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1.
Ophthalmology ; 2024 Jul 19.
Artigo em Inglês | MEDLINE | ID: mdl-39033857

RESUMO

PURPOSE: To compare the associations of race/ethnicity and socioeconomic status (SES) with visual impairment (VI) prior to surgical removal of cataracts across two large health systems in the U.S. Mid-Atlantic region. DESIGN: Multi-institutional cross-sectional data study. PARTICIPANTS: Patients aged 65 and older who underwent cataract surgery at Johns Hopkins Hospital (JHH) and Kaiser Permanente (KP) between January 1, 2017 and December 31, 2019. METHODS: Covariates included patient age, sex, smoking status, surgery laterality, Charlson Comorbidity Index (CCI), and ocular comorbidities. Multivariable generalized estimating equation models were used to examine the association of race/ethnicity and area deprivation index (ADI) with visual acuity. MAIN OUTCOME MEASURES: Visual acuity prior to cataract surgery was assessed using Log of Minimum Angle of Resolution (logMAR). Race/ethnicity and ADI were the main exposures of interest. RESULTS: At JHH, 11,509 patients (17,731 eyes) were included, while KP had 7,143 patients (10,542 eyes). After adjusting for covariates, Black (ß, 0.49), Asian (ß, 0.83), and Hispanic patients (ß, 0.95) were more likely to have worse visual acuity secondary to cataracts at JHH (P < 0.001 for all) compared to White patients. Similarly, at KP, Black (ß, 0.56), Asian (ß, 0.70), and Hispanic patients (ß, 0.89) were more likely to have worse visual acuity (P < 0.001 for all) compared to White patients. Compared to those living in the least disadvantaged neighborhoods (Quartile [Q]1 ADI) at JHH, higher ADI quartiles (more deprived) were more likely to have worse visual acuity (ß, 0.27; P = 0.001 for Q2, ß, 0.40; P = 0.001 for Q3, ß, 0.95; P < 0.001 for Q4). There was no significant association found between ADI and VI secondary to cataracts at KP. CONCLUSIONS: Among older adults, non-White race/ethnicity was independently associated with VI secondary to cataracts in two large health systems in the U.S. Mid-Atlantic region, after adjustment for ADI. Area deprivation was also associated with VI but only in the JHH system. Our study suggests that non-White patients and those with lower SES are at greater risk of VI secondary to cataracts possibly due to social, structural and institutional barriers.

2.
Int Ophthalmol ; 44(1): 96, 2024 Feb 19.
Artigo em Inglês | MEDLINE | ID: mdl-38372824

RESUMO

PURPOSE: To assess the refractive accuracy of eight intraocular lens (IOL) formulas in eyes that underwent combined phacovitrectomy. METHODS: A retrospective chart review of 59 eyes that underwent uncomplicated phacovitrectomy between 2017 and 2020 at the Johns Hopkins Wilmer Eye Institute. Inclusion criteria were postoperative best corrected visual acuity of 20/40 or better within 6 months of surgery and IOL implantation in the capsular bag. The Barrett Universal II (BUII), Emmetropia Verifying Optical (EVOv2.0), Hill-Radial Basis Function (Hill-RBFv3.0), Hoffer Q, Holladay I, Kane, Ladas Super Formula (LSF), and SRK/T formulas were compared for accuracy in predicting postoperative spherical equivalents (SE) using Wilcoxon rank sum tests. Pearson's correlation coefficients were used to assess correlations between biometric parameters and errors for all formulas. RESULTS: Prediction errors of SE ranged from - 1.69 to 1.43 diopters (D), mean absolute errors (MAE) ranged from 0.39 to 0.47 D, and median absolute errors (MedAE) ranged from 0.23 to 0.37 D among all formulas. The BUII had the lowest mean error (- 0.043), MAE (0.39) and MedAE (0.23). The BUII also had the highest percentage of eyes with predicted error within ± 0.25 D (51%) and ± 0.50 D (83%). Based on MedAE however, no pairwise comparisons resulted in statistically significant differences. Axial length (AL) was positively correlated with the error from the Hoffer Q and Holladay I formulas (correlation coefficients = 0.34, 0.30, p values < 0.01, 0.02 respectively). CONCLUSION: While all eight IOL formulas had comparable accuracy in predicting refractive outcomes in eyes undergoing combined phacovitrectomy, the BUII and Kane formulas had a tendency to greater accuracy.


Assuntos
Olho Artificial , Lentes Intraoculares , Humanos , Estudos Retrospectivos , Olho , Refração Ocular
3.
BMC Ophthalmol ; 23(1): 74, 2023 Feb 23.
Artigo em Inglês | MEDLINE | ID: mdl-36823593

RESUMO

BACKGROUND: To compare the clinical outcomes of patients undergoing sequential pars plana vitrectomy (PPV) followed by cataract extraction surgery (CE) [PPV/CE], simultaneous PPV and CE (PPV + CE), and sequential CE followed by PPV [CE/PPV]. METHODS: A retrospective observational cohort study of 427 eyes of 404 patients who underwent either sequential or simultaneous PPV and CE surgery between March 2016 and May 2021. Pre-operative and post-operative assessments (up to 2 years of follow-up visits) of uncorrected visual acuity (UCVA), corrected distance visual acuity (CDVA), spherical equivalent (SEQ), and refractive prediction error (RPE) was done. Main outcome measures were both visual (UCVA, CDVA) and refractive (RPE, SEQ). RESULTS: There was a statistically significant difference in CDVA of the PPV/CE, PPV + CE, CE/PPV groups (logMAR 0.34 ± 0.40, 0.65 ± 0.61, and 0.55 ± 0.60, respectively) at one month postoperatively (POM1) (P < 0.001), and at the POM12 visits (logMAR 0.25 ± 0.34, 0.53 ± 0.68, and 0.44 ± 0.48; P = 0.04). In the subgroup analysis of patients with a diagnosis of either epiretinal membrane or vitreous opacities, there was no statistically significant difference in SEQ (P = 0.09) and RPE (P = 0.13) at the combined 1 month and 3 month visits. CONCLUSION: Simultaneous PPV and cataract surgery demonstrated similar improvements in visual acuity and refractive outcomes, as well as comparable intraoperative and postoperative complication profiles to sequential surgery.


Assuntos
Extração de Catarata , Catarata , Humanos , Vitrectomia/efeitos adversos , Estudos Retrospectivos , Corpo Vítreo/cirurgia , Complicações Pós-Operatórias/etiologia , Transtornos da Visão/etiologia , Catarata/complicações
4.
Int Ophthalmol ; 43(1): 285-292, 2023 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-35870049

RESUMO

PURPOSE: To evaluate the association between postoperative intraocular pressure (IOP) reduction and phacoemulsification parameters in patients who underwent both conventional phacoemulsification surgery (CPS) and femtosecond laser-assisted cataract surgery (FLACS). METHODS: This was a prospective multicenter comparative study that enrolled 90 participants who underwent cataract surgery at the University of Maryland Medical System and the Wilmer Eye Institute. Patients underwent FLACS in one eye and CPS in the fellow eye. IOP was measured prior to surgery and monitored through six months postoperatively. Demographic, clinical, biometric, and intraoperative variables including cumulative dissipated energy (CDE), aspiration time, and phacoemulsification time were analyzed for any significant association with postoperative IOP. Postoperative IOP reduction was the primary outcome variable. A secondary goal of the study was to determine differences in postoperative IOP reduction between CPS and FLACS cohorts. RESULTS: In total, 157 non-glaucomatous eyes were included. Using multivariable analysis, we found preoperative IOP to be consistently associated with postoperative IOP reduction in the entire cohort. At the 6-month follow-up visit, there was a 12.4% reduction in IOP (-2.2 ± 3.4 mm Hg) seen, with no statistically significant difference between FLACS and CPS (12.3% ± 19.4% vs 12.5% ± 19.3%, respectively, p = 0.32). FLACS reduced the CDE required for phacoemulsification (6.6 ± 4.4%-seconds vs 8.6 ± 6.9%-seconds, respectively, p < 0.05). CDE was a predictor of IOP response at 6 months, but subgroup analysis revealed that this trend was driven by seven eyes requiring high CDE, and for the majority of eyes, CDE did not influence the size of the decrease. The seven eyes experiencing highest CDE were less likely to show IOP reduction at 6 months. CONCLUSION: Both FLACS and CPS resulted in similar and significant IOP reductions through 6 months after surgery. Preoperative IOP was significantly associated with IOP reduction, and CDE generally did not influence the size of the decrease.


Assuntos
Extração de Catarata , Catarata , Terapia a Laser , Facoemulsificação , Humanos , Facoemulsificação/métodos , Pressão Intraocular , Estudos Prospectivos , Terapia a Laser/métodos , Acuidade Visual , Extração de Catarata/métodos , Lasers
5.
Int Ophthalmol ; 39(7): 1483-1490, 2019 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-29978342

RESUMO

PURPOSE: To study the use of autologous platelet lysate prepared in a standardized method for the healing of persistent corneal epithelial defects (PED). STUDY DESIGN: Clinical and experimental investigation. METHODS: In this prospective pilot study (ClinicalTrials.gov identifier NCT02979912), ten patients with a PED duration of a minimum 14 days were included. Autologous platelet lysate was prepared in a standardized methodology. Repeated freeze-thaw cycles were used to lyse the platelets. Patients were advised to apply the eye drops four times a day and were evaluated at baseline and on days 7, 14, 21, 28. RESULTS: No adverse events were reported due to the use of undiluted autologous platelet lysate. A total of 70% of patients had complete re-epithelialization within 28 days. Of these, 40% healed within 14 days (effective group) and 30% within 28 days (partially effective group). CONCLUSIONS: Undiluted autologous platelet lysate, prepared according to a standardized methodology, is a safe and effective adjunct therapy for the treatment of PED.


Assuntos
Plaquetas , Doenças da Córnea/terapia , Epitélio Corneano/patologia , Reepitelização/fisiologia , Adulto , Idoso , Doenças da Córnea/diagnóstico , Feminino , Seguimentos , Humanos , Masculino , Pessoa de Meia-Idade , Soluções Oftálmicas/administração & dosagem , Projetos Piloto , Estudos Prospectivos , Resultado do Tratamento , Adulto Jovem
6.
Clin Ophthalmol ; 18: 929-935, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38544502

RESUMO

Purpose: To investigate the etiology and demographic associations of patients presenting with eyelid lacerations to a US level 1 trauma center emergency department (ED). Patient and Methods: A retrospective chart review of all patients with eyelid lacerations presenting to the ED at a single level 1 trauma center was performed. Eyelid lacerations were categorized as simple eyelid lacerations, eyelid lacerations with eyelid margin involvement, and eyelid lacerations with nasolacrimal system involvement. Data on demographics and clinical characteristics were analyzed. Results: A total of 303 eyelid laceration cases were identified, 56% were simple eyelid lacerations, followed by 24% with nasolacrimal involvement and 20% involving the eyelid margin. Sixty percent of animal bites/scratches resulted in a nasolacrimal system involving laceration, most commonly affecting children. Falls were the most common etiology in children and patients over the age of 60. Black patients, patients presenting with concomitant ophthalmic injuries, and those with Medicaid insurance were more likely to have an assault etiology (p < 0.05 for all). Conclusion: Falls were the most common etiology for eyelid lacerations in children and the elderly, while assault was the most common in adults. Identifying the most common etiology by demographic factors can help raise awareness regarding targeted prevention strategies for high-risk populations.

7.
J Cataract Refract Surg ; 50(3): 224-229, 2024 Mar 01.
Artigo em Inglês | MEDLINE | ID: mdl-38381616

RESUMO

PURPOSE: To determine current prescribing patterns for topical or intraocular/periocular anti-inflammatory medications (AIMs) after routine cataract surgery. SETTING: kera-net online members. DESIGN: Cross-sectional survey. METHODS: An online survey was distributed to subscribers of kera-net, a global online platform sponsored by the Cornea Society. Questions were asked regarding the use of topical or intraocular/periocular AIM after cataract surgery and types of medications prescribed. RESULTS: Of 217 surgeon respondents (23% response rate), 171 (79%) practiced in the United States and 171 (79%) were cornea subspecialists. Most of the respondents (n = 196, 97%) prescribed topical corticosteroids after routine cataract surgery. The most frequently prescribed were prednisolone acetate (n = 162, 83%), followed by dexamethasone (n = 26, 13%), difluprednate (n = 24, 12%), and loteprednol etabonate (n = 13, 7%). Corticosteroids comprised (n = 40, 32%) of total intraocular/periocular injections, with triamcinolone acetonide 10 or 40 mg (n = 19, 47.5%) most commonly used. 23 surgeons (58%) who utilized intraocular/periocular corticosteroids also prescribed topical corticosteroids. Topical nonsteroidal anti-inflammatory drugs were prescribed postoperatively by 148 surgeons (73%). CONCLUSIONS: Most surgeons prescribed topical AIM after routine cataract surgery. Many surgeons injected intraocular or periocular AIM while prescribing topical AIM. The diversity of practice patterns may reflect the lack of clear evidence-based guidelines.


Assuntos
Anti-Inflamatórios , Catarata , Humanos , Estados Unidos , Estudos Transversais , Anti-Inflamatórios/uso terapêutico , Glucocorticoides/uso terapêutico , Corticosteroides , Inquéritos e Questionários
8.
Clin Ophthalmol ; 17: 1813-1821, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37397954

RESUMO

Purpose: To identify factors related to suboptimal refractive outcomes after toric intraocular lens implantation. Patients and Methods: A retrospective case-control chart review of 446 eyes with toric lens insertion by the same surgeon at a university hospital from 2016 to 2020 was conducted. Pre-operative exam findings, biometry, and one month and three month post-operative vision and refraction were noted. Reviewed charts were considered cases if uncorrected distance visual acuity (UDVA) was worse than 20/40, spherical equivalent (SE) >1 diopter (D) off target, or cylinder >1 D off target. Results: Overall, 93.7% (n = 343) of eyes achieved UDVA of 20/40 or better, 92.7% (n = 306) were within 1 D of target SE, and 90.9% (n = 300) were within 1 D of target cylinder. UDVA cases had more eyes with prior LASIK (21.7% vs 7.0%, p = 0.01) and keratoconus (8.7% vs 0.6%, p < 0.001) than controls. More SE cases had prior radial keratotomy (RK) (8.3% vs 0%, p < 0.001) and keratoconus (12.5% vs 0%, p < 0.001) than controls. More cylinder cases had prior LASIK (30.0% vs 8.7%, p < 0.001) and higher mean astigmatism (2.3 vs 1.5 D, p = 0.02) than controls. More cases in all three analyses had higher toric cylinder power (T5-T9) than controls. Age, sex, eye laterality, axial length, anterior chamber depth, lens power, dry eye, anterior basement membrane dystrophy, and Fuchs' endothelial dystrophy differences were not significant. Conclusion: Prior LASIK or RK, keratoconus, and higher astigmatism may increase the chance of a suboptimal outcome.

9.
Cornea ; 42(10): 1240-1246, 2023 Oct 01.
Artigo em Inglês | MEDLINE | ID: mdl-36538419

RESUMO

PURPOSE: The aim of this study was to compare the outcomes of staged versus combined surgical approach for secondary intraocular lens (IOL) implantation and Descemet stripping endothelial keratoplasty (DSEK). METHODS: This is a retrospective review of 124 eyes from 124 patients who underwent either staged or combined secondary IOL implantation in addition to DSEK over a 5-year period at 2 academic tertiary referral centers, between January 1, 2014, and October 1, 2019. Corrected distance visual acuity (CDVA), presence of graft detachment, primary graft failure (PGF), and cystoid macular edema were documented and analyzed. RESULTS: The CDVA for the 1- to 2- month follow-up period was significantly better in the staged group compared with the combined group ( P = 0.011). By the postoperative 6- to 9-month follow-up period, there was no significant difference in the CDVA between the groups ( P = 0.591). There was no significant difference in the incidence of PGF or graft detachment between the 2 groups ( P > 0.05). In addition, there was no significant difference in the CDVA or rate of postoperative complications between the different methods of IOL fixation. CONCLUSIONS: The short-term visual outcomes were significantly better in eyes that underwent staged secondary IOL implantation and DSEK versus the combined surgical approach, although the difference was no longer present at 6 to 9 months. There was no difference in the rate of PGF or graft detachment between the 2 groups.


Assuntos
Ceratoplastia Endotelial com Remoção da Lâmina Limitante Posterior , Implante de Lente Intraocular , Humanos , Implante de Lente Intraocular/métodos , Ceratoplastia Endotelial com Remoção da Lâmina Limitante Posterior/métodos , Endotélio Corneano , Complicações Pós-Operatórias , Estudos Retrospectivos
10.
Am J Ophthalmol ; 254: 44-53, 2023 10.
Artigo em Inglês | MEDLINE | ID: mdl-36963606

RESUMO

PURPOSE: To investigate the association of social determinants of health (SDOH) factors and cataract-related outcomes disparities. DESIGN: Cross-sectional, with a nationally representative sample. METHODS: We used publicly available data from the 2008, 2016, and 2017 National Health Interview Survey data sets. Outcome measures included self-reported prevalence for ever been diagnosed with cataract, vision loss secondary to cataracts, and the likelihood of undergoing cataract surgery. Survey-weighted, multivariable logistic regression models, adjusted for age, race and ethnicity, and other relevant covariates, were used to examine the association between SDOH factors and cataract-related outcomes. RESULTS: A total of 81,551 participants were included, who were predominantly between 18 and 44 years of age (49.6%), female (51.7%), and White (74.8%). Multivariable regression models with age as a covariate showed that individuals who were not working were more likely to report having cataracts than those who were working (P < .001). Those who needed but could not afford medical care in the past year were more likely to report vision loss secondary to cataracts than their counterparts (P < .001). Uninsured participants were less likely to report undergoing cataract surgery than those with private insurance (P = .03). Individuals with higher income (poverty-income ratio: 1.00-2.99 vs <1.00) were more likely to report undergoing cataract surgery (P = .04). CONCLUSIONS: Several SDOH factors were associated with disparities in rates of cataract-related outcomes. These findings highlight the importance of ophthalmologists screening for social risks in patients with cataract, as these social factors are important barriers for access to care.


Assuntos
Extração de Catarata , Catarata , Humanos , Feminino , Estados Unidos/epidemiologia , Fatores Sociais , Estudos Transversais , Determinantes Sociais da Saúde , Catarata/complicações , Catarata/epidemiologia , Transtornos da Visão/epidemiologia
11.
Am J Ophthalmol Case Rep ; 25: 101288, 2022 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-35112023

RESUMO

PURPOSE: To present two cases of full-thickness corneal lacerations following crab claw injuries. OBSERVATIONS: The first case is a 61-year-old male who presented to the emergency department (ED) with right-eye discharge, pain, and vision loss. Prior to presentation, the patient was with his friends on a fishing trip when one of them caught a crab and threw it to the patient, striking him in the right eye. The crab claw caused a penetrating injury to the cornea, with the patient presenting with a 9.5 mm full-thickness corneal laceration. He underwent emergent corneal laceration repair.Six months post-trauma, because of the sustained injury, the patient developed a traumatic cataract. Cataract removal with an iris-sutured intraocular lens (IOL) was subsequently performed. In subsequent follow-up visits, due to the corneal scarring that developed and IOL decentration, the patient's visual acuity continued to deteriorate. This required a combined penetrating keratoplasty with IOL scleral fixation that was performed approximately three years following his initial injury date. The patient's uncorrected visual acuity (UCVA) was 20/50 and 20/80 at his one-year and two-year post-operative follow-up visits.The second case is a 6-year-old girl who arrived at the ED with left eye conjunctival injection. Two days prior to presentation, the patient was accidently struck by a steamed crab claw while dining with her parents. She sustained a full-thickness corneal laceration injury and was diagnosed with endophthalmitis. She was taken for emergent open globe repair, anterior chamber washout, and injection of intravitreal antibiotics. Fluid taken from the anterior chamber grew Streptococcus viridans on culture.A month later, following the development of a traumatic cataract and posterior synechiae, with the patient's vision decreasing to hand motions in her injured eye, she underwent cataract extraction and IOL implantation with posterior capsulectomy and PPV. Her UCVA was 20/80 and 20/60 at her two-month and four-month visits, respectively, and 20/50 at the four-year post-operative follow-up visit. CONCLUSIONS AND IMPORTANCE: Given the settings in which both injuries occurred, awareness should be raised to handle crabs with safety precautions as they are not inherently viewed as objects that can potentially cause corneal lacerations and subsequent traumatic cataract.

12.
BMC Res Notes ; 12(1): 569, 2019 Sep 11.
Artigo em Inglês | MEDLINE | ID: mdl-31511037

RESUMO

OBJECTIVE: Pediatric ocular trauma represents a major concern for ophthalmologists. Delays in presentation, incomplete exams, inaccurate visual acuity (VA) results, and amblyopia can limit accurately predicting final visual outcomes in pediatric eye trauma. We performed a retrospective clinical study to describe the demographics and causes of eye trauma. We also compared 2 ocular trauma scoring systems, one specifically designed for pediatric trauma, to classify injuries and determine which better predicted VA outcomes. A retrospective chart review of 3 years of pediatric globe trauma was performed. Analysis was focused on mechanisms of injury and VA outcomes. Complex factors that may worsen outcomes were recorded. Ocular trauma score (OTS) and pediatric ocular trauma score (POTS) were used to assign Groups 1-5 to each case. Group 1 was poorest prognosis, Group 5 best. Association between Group and final VA was examined. Accuracy of the two systems was compared. RESULTS: 23 children met eligibility criteria (13 male). Initial VA averaged 20/200 (range no light perception (NLP)-20/20). Final VA was 20/150 (range no light perception (NLP)-20/20). Objects of injury were sharp metallic household objects (7), miscellaneous (4), toys (3), BB pellets (2), stick/wood (2), pencil/pen (1).


Assuntos
Traumatismos Oculares/diagnóstico , Traumatismos Oculares/fisiopatologia , Índices de Gravidade do Trauma , Acuidade Visual/fisiologia , Adolescente , Criança , Pré-Escolar , Traumatismos Oculares/terapia , Feminino , Humanos , Lactente , Masculino , Prognóstico , Estudos Retrospectivos
13.
Am J Ophthalmol Case Rep ; 15: 100483, 2019 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-31245652

RESUMO

PURPOSE: To present the clinical value of femtosecond laser assisted cataract surgery (FLACS) in eyes with compromised zonules. OBSERVATIONS: We present two cases of femtosecond laser assisted cataract surgery (FLACS) in eyes with compromised zonules. Three eyes from two patients with zonular weakness and cataract underwent FLACS (Alcon LenSx Lasers Inc., Aliso Viejo, CA). One patient underwent bilateral FLACS in the setting of spherophakia with zonular weakness. The other patient had Marfan's syndrome with associated ectopia lentis. Laser assisted capsulotomy was achieved in all eyes. One eye had vitreous prolapse during surgery and required an iris-sutured lens. All eyes had a postoperative corrected distance visual acuity of 20/25 or better. CONCLUSIONS AND IMPORTANCE: FLACS is a safe and effective alternative to conventional phacoemulsification cataract surgery in patients with zonular weakness.

14.
Can J Ophthalmol ; 54(1): 51-59, 2019 02.
Artigo em Inglês | MEDLINE | ID: mdl-30851774

RESUMO

OBJECTIVE: To identify the disease-causing variants in 2 families with autosomal recessive inherited retinal dystrophies (IRDs) and to characterize phenotypic variability across the affected family members. DESIGN: Exome sequencing and ophthalmic clinical examination study. PARTICIPANTS: Six members from 2 consanguineous Jordanian families with IRD. METHODS: Ophthalmic examinations and whole-exome sequencing (WES) were performed to identify IRD-causing variants in affected individuals from each family, followed by segregation analysis of candidate variants in affected and unaffected family members by Sanger sequencing. RESULTS: We identified 2 different homozygous deletion variants in CERKL in each family: a novel pathogenic variant, c.450_451delAT, and a known variant, c.1187_1188delTG. Both variants co-segregated with the disease in all affected family members. The resulting phenotypes further supported that CERKL is associated with cone-rod dystrophy (CRD) rather than retinitis pigmentosa (RP), as originally established. CONCLUSION: Our study expands the genotypic spectra of CERKL variants, providing insights into the relevant pathogenesis of RP/CRD. We also confirm that the WES approach is a valuable tool for the molecular diagnosis of retinopathies.


Assuntos
Consanguinidade , DNA/genética , Mutação , Fosfotransferases (Aceptor do Grupo Álcool)/genética , Distrofias Retinianas/genética , Adolescente , Adulto , Análise Mutacional de DNA , Exoma , Feminino , Genótipo , Humanos , Jordânia , Masculino , Pessoa de Meia-Idade , Linhagem , Fenótipo , Fosfotransferases (Aceptor do Grupo Álcool)/metabolismo , Distrofias Retinianas/congênito , Distrofias Retinianas/metabolismo , Adulto Jovem
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