5 research outputs found
DolgoroÄni potek in izid bolezni pri bolnikih z intermediarnim uveitisom s spremljanjem vsaj 20 let
IzhodiÅ”Äa: Intermediarni uveitis (IU) je kroniÄna vnetna oÄesna bolezen z glavnino vnetja v steklovini. Gre za redko bolezen s kroniÄnim potekom, ki prizadene predvsem delovno aktivno populacijo in lahko povzroÄi zaÄasno ali trajno izgubo vida. Namen naÅ”e Å”tudije je preuÄiti dolgoroÄni potek IU pri bolnikih z vsaj 20-letnim spremljanjem.
Metode: Gre za retrospektivno preseÄno Å”tudijo dolgoroÄnega poteka IU pri bolnikih z vsaj 20-letnim spremljanjem. V Å”tudijo so bili vkljuÄeni vsi bolniki z IU z zaÄetkom spremljanja v uveitiÄni ambulanti OÄesne klinike med letoma 1985 in 1995. Å tudija je zastavljena kot nadaljevanje že objavljene Å”tudije VidoviÄ ValentinÄiÄ in sodelavcev z 10-letnim spremljanjem iste kohorte bolnikov.
Rezultati: Iz zaÄetne kohorte 29 bolnikov z IU smo 20 bolnikov spremljali vsaj 20 let s povpreÄnim Äasom spremljanja 25,3 let (95% IZ 23,2ā27,4). Po 20 ali veÄ letih spremljanja je remisijo doseglo 17/20 bolnikov s povpreÄnim Äasom do remisije 11,14 let (95% IZ 7,94ā 14,34). Do ponovnega zagona bolezni je po povpreÄno 8,2 letih (95% IZ 2,8ā13,6) priÅ”lo pri 6/17 bolnikov z remisijo. Odstotek slepih in slabovidnih oÄi je postopoma naraÅ”Äal do 10 let, nato pa se je stabiliziral. Po 20 ali veÄ letih je bilo slepih ali slabovidnih 28,2 % oÄi. Glavni vzrok za izgubo vida je bil cistoidni makularni edem (CME) z razvojem makularne atrofije.
ZakljuÄek: IU je kroniÄna bolezen z dolgotrajnim potekom, pogostimi zapleti, ki lahko povzroÄijo trajno izgubo vida, in ponovnimi zagoni, zaradi Äesar je potrebno dolgoroÄno vodenje bolnikov z IU, zgodnje diagnosticiranje in intenzivno zdravljenje CME
The Clinical Spectrum and Disease Course of DRAM2 Retinopathy
Pathogenic variants in DNA-damage regulated autophagy modulator 2 gene (DRAM2) cause a rare autosomal recessive retinal dystrophy and its disease course is not well understood. We present two Slovenian patients harboring a novel DRAM2 variant and a detailed review of all 23 other patients described to date. Whole exome and whole genome sequencing were performed in the two patients, and both underwent ophthalmological examination with a 2-year follow-up. PubMed was searched for papers with clinical descriptions of DRAM2 retinopathy. Patient 1 was homozygous for a novel variant, p.Met1?, and presented with the acute onset of photopsia and retina-wide retinopathy at the age of 35 years. The patient was first thought to have an autoimmune retinopathy and was treated with mycophenolate mofetil, which provided some symptomatic relief. Patient 2 was compound heterozygous for p.Met1? and p.Leu246Pro and presented with late-onset maculopathy at the age of 59 years. On review, patients with DRAM2 retinopathy usually present in the third decade with central visual loss, outer retinal layer loss on optical coherence tomography and a hyperautofluorescent ring on fundus autofluorescence. Either coneārod or rodācone dystrophy phenotype is observed on electroretinography, reflecting the importance of DRAM2 in both photoreceptor types. Non-null variants can result in milder disease
The clinical spectrum and disease course of DRAM2 retinopathy
Pathogenic variants in DNA-damage regulated autophagy modulator 2 gene (DRAM2) cause a rare autosomal recessive retinal dystrophy and its disease course is not well understood. We present two Slovenian patients harboring a novel DRAM2 variant and a detailed review of all 23 other patients described to date. Whole exome and whole genome sequencing were performed in the two patients, and both underwent ophthalmological examination with a 2-year follow-up. PubMed was searched for papers with clinical descriptions of DRAM2 retinopathy. Patient 1 was homozygous for a novel variant, p.Met1?, and presented with the acute onset of photopsia and retina-wide retinopathy at the age of 35 years. The patient was first thought to have an autoimmune retinopathy and was treated with mycophenolate mofetil, which provided some symptomatic relief. Patient 2 was compound heterozygous for p.Met1? and p.Leu246Pro and presented with late-onset maculopathy at the age of 59 years. On review, patients with DRAM2 retinopathy usually present in the third decade with central visual loss, outer retinal layer loss on optical coherence tomography and a hyperautofluorescent ring on fundus autofluorescence. Either coneārod or rodācone dystrophy phenotype is observed on electroretinography, reflecting the importance of DRAM2 in both photoreceptor types. Non-null variants can result in milder disease
Visual Acuity, Retinal Sensitivity, and Macular Thickness Changes in Diabetic Patients without Diabetic Retinopathy after Cataract Surgery
Aim. Functional and morphological macular study after cataract surgery in a group of diabetics without diabetic retinopathy compared to nondiabetics to evaluate the effect of surgical oxidative stress on diabetic retina. Methods. Prospective, comparative study. Preoperative eye exam, best corrected visual acuity (BCVA) measured by ETDRS letters, and optical coherence tomography (OCT) were followed by standard cataract surgery. The follow-up visits at 1, 3, and 6 months postoperatively included BCVA, OCT, and microperimetry, to analyze changes within and between the groups. Results. The BCVA improved significantly in diabetics and controls: 64.2 to 81.0 and 61.9 to 82.1 ETDRS at 6 months, respectively. The central macula at OCT significantly thickened in both groups, while the central 5 fields, corresponding to the microperimetry area, subclinically thickened from 284.20 to 291.18āĪ¼m at 6 months only in diabetics (p=0.026). A matching slight decrease in the microperimetry sensitivity from 1 to 6 months was found also only in diabetics, with mean average difference ā0.75ādB (p=0.04). Conclusion. Underlying diabetes does not influence the surgical outcome in diabetics without diabetic retinopathy. However, slight thickening of wider macula and corresponding decrease in retinal sensitivity observed in diabetics 6 months postoperatively might influence visual function on long term