Revesz Debuse syndrome

Bilateral Coats retinopathy associated with aplastic anaemia and mild dyskeratotic signs

Also Known As:

Exudative retinopathy with bone marrow failure; Revesz Syndrome

Networked: 7 relevant articles (0 outcomes, 0 trials/studies)

Disease Context: Research Results

Musculoskeletal Diseases: 719
- Bone Diseases: 5863
  - Metabolic Bone Diseases: 6245
    - Revesz Debuse syndrome: 7
Nutritional and Metabolic Diseases: 15
- Metabolic Diseases: 10142
  - Metabolic Bone Diseases: 6245
    - Revesz Debuse syndrome: 7
Hemic and Immune Systems
- Immune System
  - Bone Marrow
    - Revesz Debuse syndrome: 7
Sense Organs
- Eye
  - Retina
    - Revesz Debuse syndrome: 7

Related Diseases

1.	Dyskeratosis Congenita (X-Linked Dyskeratosis Congenita)
2.	Hoyeraal Hreidarsson syndrome
3.	Retinal Detachment (Retinal Detachments)
4.	Cytopenia

Experts

1.	Date, Hiroshi: 1 article (12/2021)
2.	Handa, Tomohiro: 1 article (12/2021)
3.	Nagata, Shunichi: 1 article (12/2021)
4.	Nakajima, Daisuke: 1 article (12/2021)
5.	Ohsumi, Akihiro: 1 article (12/2021)
6.	Tanizawa, Kiminobu: 1 article (12/2021)
7.	Yamanashi, Keiji: 1 article (12/2021)
8.	Yoshizawa, Akihiko: 1 article (12/2021)
9.	Asano, Mamika: 1 article (09/2021)
10.	Kondo, Hiroyuki: 1 article (09/2021)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Revesz Debuse syndrome:

1.	Retinaldehyde (Retinal)IBA 09/01/2021 - "There are only a few publications describing patients with Revesz syndrome who underwent ocular treatments for the retinal complications. " 01/01/2017 - "We report ophthalmic findings in twins with Revesz syndrome due to a previously unreported mutation in TINF2 and propose that phenotypic and molecular overlaps between DKC spectrum disorders and pediatric retinal vasculopathies may reflect a shared pathophysiologic basis." 01/01/2017 - "Retinal findings and a novel TINF2 mutation in Revesz syndrome: Clinical and molecular correlations with pediatric retinal vasculopathies." 01/01/2017 - "We report the ophthalmologic findings, documented by examinations under anesthesia with clinical photography and fluorescein angiography, as well as the systemic manifestations and genetic and molecular testing, in identical twins with Revesz syndrome, and compare and contrast these features to those of other pediatric retinal vasculopathies. "
2.	tert-butylserineIBA 01/01/2021 - "Different degrees of severity are also observed among patients with TBDs, ranging from very severe syndromes manifesting themselves in early childhood, such as Revesz syndrome, Hoyeraal-Hreidarsson syndrome, and Coats plus disease, to dyskeratosis congenita (DKC) and adult-onset "cryptic" forms of TBD, which often affect fewer organ systems. " 12/01/2019 - "Forty-four participants with TBDs (31 dyskeratosis congenita, 12 Hoyeraal-Hreidarsson syndrome, and 1 Revesz syndrome) enrolled in an institutional review board-approved longitudinal cohort study underwent detailed clinical assessments, brain MRI, and genetic testing. "
3.	Fluorescein (Funduscein)FDA LinkGeneric 01/01/2017 - "We report the ophthalmologic findings, documented by examinations under anesthesia with clinical photography and fluorescein angiography, as well as the systemic manifestations and genetic and molecular testing, in identical twins with Revesz syndrome, and compare and contrast these features to those of other pediatric retinal vasculopathies. "
4.	Shelterin ComplexIBA 03/09/2012 - "The pathogenesis of CRMCC is unknown, but its phenotype has key similarities with Revesz syndrome, which is caused by mutations in TINF2, a gene encoding a member of the telomere protecting shelterin complex. "

Therapies and Procedures

1.	Hematopoietic Stem Cell Transplantation 01/01/2019 - "Unrelated allogeneic hematopoietic stem cell transplantation in a patient with Revesz syndrome, a severe variant of dyskeratosis congenita."
2.	Bone Marrow Transplantation (Transplantation, Bone Marrow) 12/01/2021 - "In the second case, a 3-year-old girl with Revesz syndrome underwent bone marrow transplantation for refractory cytopenia. "
3.	Vitrectomy 09/01/2021 - "Pars plana vitrectomy can effectively treat the extensive retinal detachment in an eye with Revesz syndrome. " 09/01/2021 - "We report a Case of Revesz syndrome with bilateral retinal detachments that were successfully reattached by pars plana vitrectomy. " 09/01/2021 - "Revesz syndrome with bilateral retinal detachments successfully treated by pars plana vitrectomy."
4.	Anesthesia 01/01/2017 - "We report the ophthalmologic findings, documented by examinations under anesthesia with clinical photography and fluorescein angiography, as well as the systemic manifestations and genetic and molecular testing, in identical twins with Revesz syndrome, and compare and contrast these features to those of other pediatric retinal vasculopathies. "