predictive performance of the model was rigorously evaluated for discrimination and calibration. Discriminative ability was quantified using Harrell's C-index and the area under the receiver operating characteristic curve (AUC). Model calibration was assessed via calibration plots by comparing predicted probabilities with actual observed outcomes. Internal validation was performed using a bootstrapping method (500 iterations) to ensure model stability and adjust for potential overfitting. RESULTS: An initial postoperative refraction of <+0.75D, and a higher IOL Power to Axial length Ratio (IOL/AL ratio) were identified as significant risk factors for the development of postoperative high myopia. Shorter preoperative axial length was associated with a greater magnitude of postoperative myopic shift. The predictive model demonstrated robust performance, achieving a C-index of 0.711 (internal validation C-index: 0.713). The area under the receiver operating characteristic curve (AUC) values for predicting high myopia at 5 and 10 years were 0.858 and 0.745, respectively. Furthermore, calibration curves demonstrated excellent agreement between the predicted and observed outcomes throughout the follow-up period. In external validation, the model achieved a C-index of 0.825, 5-year AUC of 0.833, and 10-year AUC of 0.713. CONCLUSIONS: Our analysis established that initial postoperative refraction <+0.75D, and an elevated IOL/AL ratio are key determinants of high myopia risk following surgery. Shorter preoperative axial length was associated with a greater magnitude of postoperative myopic shift. This predictive framework provides clinicians with a practical tool to optimize preoperative IOL selection and identify high-risk infants who require vigilant myopia prevention and balanced amblyopia management.
Humans↗
Identifying potential therapeutic targets for high myopia via a case-control study and Mendelian randomisation analyses of the human blood metabolome.
BACKGROUND: High myopia increases the risk of pathological ocular changes that may lead to irreversible vision loss. Therefore, the identification of potential biomarkers and therapeutic targets for high myopia is essential for early intervention and prevention. METHODS: Summary statistics for 122 blood metabolites were obtained from three genome-wide association studies (GWASs), whereas data on high myopia were derived from a large GWAS conducted with 50,372 participants from the UK Biobank. Mendelian randomisation (MR) analyses were conducted to assess the causal relationships between blood metabolites and high myopia. A real-world case-control study was conducted to validate the causal associations identified in the MR analyses. RESULTS: The systematic MR analysis identified 5 blood metabolites as both biomarkers and potential drug targets for high myopia, including glutamine (odds ratio [OR]: 0.98, 95% confidence interval [CI]: 0.97-1.00), tyrosine (OR: 0.98; 95% CI: 0.97-0.99), degree of unsaturation (OR: 0.98, 95% CI: 0.98-0.99), docosahexaenoic acid (DHA) (OR: 0.99; 95% CI: 0.98-1.00) and isobutyrylcarnitine (OR: 1.09, 95% CI: 1.05-1.13). The case-control study indicated that the levels of glutamine (OR = 0.76, 95% CI: 0.58-0.98) and tyrosine (OR = 0.72, 95% CI: 0.55-0.94) were significantly associated with a decreased risk of high myopia. CONCLUSIONS: Systematic MR analysis suggested that glutamine, tyrosine, the degree of unsaturation, DHA, and isobutyrylcarnitine may represent promising drug targets for high myopia prevention. Further investigations are needed to validate the therapeutic efficacy and elucidate the underlying mechanisms involved.
Humans↗
[Vitamin PP in treatment of degenerative changes caused by high-grade myopia (author's transl)].
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Adolescent↗
[Improvement of visual acuity of intensely myopic patients during their eye-cure stay at Bad Hall (author's transl)].
Intensely myopic patients in the Eye Department of the Paracelsus-Institute in Bad Hall (Upper Austria) were subjected to visual acuity tests whereby the conditions of examination were held constant (optotype-projector, panoramic visual range, exactly defined break-off criteria). Results showed that 33% of the patients, who had completed combined iodine treatments and ophthalmo-iontophoresis, showed an improvement in visual acuity of 3 or more optotypes, corresponding to an average increase thereof of 0,13 from the initial visual power. Side effects of intense myopia (dilatation tension and degenerative changes at the posterior eye pole) should thus be regarded as an indication of the successful application of the combined balneotherapy, mineral water treatment and eye-cure in Bad Hall.
Aged↗
["Implicit time". Practical and theoretical aspects].
52 normal subjects were studied as control for our "Ganzfeld" method of E.R.G. Separately 132 patients with different retinopathies; inflammatory and degenerative (or dystrophic) were studied and results compared and discussed. It seems that the amplitude is involved - diminished - in some retinopathies, but implicit time only when widespead alteration of neuro-epithelim accured.
Adolescent↗
Vitreoretinal degeneration as a sign of generalized connective tissue diseases.
Dominant vitreoretinal degeneration was first described by Wagner as a benign ocular condition. This term has since become widely associated with a familial retinal degenerative process accompanied by retinal detachments, even though nobody in the family described by Wagner suffered from a retinal detachment. Vitreoretinal degeneration, often progressing to detachments, occurs also in several distinct bone dysplasias. I have provided a classification of syndromes with vitreoretinal degeneration and its signficance as a sign of connective tissue diseases (probably involving type II collagen). In this sense, it is similar to ectopia lentis as a sign of various connective tissue diseases.
Abnormalities, Multiple↗
Identification of IDH3G, encoding the gamma subunit of mitochondrial isocitrate dehydrogenase, as a novel candidate gene for X-linked retinitis pigmentosa.
PURPOSE: Retinitis pigmentosa (RP) is a genetically heterogeneous group of retinal degenerative disorders characterized by the loss of rod and cone photoreceptors, leading to visual impairment and blindness. To date, to our knowledge, X-linked RP has been associated with variants in 3 genes (RPGR, RP2, and OFD1), whereas genetic defects at 3 loci (RP6, RP24, and RP34) are yet unidentified. The aim of this study was to identify a novel candidate gene underlying X-linked RP. METHODS: Participants were identified from cohorts of genetically unsolved male individuals affected by RP, who underwent genome sequencing, exome sequencing, or candidate gene screening via direct Sanger sequencing at 3 referral centers. Specifically, 2 probands were identified at the National Reference Centre for Rare Retinal Diseases (Paris, France), 2 at the Massachusetts Eye and Ear Hospital (Boston, MA), and 1 at the National Reference Centre for Inherited Sensory Diseases (Montpellier, France). The pathogenicity of the identified variants was assessed using bioinformatic predictions, protein expression analyses, and mitochondrial function assays. RESULTS: We identified 4 rare single-nucleotide variants in IDH3G (HGNC:5386), located at the RP34 locus on the X chromosome, and a complete gene deletion, in 5 unrelated male individuals affected with nonsyndromic RP. The variants segregated with the phenotype in all available family members. In all cases, the disease severity was intermediate. None had high myopia. IDH3G encodes the γ subunit of mitochondrial isocitrate dehydrogenase (IDH3), an enzyme involved in the citric acid cycle, which is expressed in the inner segments of photoreceptors. Variants in IDH3A and IDH3B, encoding the other subunits of IDH3, have already been associated with nonsyndromic autosomal recessive RP. Bioinformatic predictions and functional assays support a pathogenic role for the variants identified in this study, possibly through partial loss of enzymatic activity and mitochondrial function. CONCLUSION: Our findings suggest that variants in IDH3G are a novel cause of X-linked RP.
Humans↗