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1.
Invest Ophthalmol Vis Sci ; 65(11): 7, 2024 Sep 03.
Artículo en Inglés | MEDLINE | ID: mdl-39230993

RESUMEN

Purpose: To use finite element (FE) analysis to assess what morphologic and biomechanical factors of the iris and anterior chamber are more likely to influence angle narrowing during pupil dilation. Methods: The study consisted of 1344 FE models comprising the cornea, sclera, lens, and iris to simulate pupil dilation. For each model, we varied the following parameters: anterior chamber depth (ACD = 2-4 mm) and anterior chamber width (ACW = 10-12 mm), iris convexity (IC = 0-0.3 mm), iris thickness (IT = 0.3-0.5 mm), stiffness (E = 4-24 kPa), and Poisson's ratio (v = 0-0.3). We evaluated the change in (△∠) and the final dilated angles (∠f) from baseline to dilation for each parameter. Results: The final dilated angles decreased with a smaller ACD (∠f = 53.4° ± 12.3° to 21.3° ± 14.9°), smaller ACW (∠f = 48.2° ± 13.5° to 26.2° ± 18.2°), larger IT (∠f = 52.6° ± 12.3° to 24.4° ± 15.1°), larger IC (∠f = 45.0° ± 19.2° to 33.9° ± 16.5°), larger E (∠f = 40.3° ± 17.3° to 37.4° ± 19.2°), and larger v (∠f = 42.7° ± 17.7° to 34.2° ± 18.1°). The change in angles increased with larger ACD (△∠ = 9.37° ± 11.1° to 15.4° ± 9.3°), smaller ACW (△∠ = 7.4° ± 6.8° to 16.4° ± 11.5°), larger IT (△∠ = 5.3° ± 7.1° to 19.3° ± 10.2°), smaller IC (△∠ = 5.4° ± 8.2° to 19.5° ± 10.2°), larger E (△∠ = 10.9° ± 12.2° to 13.1° ± 8.8°), and larger v (△∠ = 8.1° ± 9.4° to 16.6° ± 10.4°). Conclusions: The morphology of the iris (IT and IC) and its innate biomechanical behavior (E and v) were crucial in influencing the way the iris deformed during dilation, and angle closure was further exacerbated by decreased anterior chamber biometry (ACD and ACW).


Asunto(s)
Análisis de Elementos Finitos , Iris , Pupila , Humanos , Iris/anatomía & histología , Pupila/fisiología , Fenómenos Biomecánicos , Glaucoma de Ángulo Cerrado/fisiopatología , Presión Intraocular/fisiología , Cámara Anterior/diagnóstico por imagen , Cámara Anterior/anatomía & histología , Córnea/fisiología , Córnea/anatomía & histología , Esclerótica
2.
Narra J ; 4(2): e892, 2024 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-39280313

RESUMEN

Lens drop and intraocular lens (IOL) drop can occur after cataract or phacoemulsification surgery, where the IOL is dislocated from the capsular bag into the vitreous cavity. The aim of this study was to investigate the short-term outcomes of implanting a retropupillary iris-claw in patients with IOL drop and lens drop after phacoemulsification. A cross-sectional study was conducted at Santosa Hospital, Bandung, West Java, Indonesia, from January 2020 to December 2023. Patients were divided into two groups: IOL drop and lens drop groups. Total sampling was used, involving 51 patients in the present study, with 27 patients in the IOL drop group and 24 patients in the lens drop group. Data collected included age, sex, eye laterality, the onset of IOL drop or lens drop, intraocular pressure (IOP), uncorrected distance visual acuity (UDVA), corrected distance visual acuity (CDVA), record of astigmatism change preoperative and postoperative, and postoperative pars plana vitrectomy (PPV) complications. Our data indicated that the UDVA significantly improved in both IOL drop and lens drop groups after PPV surgery (p<0.001). However, there were no significant changes in IOP or astigmatism following the surgery in either group. Over one month, both groups showed improved UDVA, decreased IOP, and changes in astigmatism, with no significant differences between groups. Similarly, there was no significant difference in CDVA between IOL drop and lens drop groups. Only four complications were recorded in the present study. Comparing IOL drop and lens drop groups, only an increase in IOP showed a significant difference (p=0.018). Corneal edema, IOL decentration, and pupil ovalization were not significantly different. In conclusion, retropupillary iris-claw IOL implantation is safe and effective for aphakic patients with complications from phacoemulsification, regardless of whether it is lens drop or IOL drop.


Asunto(s)
Implantación de Lentes Intraoculares , Lentes Intraoculares , Facoemulsificación , Agudeza Visual , Humanos , Femenino , Masculino , Estudios Transversales , Implantación de Lentes Intraoculares/métodos , Implantación de Lentes Intraoculares/efectos adversos , Persona de Mediana Edad , Agudeza Visual/fisiología , Facoemulsificación/métodos , Anciano , Iris/cirugía , Indonesia , Complicaciones Posoperatorias/etiología , Complicaciones Posoperatorias/epidemiología , Resultado del Tratamiento , Astigmatismo/cirugía
3.
BMC Ophthalmol ; 24(1): 375, 2024 Aug 26.
Artículo en Inglés | MEDLINE | ID: mdl-39187792

RESUMEN

BACKGROUND: Posterior chamber intraocular lens (IOL) dislocation is a common complication of cataract surgery. Dislocated IOLs often require surgical intervention due to the potentially severe risks of leaving this condition untreated. If a patient with extremely low corneal endothelial cell density (ECD) presents with IOL dislocation, the surgeon faces a crucial dilemma of choosing the most optimal surgical treatment option. We sought to investigate the efficacy and safety of retropupillary iris claw intraocular lens (R-IOL) implantation in patients with IOL dislocation and extremely low (< 1000 cells/mm2) ECD. METHODS: We retrospectively reviewed the medical records of nine patients (all men) whose pre-operative ECD was < 1000 cells/mm2 and who underwent R-IOL implantation due to intraocular subluxation or total dislocation into the vitreous cavity between 2014 and 2020. We evaluated corneal endothelial function and visual outcomes after surgery. RESULTS: Nine patients were included in this study. The mean age at diagnosis was 64.89 ± 7.15 years (range 57-76 years), and the follow-up duration was 37.93 ± 23.72 months (range 18.07-89.07 months). No patients developed bullous keratopathy during follow-up. Compared to the initial ECD, corneal thickness (CT), coefficient variation of cell area (CV) and percentage of hexagonal cells (HEX), there was no statistically significant decrease in the ECD, CV, and HEX at last follow-up (P = 0.944, 0.778, 0.445, 0.443). There was significant improvement in the mean uncorrected distance visual acuity (UDVA) at the last follow-up (average 0.13 logMAR, 20/27 Snellen) compared to the pre-operative mean UDVA (average 1.09 logMAR, 20/250 Snellen) (P < 0.01). CONCLUSIONS: R-IOL implantation did not result in a statistically significant decline in corneal endothelial function in patients with preoperatively low ECD, and it significantly improved the mean UDVA postoperatively. R-IOL implantation appears to be a safe and effective treatment modality for intraocular lens dislocation in patients with low ECD (< 1000 cells/mm²); however, long-term follow-up studies are warranted to corroborate these findings.


Asunto(s)
Endotelio Corneal , Implantación de Lentes Intraoculares , Lentes Intraoculares , Agudeza Visual , Humanos , Masculino , Persona de Mediana Edad , Anciano , Estudios Retrospectivos , Endotelio Corneal/patología , Agudeza Visual/fisiología , Recuento de Células , Implantación de Lentes Intraoculares/métodos , Iris/cirugía , Pérdida de Celulas Endoteliales de la Córnea/diagnóstico , Migracion de Implante de Lente Artificial/cirugía , Migracion de Implante de Lente Artificial/fisiopatología , Estudios de Seguimiento , Femenino , Resultado del Tratamiento
4.
Sensors (Basel) ; 24(15)2024 Jul 24.
Artículo en Inglés | MEDLINE | ID: mdl-39123851

RESUMEN

This work presents a novel approach to enhancing iris recognition systems through a two-module approach focusing on low-level image preprocessing techniques and advanced feature extraction. The primary contributions of this paper include: (i) the development of a robust preprocessing module utilizing the Canny algorithm for edge detection and the circle-based Hough transform for precise iris extraction, and (ii) the implementation of Binary Statistical Image Features (BSIF) with domain-specific filters trained on iris-specific data for improved biometric identification. By combining these advanced image preprocessing techniques, the proposed method addresses key challenges in iris recognition, such as occlusions, varying pigmentation, and textural diversity. Experimental results on the Human-inspired Domain-specific Binarized Image Features (HDBIF) Dataset, consisting of 1892 iris images, confirm the significant enhancements achieved. Moreover, this paper offers a comprehensive and reproducible research framework by providing source codes and access to the testing database through the Notre Dame University dataset website, thereby facilitating further application and study. Future research will focus on exploring adaptive algorithms and integrating machine learning techniques to improve performance across diverse and unpredictable real-world scenarios.


Asunto(s)
Algoritmos , Identificación Biométrica , Procesamiento de Imagen Asistido por Computador , Iris , Iris/diagnóstico por imagen , Humanos , Identificación Biométrica/métodos , Procesamiento de Imagen Asistido por Computador/métodos , Biometría/métodos , Bases de Datos Factuales , Aprendizaje Automático
5.
Commun Biol ; 7(1): 993, 2024 Aug 14.
Artículo en Inglés | MEDLINE | ID: mdl-39143195

RESUMEN

The pupillary light reflex (PLR) adapts the amount of light reaching the retina, protecting it and improving image formation. Two PLR mechanisms have been described in vertebrates. First, the pretectum receives retinal inputs and projects to the Edinger-Westphal nucleus (EWN), which targets the ciliary ganglion through the oculomotor nerve (nIII). Postganglionic fibers enter the eye-globe, traveling to the iris sphincter muscle. Additionally, some vertebrates exhibit an iris-intrinsic PLR mechanism mediated by sphincter muscle cells that express melanopsin inducing muscle contraction. Given the high degree of conservation of the lamprey visual system, we investigated the mechanisms underlying the PLR to shed light onto their evolutionary origins. Recently, a PLR mediated by melanopsin was demonstrated in lampreys, suggested to be brain mediated. Remarkably, we found that PLR is instead mediated by direct retino-iridal cholinergic projections. This retina-mediated PLR acts synergistically with an iris-intrinsic mechanism that, as in other vertebrates, is mediated by melanopsin and has contribution of gap junctions between muscle fibers. In contrast, we show that lampreys lack the brain-mediated PLR. Our results suggest that two eye-intrinsic PLR mechanisms were present in early vertebrate evolution, whereas the brain-mediated PLR has a more recent origin.


Asunto(s)
Iris , Reflejo Pupilar , Retina , Animales , Reflejo Pupilar/fisiología , Iris/fisiología , Iris/metabolismo , Retina/fisiología , Retina/metabolismo , Lampreas/fisiología , Contracción Muscular/fisiología , Opsinas de Bastones/metabolismo , Opsinas de Bastones/genética , Luz , Vertebrados/fisiología
6.
Cornea ; 43(10): 1306-1309, 2024 Oct 01.
Artículo en Inglés | MEDLINE | ID: mdl-38985894

RESUMEN

PURPOSE: Positive vitreous pressure (PVP) secondary to intraoperative acute hypotony during penetrating keratoplasty can result in extrusion of the intraocular lens and vitreous. Currently described techniques are difficult or impossible to apply intraoperatively when positive vitreous pressure is noticed in an "open sky" situation after excision of the host corneal button. METHODS: We describe a technique where pupil scaffolding is used to prevent intraocular lens or crystalline lens extrusion by simply closing the pupil with a temporary suture that holds the retropupillary contents back. Once the eye is thus stabilized, the donor cornea is sutured rapidly after which the pupillary knot is cut and removed using microscissors and microforceps. RESULTS: Five patients undergoing penetrating keratoplasty under peribulbar anesthesia underwent this technique after experiencing PVP after host corneal button excision. PVP was successfully controlled in all 5 patients, and the optical grafts remained clear in the postoperative period. CONCLUSIONS: Temporary pupillary scaffolding can help control PVP and prevent ocular content extrusion during PKP surgeries.


Asunto(s)
Queratoplastia Penetrante , Técnicas de Sutura , Cuerpo Vítreo , Humanos , Queratoplastia Penetrante/métodos , Cuerpo Vítreo/cirugía , Masculino , Femenino , Persona de Mediana Edad , Lentes Intraoculares , Pupila/fisiología , Complicaciones Intraoperatorias/prevención & control , Anciano , Iris/cirugía , Adulto
7.
Comput Biol Med ; 179: 108864, 2024 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-38991320

RESUMEN

Fractional-order (FO) chaotic systems exhibit random sequences of significantly greater complexity when compared to integer-order systems. This feature makes FO chaotic systems more secure against various attacks in image cryptosystems. In this study, the dynamical characteristics of the FO Sprott K chaotic system are thoroughly investigated by phase planes, bifurcation diagrams, and Lyapunov exponential spectrums to be utilized in biometric iris image encryption. It is proven with the numerical studies the Sprott K system demonstrates chaotic behaviour when the order of the system is selected as 0.9. Afterward, the introduced FO Sprott K chaotic system-based biometric iris image encryption design is carried out in the study. According to the results of the statistical and attack analyses of the encryption design, the secure transmission of biometric iris images is successful using the proposed encryption design. Thus, the FO Sprott K chaotic system can be employed effectively in chaos-based encryption applications.


Asunto(s)
Identificación Biométrica , Seguridad Computacional , Iris , Iris/diagnóstico por imagen , Iris/anatomía & histología , Humanos , Identificación Biométrica/métodos , Dinámicas no Lineales , Algoritmos , Procesamiento de Imagen Asistido por Computador/métodos , Biometría/métodos
10.
Lasers Med Sci ; 39(1): 167, 2024 Jul 02.
Artículo en Inglés | MEDLINE | ID: mdl-38954050

RESUMEN

Nowadays, lasers are used in various medical fields. Ophthalmology was the first medical specialty to utilize lasers in patient treatment and still remains the leading medical field that uses laser energy for both therapeutic and diagnostic purposes. The neodymium: yttrium-aluminum-garnet (Nd: YAG) laser is one of the most common lasers used in ophthalmology. It is a solid-state laser with a wavelength of 1064 nm that works on the principle of photodisruption. Since its introduction in ophthalmology over 40 years ago, it has found various applications, mainly for procedures where cutting or disruption of ocular tissue is required. Compared to surgical alternatives, the use of Nd: YAG lasers on ocular tissue is minimally invasive. In this review, we focus on the two most common ophthalmic applications of Nd: YAG laser - laser peripheral iridotomy and posterior capsulotomy. The history of the techniques, current trends, potential complications, and the prognosis for future use is discussed.


Asunto(s)
Láseres de Estado Sólido , Humanos , Láseres de Estado Sólido/uso terapéutico , Terapia por Láser/métodos , Terapia por Láser/instrumentación , Capsulotomía Posterior/métodos , Iridectomía/métodos , Oftalmología , Iris/cirugía
11.
Methods Mol Biol ; 2816: 253-263, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-38977604

RESUMEN

Lipids are compounds involved in many biologic functions including cell structure, metabolism, energy storage and are involved in signaling. A prominent lipid in these functions is cholesterol. Cholesterol also plays a part in the signaling of melanocytes, which contain melanosomes. The maturation of these melanosomes happens during melanocyte growth. The deficit of melanogenesis or melanosome maturation is associated with ocular albinism in the eye. Aberrations of melanosome maturation are also associated with pigment dispersion syndrome. Albinism and pigment dispersion manifestations are systemic. Both melanogenesis and melanocyte maturation are affected by cholesterol metabolism. Cholesterol signaling is a part of many pathways in the body, and evaluating these signals can have implications in systemic disease processes of melanogenesis and melanosome maturation, like ocular albinism and pigment dispersion. Cholesterol is carried by lipoprotein particles. Low-density lipoprotein (LDL) is usually the transport vehicle for cholesterol to reach tissues and organelles. The LDL uptake on cells often sends out a cascade of internal signaling within the cells. We describe here LDL signaling related to lipase activity changes using enzymatic methods with a kit. We describe analyses of cholesterol esters and free cholesterol with liquid chromatography and gas chromatography with or in tandem with mass spectrometry (GC-MS and LC-MS/MS). These analyses will provide insight into melanosome maturation and melanogenesis. The methods described here are applicable to all melanocytes within the body of a model mammalian organism.


Asunto(s)
Colesterol , Iris , Melanocitos , Transducción de Señal , Melanocitos/metabolismo , Humanos , Colesterol/metabolismo , Iris/metabolismo , Lipoproteínas/metabolismo , Melanosomas/metabolismo , Lipoproteínas LDL/metabolismo , Espectrometría de Masas en Tándem/métodos , Cromatografía de Gases y Espectrometría de Masas/métodos , Cromatografía Liquida/métodos , Lipasa/metabolismo , Melaninas/metabolismo , Ésteres del Colesterol/metabolismo
13.
J Cataract Refract Surg ; 50(8): 889-894, 2024 Aug 01.
Artículo en Inglés | MEDLINE | ID: mdl-39083409

RESUMEN

A 65-year-old man had uneventful cataract surgery in the right eye with a toric diffractive intraocular lens (IOL) placed fully within the capsule bag. On postoperative day 1 and week 1, the IOL was well positioned and his eye was healing normally. The plan was to proceed with cataract surgery in the left eye in the near future. One month postoperatively, he presented with blurred vision, glare, and halos and was noted to have iris prolapse out of the temporal clear corneal main incision. Of interest, the patient reported some itching and eye rubbing in the early postoperative period. He was taken back to surgery by the referring doctor, and despite 2 heroic attempts to reposit and save the iris tissue, there was significant iris loss causing transillumination defects and debilitating glare and halos. Ocular examination revealed an uncorrected distance visual acuity (UDVA) of 20/40 - 2 J3 and binocular corrected distance visual acuity (CDVA) 20/30 J1 in the right eye and UDVA of 20/60 J3 and binocular CDVA of 20/25 J1 in the left eye. Manifest refraction was -0.25 -1.25 × 155 in the right eye and plano -2.25 × 090 in the left eye. Fortunately, there was no relative afferent pupillary defect, and intraocular pressures were normal off all drops. On slitlamp examination of the right eye, pertinent findings revealed a protective ptosis, trace conjunctival injection with 1 large subconjunctival polypropylene flange at 8:30 o'clock 1.5 mm from the limbus and 1 exposed irregular polypropylene flange eroded through the conjunctiva at 10 o'clock 0.5 mm from the limbus (Figures 1 and 2JOURNAL/jcrs/04.03/02158034-202408000-00019/figure1/v/2024-07-30T221851Z/r/image-tiffJOURNAL/jcrs/04.03/02158034-202408000-00019/figure2/v/2024-07-30T221851Z/r/image-tiff). There was a localized area of erythema and scleral thinning surrounding the exposed flange. The cornea was edematous over the main incision. The iris was disinserted with atrophic changes and a residual iridodialysis extending from 8:30 to 10 o'clock. The trifocal IOL was fully in the capsule bag with trace fibrosis of the capsule and rotated approximately 7 degrees off the capsulotomy tab, designating the intended axis of 1 degree. The anterior chamber was deep and quiet, and the posterior segment was unremarkable with a 0.45 cup-to-disc ratio. Pertinent examination findings in the left eye included a 2 + NS cataract and a 0.45 cup-to-disc ratio. The remainder of the examination was otherwise unremarkable. What testing and surgical plan would you offer this patient? How would you counsel regarding postoperative expectations?


Asunto(s)
Iris , Implantación de Lentes Intraoculares , Lentes Intraoculares , Presbiopía , Agudeza Visual , Humanos , Anciano , Masculino , Presbiopía/cirugía , Presbiopía/fisiopatología , Agudeza Visual/fisiología , Iris/cirugía , Facoemulsificación , Enfermedades del Iris/cirugía , Enfermedades del Iris/etiología , Refracción Ocular/fisiología , Complicaciones Posoperatorias , Tartrato de Brimonidina/uso terapéutico
14.
J Med Life ; 17(4): 406-411, 2024 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-39071516

RESUMEN

The purpose of this study was to establish the normative data of horizontal visible iris diameter (HVID), vertical visible iris diameter (VVID), and palpebral fissure height (PFH) in a cohort of South Indian children. The study included 1,234 children from six schools of different regions of Tamil Nadu state, India. HVID, VVID, and PFH were measured using a simple millimeter ruler by three optometrists. Based on their age, the children were divided into three groups: preprimary school children (4-5 years), primary school children (6-10 years), and high school children (11-15 years). Mean age was 4.49 ± 0.50 years, 8.00 ± 1.41 years, and 12.87 ± 1.42 years in the three groups, respectively. Mean HVID was 10.45 mm, 10.54 mm, and 10.73 mm, respectively. Mean VVID was 9.18 mm, 9.32 mm, and 9.57 mm, respectively. Similarly, mean PFH was 8.15 mm, 8.30 mm, and 8.52 mm, respectively. There was a significant difference in HVID, VVID, and PFH among the three age groups (P ≤ 0.001), as well as among male and female children in the 6-10 years age group (P ≤ 0.05) but not in the other groups. Intraclass correlation coefficient values (0.78-0.95) show good agreement among the three optometrists for all parameters. The normal range of HVID, VVID, and PFH presented in the current study can help practitioners in the diagnosis of corneal disorders, serve as a basis for the design of contact lenses, and enable accurate intraocular lens power calculations for South Indian children.


Asunto(s)
Córnea , Humanos , Niño , India , Córnea/anatomía & histología , Masculino , Femenino , Adolescente , Preescolar , Valores de Referencia , Estudios de Cohortes , Iris/anatomía & histología , Párpados/anatomía & histología
16.
Comput Biol Med ; 177: 108631, 2024 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-38824787

RESUMEN

The incident light reflected from the cornea is rich in information about the human surroundings, and these reflected rays are imaged by the camera, which can be used for research on human consciousness and gaze analysis, and produce certain help in the fields of psychology, human computer interaction and disease diagnosis. However, limited by the low corneal reflection ability, when a high-definition camera captures corneal reflecting rays, a large amount of color and texture interference from the iris can seriously contaminate the corneal reflection images, resulting in low usability and ubiquity of corneal reflection images. In this paper, we propose a corneal reflection image extraction method with multiple eye images as input. We align the iris regions of multiple eye images with the help of iris localization method, and by comparing multiple iris regions, we obtain the complementary iris regions, so that the iris interference in the corneal reflection region can be stripped completely. A large number of experiments have demonstrated that our work can effectively mitigate iris interference and effectively improve the quality of corneal reflection images.


Asunto(s)
Córnea , Procesamiento de Imagen Asistido por Computador , Humanos , Córnea/diagnóstico por imagen , Procesamiento de Imagen Asistido por Computador/métodos , Iris/diagnóstico por imagen , Algoritmos
17.
Mol Genet Genomic Med ; 12(6): e2481, 2024 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-38867642

RESUMEN

PURPOSE: To characterize the phenotype and genotype of a Chinese family with autosomal-dominant retinitis pigmentosa (RP) accompanied by iris coloboma. METHODS: The proband, a 34-year-old male, was examined with his family by using fundus photography, optical coherence tomography (OCT), autofluorescence, and full-field electroretinography (ffERG). Genetic analyses were conducted through whole-exome sequencing (WES) to screen for variations. RESULTS: Three members of this Chinese family were shown to be bilateral iris coloboma. The male proband and his mother exhibited typical RP feature. The proband's late grandfather had been documented manifestation of iris coloboma. The mode of inheritance was confirmed to be autosomal dominance. Through linkage analysis and WES, a heterozygous variation in the miR-204 gene (n.37C>T), a noncoding RNA gene, was identified in these three members. CONCLUSIONS: In this third independent and the first Asian family, the existence of a miR-204 variant associated with RP accompanied by iris coloboma was confirmed. Our findings reinforce the significance of miR-204 as an important factor influencing visual function in the retina. When phenotypes like RP accompanied by iris coloboma in an autosomal-dominant pattern, including in Chinese patients, miR-204 aberrations should be considered.


Asunto(s)
Coloboma , MicroARNs , Linaje , Retinitis Pigmentosa , Adulto , Femenino , Humanos , Masculino , Persona de Mediana Edad , Coloboma/genética , Coloboma/patología , Pueblos del Este de Asia , Iris/anomalías , Iris/patología , MicroARNs/genética , Fenotipo , Retinitis Pigmentosa/genética
18.
Nat Commun ; 15(1): 5048, 2024 Jun 13.
Artículo en Inglés | MEDLINE | ID: mdl-38871723

RESUMEN

Despite the advent of genomic sequencing, molecular diagnosis remains unsolved in approximately half of patients with Mendelian disorders, largely due to unclarified functions of noncoding regions and the difficulty in identifying complex structural variations. In this study, we map a unique form of central iris hypoplasia in a large family to 6q15-q23.3 and 18p11.31-q12.1 using a genome-wide linkage scan. Long-read sequencing reveals a balanced translocation t(6;18)(q22.31;p11.22) with intergenic breakpoints. By performing Hi-C on induced pluripotent stem cells from a patient, we identify two chromatin topologically associating domains spanning across the breakpoints. These alterations lead the ectopic chromatin interactions between APCDD1 on chromosome 18 and enhancers on chromosome 6, resulting in upregulation of APCDD1. Notably, APCDD1 is specifically localized in the iris of human eyes. Our findings demonstrate that noncoding structural variations can lead to Mendelian diseases by disrupting the 3D genome structure and resulting in altered gene expression.


Asunto(s)
Cromatina , Iris , Linaje , Translocación Genética , Humanos , Cromatina/metabolismo , Cromatina/genética , Iris/metabolismo , Masculino , Femenino , Cromosomas Humanos Par 6/genética , Cromosomas Humanos Par 18/genética , Células Madre Pluripotentes Inducidas/metabolismo , Adulto , Enfermedades del Iris/genética , Enfermedades del Iris/metabolismo , Enfermedades del Iris/patología , Ligamiento Genético
20.
Int Ophthalmol ; 44(1): 269, 2024 Jun 24.
Artículo en Inglés | MEDLINE | ID: mdl-38914871

RESUMEN

PURPOSE: Evaluation of anterior segment parameters using the Scheimpflug corneal topography 1 year after surgery in patients who underwent sutureless scleral fixation intraocular lens (SFIOL) implantation using the modified Yamane technique and retropupillary iris-claw intraocular lens (RPIOL) implantation. METHODS: A total of 60 eyes from 57 patients who underwent sutureless SFIOL implantation and 57 eyes from 52 patients who underwent RPIOL implantation were included. Anterior chamber depth (ACD), anterior chamber angle (ACA), anterior chamber volume (ACV), anterior-posterior corneal astigmatism, and keratometric values were assessed using the Scheimpflug corneal topography (Pentacam HR, Germany). RESULTS: There was no statistically significant difference in postoperative UCVA and BCVA between the sutureless SFIOL and the RPIOL group (p = 0.236, p = 0.293, respectively). While there was no statistically significant difference in postoperative IOP between the two groups (p = 0.223), a statistically significant decrease in IOP was observed in both groups (p < 0.001). While there was no statistical difference between the sutureless SFIOL group and the RPIOL group in terms of spherical value (p = 0.441) and spherical equivalence (p = 0.237), there was a statistically significant difference in cylindrical value (p < 0.001). While there was a statistical difference in anterior astigmatism (p < 0.001), there was no statistical difference in posterior astigmatism (p = 0.405). There was no statistical difference in terms of ACV, ACD, and ACA between the sutureless SFIOL and the RPIOL group (p = 0.812, p = 0.770, p = 0.401, respectively). CONCLUSION: In this study, although there was a statistical difference in cylindrical value and anterior corneal astigmatism between the sutureless SFIOL and RPIOL groups, vision was not affected. According to this study, sutureless SFIOL and RPIOL are two successful methods in terms of visual acuity, anterior segment, and keratometry outcomes in aphakic patients after phacoemulsification.


Asunto(s)
Topografía de la Córnea , Iris , Implantación de Lentes Intraoculares , Esclerótica , Procedimientos Quirúrgicos sin Sutura , Agudeza Visual , Humanos , Masculino , Femenino , Esclerótica/cirugía , Implantación de Lentes Intraoculares/métodos , Persona de Mediana Edad , Anciano , Iris/cirugía , Procedimientos Quirúrgicos sin Sutura/métodos , Lentes Intraoculares , Estudios Retrospectivos , Segmento Anterior del Ojo/diagnóstico por imagen , Segmento Anterior del Ojo/cirugía , Adulto , Resultado del Tratamiento , Diseño de Prótesis , Afaquia Poscatarata/cirugía , Afaquia Poscatarata/fisiopatología , Estudios de Seguimiento , Afaquia/cirugía , Afaquia/fisiopatología , Afaquia/diagnóstico
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