Clinical outcomes of a toric continuous range of vision presbyopia-correcting intraocular lens.

PURPOSE: To evaluate the clinical outcomes of the toric version of a presbyopia-correcting intraocular lens (IOL) based on the combination of a diffractive-based extended depth-of-focus (EDOF) pattern and a diffractive multifocal platform. SETTING: Miranza COI Bilbao, Bilbao, Spain. DESIGN: Prospective case series. METHODS: 35 patients (51 to 84 years) with corneal astigmatism ranging from 0.75 to 2.19 diopters (D) undergoing bilateral cataract surgery with implantation of the Synergy Toric II IOL were evaluated during a 3-month follow-up. Visual acuity, refraction, defocus curve, and patient-reported outcomes with the Catquest-9SF questionnaire were analyzed. A vectorial analysis was used to analyze the accuracy of astigmatic correction. RESULTS: Mean 3-month monocular postoperative uncorrected distance, intermediate (80 cm) and near (40 cm) visual acuities were 0.06 ± 0.11 logMAR, 0.13 ± 0.12 logMAR, and 0.13 ± 0.09 logMAR, respectively. Mean monocular distance-corrected intermediate (80 cm) and near visual acuity (40 cm) were 0.11 ± 0.12 logMAR and 0.10 ± 0.10 logMAR, respectively. Mean binocular defocus curve showed visual acuities of 0.10 logMAR or better for defocus levels from +0.50 to -2.50 D. Residual cylinder was within ±0.50 D in 97.0% of eyes. The surgically induced astigmatism prediction error ranged between -0.49 D and 0.50 D, with a mean value of 0.04 ± 0.16 D. Mean absolute IOL rotation was 3.79 ± 2.94 degrees. Significant improvements were found in all Rasch-calibrated scores obtained with Catquest-9SF ( P < .001). CONCLUSIONS: The implantation of the toric presbyopia-correcting IOL evaluated provides an efficacious astigmatic correction while providing a fully restoration of the visual function across different distances.

[Molecular and clinical characteristics of a family with Alagille syndrome]. / Características clínicas y moleculares de una familia con síndrome de Alagille.

BACKGROUND AND OBJECTIVE: The Alagille syndrome (AS) is characterized by biliary ductopenia and abnormalities of heart, eyes, face, bones, kidneys and brain with a dominant inheritability. Mutations of Jagged 1 gene are observed in individuals with the full syndrome and/or relatives with little or no phenotypic features. Prognosis of patients depends on the hepatic and cardiovascular involvement. PATIENTS AND METHOD: We present the cases of a woman and her 2 male nephews with AS. We performed a molecular study of the Jagged 1 gene in family members with and without the syndrome. RESULTS: The molecular study detected mutations in the position 2785+2 of TAAG (intron 19) of the Jagged 1 gene in 3 relatives with the full syndrome and in 2 other members with a partial syndrome. Other relatives, without mutation, have some of the phenotypic features of it. CONCLUSIONS: We comment on the clinical forms of AS in this family and the detected mutation. Molecular diagnosis allows to make a genetic counsel.

Características clínicas y moleculares de una familia con síndrome de Alagille / Molecular and clinical characteristics of a family with Alagille syndrome

Fundamento y objetivo: El síndrome de Alagille (SA) se caracteriza por ductopenia biliar y anomalías del corazón, ojos, cara, huesos, riñón y cerebro, junto a una herencia dominante. Las mutaciones del gen Jagged 1 se observan en sujetos con el síndrome completo y/o familiares que tienen pocos o ningún rasgo fenotípico del síndrome. El pronóstico de los pacientes depende de la afectación hepática y cardiovascular. Pacientes y método: Se presentan los casos de una mujer y sus 2 sobrinos (varones) con SA. Se realizó estudio molecular del gen Jagged 1 en los miembros de la familia con síndrome y sin él. Resultados: El estudio molecular detectó mutaciones en la posición 2785+2 del TAAG (intrón 19) del gen Jagged 1 en 3 familiares que tienen el síndrome completo y en otros 2 casos con síndrome parcial. Otros familiares, sin mutación, presentan alguno de los rasgos fenotípicos del síndrome. Conclusiones: Se comentan las formas clínicas del SA en esta familia y la mutación encontrada. El diagnóstico molecular permite realizar un consejo genético

Background and objective: The Alagille syndrome (AS) is characterized by biliary ductopenia and abnormalities of heart, eyes, face, bones, kidneys and brain with a dominant inheritability. Mutations of Jagged 1 gene are observed in individuals with the full syndrome and/or relatives with little or no phenotypic features. Prognosis of patients depends on the hepatic and cardiovascular involvement. Patients and method: We present the cases of a woman and her 2 male nephews with AS. We performed a molecular study of the Jagged 1 gene in family members with and without the syndrome. Results: The molecular study detected mutations in the position 2785+2 of TAAG (intron 19) of the Jagged 1 gene in 3 relatives with the full syndrome and in 2 other members with a partial syndrome. Other relatives, without mutation, have some of the phenotypic features of it. Conclusions: We comment on the clinical forms of AS in this family and the detected mutation. Molecular diagnosis allows to make a genetic counsel