Literature DB >> 35508675

Evaluation of subclinical ocular involvement in patients with deficiency of adenosine deaminase 2 (DADA2).

Tuğba Kurumoğlu İncekalan1, Rabia Miray Kışla Ekinci2, Göksu Hande Naz Şimdivar3, Neşe Çetin Doğan3, Emine Çiloğlu3.   

Abstract

PURPOSE: To evaluate changes in the peripapillary, macular, and choroidal microvasculature in the eyes of patients with deficiency of adenosine deaminase 2 (DADA2) and no clinical signs of ocular involvement.
METHODS: The study included 12 eyes of 12 patients with DADA2 and 24 eyes of 24 healthy subjects. The foveal avascular zone (FAZ), macular vessel densities (VDs) in the superficial and deep retinal capillary plexuses, peripapillary VDs, and choroidal thickness were evaluated by optical coherence tomography angiography (OCTA). Measurements were compared between DADA2 patients and healthy controls.
RESULTS: The median age was 17 (8-25) years in DADA2 patients and 17.5 (7-23) years in control group at the OCTA visit (p = 0.934). FAZ area did not differ between the groups (p = 0.224). In the superficial capillary plexus, whole-image, foveal, and parafoveal VD values were slightly lower in DADA2 patients than in controls (p = 0.054, p = 0.052, p = 0.117). In the deep capillary plexus, whole-image and parafoveal VD values were significantly lower in DADA2 patients than controls (p = 0.010, p = 0.001). VD in the radial peripapillary capillary plexus was also lower in DADA2 patients, with significantly lower peripapillary VD (p = 0.002). Subfoveal choroidal thickness was significantly higher in patients with DADA2 (p < 0.001).
CONCLUSIONS: This OCTA study demonstrates that both retinal and choroidal involvement may occur in DADA2 patients before the emergence of evident clinical findings.
© 2022. The Author(s), under exclusive licence to International League of Associations for Rheumatology (ILAR).

Entities:  

Keywords:  Choroidal thickness; Deficiency of adenosine deaminase 2; Optical coherence tomography angiography; Peripapillary capillary vessel density; Vascular involvement

Mesh:

Substances:

Year:  2022        PMID: 35508675     DOI: 10.1007/s10067-022-06194-z

Source DB:  PubMed          Journal:  Clin Rheumatol        ISSN: 0770-3198            Impact factor:   3.650


  23 in total

1.  A Case Series of Adenosine Deaminase 2-deficient Patients Emphasizing Treatment and Genotype-phenotype Correlations.

Authors:  Ezgi Deniz Batu; Omer Karadag; Ekim Zihni Taskiran; Umut Kalyoncu; Ivona Aksentijevich; Mehmet Alikasifoglu; Seza Özen
Journal:  J Rheumatol       Date:  2015-08       Impact factor: 4.666

2.  Enhanced depth imaging optical coherence tomography findings in Behçet disease.

Authors:  Erol Coskun; Bulent Gurler; Yavuz Pehlivan; Bunyamin Kisacik; Seydi Okumus; Ramazan Yayuspayı; Eyup Ozcan; A Mesut Onat
Journal:  Ocul Immunol Inflamm       Date:  2013-07-29       Impact factor: 3.070

3.  Assessment of superficial and deep retinal vessel density in systemic lupus erythematosus patients using optical coherence tomography angiography.

Authors:  Shaimaa A Arfeen; Nermeen Bahgat; Nehal Adel; Mervat Eissa; Mohamed M Khafagy
Journal:  Graefes Arch Clin Exp Ophthalmol       Date:  2020-03-11       Impact factor: 3.117

4.  Early-onset stroke and vasculopathy associated with mutations in ADA2.

Authors:  Qing Zhou; Dan Yang; Amanda K Ombrello; Andrey V Zavialov; Camilo Toro; Anton V Zavialov; Deborah L Stone; Jae Jin Chae; Sergio D Rosenzweig; Kevin Bishop; Karyl S Barron; Hye Sun Kuehn; Patrycja Hoffmann; Alejandra Negro; Wanxia L Tsai; Edward W Cowen; Wuhong Pei; Joshua D Milner; Christopher Silvin; Theo Heller; David T Chin; Nicholas J Patronas; John S Barber; Chyi-Chia R Lee; Geryl M Wood; Alexander Ling; Susan J Kelly; David E Kleiner; James C Mullikin; Nancy J Ganson; Heidi H Kong; Sophie Hambleton; Fabio Candotti; Martha M Quezado; Katherine R Calvo; Hawwa Alao; Beverly K Barham; Anne Jones; James F Meschia; Bradford B Worrall; Scott E Kasner; Stephen S Rich; Raphaela Goldbach-Mansky; Mario Abinun; Elizabeth Chalom; Alisa C Gotte; Marilynn Punaro; Virginia Pascual; James W Verbsky; Troy R Torgerson; Nora G Singer; Timothy R Gershon; Seza Ozen; Omer Karadag; Thomas A Fleisher; Elaine F Remmers; Shawn M Burgess; Susan L Moir; Massimo Gadina; Raman Sood; Michael S Hershfield; Manfred Boehm; Daniel L Kastner; Ivona Aksentijevich
Journal:  N Engl J Med       Date:  2014-02-19       Impact factor: 91.245

5.  Dermatologic Features of ADA2 Deficiency in Cutaneous Polyarteritis Nodosa.

Authors:  Tania M Gonzalez Santiago; Andrey Zavialov; Janna Saarela; Mikko Seppanen; Ann M Reed; Roshini S Abraham; Lawrence E Gibson
Journal:  JAMA Dermatol       Date:  2015-11       Impact factor: 10.282

6.  Clinical, imaging and genotypical features of three deceased and five surviving cases with ADA2 deficiency.

Authors:  Sezgin Sahin; Amra Adrovic; Kenan Barut; Serdal Ugurlu; Eda Tahir Turanli; Huri Ozdogan; Ozgur Kasapcopur
Journal:  Rheumatol Int       Date:  2017-05-17       Impact factor: 2.631

7.  Mutant adenosine deaminase 2 in a polyarteritis nodosa vasculopathy.

Authors:  Paulina Navon Elkan; Sarah B Pierce; Reeval Segel; Tom Walsh; Judith Barash; Shai Padeh; Abraham Zlotogorski; Yackov Berkun; Joseph J Press; Masha Mukamel; Isabel Voth; Philip J Hashkes; Liora Harel; Vered Hoffer; Eduard Ling; Fatos Yalcinkaya; Ozgur Kasapcopur; Ming K Lee; Rachel E Klevit; Paul Renbaum; Ariella Weinberg-Shukron; Elif F Sener; Barbara Schormair; Sharon Zeligson; Dina Marek-Yagel; Tim M Strom; Mordechai Shohat; Amihood Singer; Alan Rubinow; Elon Pras; Juliane Winkelmann; Mustafa Tekin; Yair Anikster; Mary-Claire King; Ephrat Levy-Lahad
Journal:  N Engl J Med       Date:  2014-02-19       Impact factor: 91.245

8.  Thinning of Choroidal Thickness in Patients with Rheumatoid Arthritis Unrelated to Disease Activity.

Authors:  Necati Duru; Hasan Altinkaynak; Şükran Erten; Mehmet Erol Can; Zeynep Duru; Fatma Gülçin Uğurlu; Nurullah Çağıl
Journal:  Ocul Immunol Inflamm       Date:  2015-07-31       Impact factor: 3.070

9.  OCT Angiography: Measurement of Retinal Macular Microvasculature with Spectralis II OCT Angiography - Reliability and Reproducibility.

Authors:  Sami Hosari; Bettina Hohberger; Luisa Theelke; Hasan Sari; Marianna Lucio; Christian Y Mardin
Journal:  Ophthalmologica       Date:  2019-09-11       Impact factor: 3.250

Review 10.  Deficiency of Adenosine Deaminase 2 (DADA2): Updates on the Phenotype, Genetics, Pathogenesis, and Treatment.

Authors:  Isabelle Meyts; Ivona Aksentijevich
Journal:  J Clin Immunol       Date:  2018-06-27       Impact factor: 8.317

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