Dolgoročni potek in izid bolezni pri bolnikih z intermediarnim uveitisom s spremljanjem vsaj 20 let

Izhodišča: Intermediarni uveitis (IU) je kronična vnetna očesna bolezen z glavnino vnetja v steklovini. Gre za redko bolezen s kroničnim potekom, ki prizadene predvsem delovno aktivno populacijo in lahko povzroči začasno ali trajno izgubo vida. Namen naše študije je preučiti dolgoročni potek IU pri bolnikih z vsaj 20-letnim spremljanjem. Metode: Gre za retrospektivno presečno študijo dolgoročnega poteka IU pri bolnikih z vsaj 20-letnim spremljanjem. V študijo so bili vključeni vsi bolniki z IU z začetkom spremljanja v uveitični ambulanti Očesne klinike med letoma 1985 in 1995. Študija je zastavljena kot nadaljevanje že objavljene študije Vidovič Valentinčič in sodelavcev z 10-letnim spremljanjem iste kohorte bolnikov. Rezultati: Iz začetne kohorte 29 bolnikov z IU smo 20 bolnikov spremljali vsaj 20 let s povprečnim časom spremljanja 25,3 let (95% IZ 23,2–27,4). Po 20 ali več letih spremljanja je remisijo doseglo 17/20 bolnikov s povprečnim časom do remisije 11,14 let (95% IZ 7,94– 14,34). Do ponovnega zagona bolezni je po povprečno 8,2 letih (95% IZ 2,8–13,6) prišlo pri 6/17 bolnikov z remisijo. Odstotek slepih in slabovidnih oči je postopoma naraščal do 10 let, nato pa se je stabiliziral. Po 20 ali več letih je bilo slepih ali slabovidnih 28,2 % oči. Glavni vzrok za izgubo vida je bil cistoidni makularni edem (CME) z razvojem makularne atrofije. Zaključek: IU je kronična bolezen z dolgotrajnim potekom, pogostimi zapleti, ki lahko povzročijo trajno izgubo vida, in ponovnimi zagoni, zaradi česar je potrebno dolgoročno 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 cone–rod or rod–cone 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 291.18 μm 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 −0.75 dB (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