Partial SHOX duplications associated with various cases of congenital uterovaginal aplasia (MRKH syndrome): A tangible evidence but a puzzling mechanism
Published on: 24th March, 2021
OCLC Number/Unique Identifier: 9272364196
The Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is the most severe form of congenital malformation of the inner female reproductive tract. It is diagnosed as such when the uterus, the upper vagina and optionally the Fallopian tubes are absent. It accounts for approximately 1 in 5000 live-born females and has been classified in two subtypes: type 1 in the presence of isolated uterovaginal aplasia and type 2 when associated in various combinations with extragenital malformations of the kidneys, skeleton, heart and auditory system. Most cases of MRKH syndrome are sporadic, although a significant number of many familial cases have been reported to date. Despite numerous studies, the genetics of the syndrome remains largely unknown and appears to be heterogeneous: chromosomal abnormalities and some candidate gene variants appear to be associated with a few cases; others have been suggested but not yet confirmed. To date, mainly the GREB1L gene appears to be a serious candidate. Among the remaining hypotheses, the controversial contribution of partial duplications of the SHOX gene is still puzzling, as the deficiency of this gene is a major cause of skeletal adysplasia syndromes. We have attempted to resolve this controversy in a study of 60 MRKH cases. Our results tend to show that SHOX duplications can be the origin of a genetic mechanism responsible for MRKH syndrome.
Influence of corneal spherical aberration, anterior chamber depth, and ocular axial length on the visual outcome with an extended depth of focus wavefront-designed intraocular lens
Published on: 8th August, 2022
Purpose: The purpose of the study was to evaluate which ocular parameters have an impact on visual results obtained after an extended depth of focus (EDF) wavefront-designed intraocular lens (IOL). Setting: The study was conducted in three Italian centers (private practice in Lucca and two ambulatory surgical centers in Pisa and in Rome) from 01/09/2014 to 30/09/2015.Design: The study population included 178 eyes of 91 patients who had cataract surgery and implantation of an EDF wavefront - designed IOL (Mini Well Ready - SIFI Med Tech S.r.l.).Methods: Preoperative and postoperative refractive corneal spherical aberration (SA), ocular axial length, or anterior chamber depth were measured.Results: The majority of patients were spectacle-independent for near, intermediate, and distance vision and no one reported disturbing halos or glare. No overall significant differences were observed when stratifying anterior chamber depth (ACD) and ocular axial length (AL) by uncorrected distance visual acuity (UCDVA); p = 0.465 and 1.000 respectively, corrected distance visual acuity (CDVA); p = uncorrected near visual acuity (UCNVA); p = 1.000 and 0.728 respectively; p = 1.000 under both parameters and halos; 1.000 under both parameters. Still, there was a statistically significant difference when stratifying SA with 5 mm only by UDVA (p = 0.040).Conclusion: These results are consistent with similar outcomes in the scientific literature as measured with tests of visual acuity, either with or without optical correction. We also demonstrated that these IOLs can be used in myopic and hyperopic eyes, although it may be useful to evaluate the preoperative corneal SA to achieve better results.
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