RESUMEN
PURPOSE: The aim of the study was to compare anatomical and functional outcomes of pars plana vitrectomy (PPV) with epiretinal membrane (ERM) peeling in diabetes retinopathy patients with and without diabetic macular edema (DME). METHODS: A retrospective interventional case series of consecutive patients who underwent PPV with ERM peeling. Patients were divided into two groups: those with and without preoperative DME. Visual acuity (VA) and optical coherence tomography parameters were evaluated before surgery and during 12 months of follow-up. RESULTS: A total of 354 patients underwent PPV with ERM peeling, of which 51 met the inclusion criteria. Twenty-three were diagnosed with DME and were younger (66.3 ± 9.6 vs. 73.1 ± 8.2 years, p = 0.001), had longer diabetes mellitus (DM) duration (18.9 ± 7.1 vs. 14.3 ± 10.9 years, p = 0.04) and higher HbA1C% (7.6 ± 1.4 vs. 7.1 ± 1.3, p = 0.04). VA improved from 20/105 to 20/60 Snellen (p = 0.004) and central macular thickness decreased from 469.3 ± 64.9 µm to 331.1 ± 92.2 µm (p < 0.001) in the DME group and from 20/87 to 20/44 Snellen (p < 0.001) and from 463.1 ± 53.5 µm to 341.3 ± 49.5 µm (p = 0.01) in the non-DME group. Yearly intravitreal injection rate decreased from 5.9 ± 2.5 to 2.9 ± 3.0 (p < 0.001) injections in the DME group. CONCLUSIONS: DME patients with ERM experience significant improvement in VA, macular thickness, and yearly intravitreal injections after PPV with ERM peeling. DME patients are younger, with longer duration of DM and higher HbA1C% levels at presentation in comparison to diabetic ERM patients without DME.
Asunto(s)
Diabetes Mellitus , Retinopatía Diabética , Membrana Epirretinal , Edema Macular , Humanos , Edema Macular/diagnóstico , Edema Macular/etiología , Edema Macular/cirugía , Retinopatía Diabética/complicaciones , Retinopatía Diabética/diagnóstico , Retinopatía Diabética/cirugía , Membrana Epirretinal/complicaciones , Membrana Epirretinal/diagnóstico , Membrana Epirretinal/cirugía , Estudios Retrospectivos , Hemoglobina Glucada , Vitrectomía/métodos , Tomografía de Coherencia Óptica , Diabetes Mellitus/cirugíaRESUMEN
Trisomy 22 is the third most common autosomal trisomy occurring in about 0.4% of all clinically recognized pregnancies. Complete non-mosaic trisomy 22 is extremely rare in live births. Most affected children die before one year of age. To date, only 29 liveborn cases have been reported and none has carried an additional genetic lesion. In this report, we describe the clinical presentation, cytogenetic, and cytogenomic findings in a liveborn female with complete non-mosaic trisomy 22 as well as a paternally inherited, balanced reciprocal chromosomal rearrangement t(4;6)(q33;q23.3). The proband manifested features commonly seen in individuals with non-mosaic trisomy 22 such as intrauterine growth retardation (IUGR), single umbilical artery, cranial abnormalities, short neck, cleft lip and palate, dysmorphic ears, hypoplastic nipples, digital malformation, congenital heart defects, dysplastic kidneys, and genital anomalies. In addition, she had lobar holoprosencephaly, aqueductal stenosis, and limb and eye problems that have not been associated with complete trisomy 22 in previous reports. She died at 35 days of age of complex heart disease and renal failure. We are hereby expanding the cytogenetic and clinical spectrum of this rare chromosome disorder. Clinical features of liveborn children with non-mosaic trisomy 22 are reviewed and compared to those in our proband. The impact of genomic content in relation to the survival of trisomies in humans is also discussed.