RESUMO
Obesity-related ciliopathies, as a group of ciliopathies including Alström Syndrome and Bardet-Biedl Syndrome, exhibit distinct genetic and phenotypic variability. The understanding of these diseases is highly significant for understanding the functions of primary cilia in the human body, particularly regarding the relationship between obesity and primary cilia. The diagnosis of these diseases primarily relies on clinical presentation and genetic testing. However, there is a significant lack of research on biomarkers to elucidate the variability in clinical manifestations, disease progression, prognosis, and treatment responses. Through an extensive literature review, the paper focuses on obesity-related ciliopathies, reviewing the advancements in the field and highlighting the potential roles of biomarkers in the clinical presentation, diagnosis, and prognosis of these diseases.
Assuntos
Síndrome de Bardet-Biedl , Biomarcadores , Ciliopatias , Obesidade , Humanos , Obesidade/metabolismo , Obesidade/genética , Ciliopatias/genética , Ciliopatias/metabolismo , Síndrome de Bardet-Biedl/genética , Síndrome de Bardet-Biedl/metabolismo , Cílios/metabolismo , Cílios/patologia , Síndrome de Alstrom/genética , Síndrome de Alstrom/metabolismo , AnimaisRESUMO
PURPOSE: To evaluate the performance of intraocular lens (IOL) calculation formulas and the effect of anterior chamber depth (ACD), axial length (AL) and lens thickness (LT) on the prediction accuracy in shallow ACD eyes. METHODS: This retrospective, consecutive case-series study included 648 eyes of 648 patients with an ACD < 3.0 mm who underwent phacoemulsification and IOL implantation. Eleven formulas were evaluated: Barrett Universal II (BUII), Emmetropia Verifying Optical (EVO) 2.0, Hill-Radial Basis Function (RBF) 3.0, Hoffer QST, Kane, Olsen, Pearl-DGS and traditional formulas (Haigis, Hoffer Q, Holladay 1 and SRK/T). Subgroup analysis was performed based on ACD, AL and LT. RESULTS: Overall, the Hoffer QST and Kane showed no systematic bias. The Kane, EVO 2.0, Hill-RBF 3.0 and Hoffer QST had relatively lower mean absolute error and higher percentages of prediction error within ±0.5 D. For the ACD of 2.5-3.0 mm and AL < 22.0 mm subgroup, the Pearl-DGS exhibited the lowest MAE (0.45 D) and MedAE (0.41 D). Most formulas had a significant myopic bias (-0.43 to -0.18 D, p < 0.05) in the LT < 4.3 mm subgroup and a significant hyperopic bias (0.09-0.29 D, p < 0.05) in the LT ≥ 5.1 mm subgroup. CONCLUSION: The Kane and Hoffer QST were recommended for shallow ACD eyes. In eyes with an ACD between 2.5 and 3.0 mm and a short AL, the Pearl-DGS showed excellent performance. Clinicians need to fine-tune the target refraction according to LT in shallow ACD eyes.