Bilateral coats retinopathy associated with aplastic anaemia and mild dyskeratotic signs

Kajtár, P.; Méhes, K

doi:10.1002/ajmg.1320490404

Cited by 59 publications

(31 citation statements)

References 7 publications

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“…Our patient developed retinal detachment, similar to other cases (4,5) . The patient described herein did not present alterations in the anterior segment of the eye, such as megalocornea or buphthalmos.…”

Section: Discussionsupporting

confidence: 90%

“…Progressive bilateral Coats retinopathy has been described by other authors (3,4) , but the hemorrhagic component in this case impaired the visualization of retinal alterations. Our patient developed retinal detachment, similar to other cases (4,5) .…”

Section: Discussionsupporting

confidence: 49%

“…Few patients with Revesz syndrome have been reported, and the clinical features have not been fully delineated. Significant clinical variation exists among patients (1)(2)(3)(4) . This report describes the first brazilian case of Revesz syndrome and its ocular and clinical features.…”

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confidence: 99%

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Revesz syndrome

Issaho¹,

Moreira²,

Ribeiro³

et al. 2015

Revista Brasileira De Oftalmologia

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RESUMO ABSTRACTRevesz syndrome is a rare variant of dyskeratosis congenita and is characterized by bilateral exudative retinopathy, alterations in the anterior ocular segment, intrauterine growth retardation, fine sparse hair, reticulate skin pigmentation, bone marrow failure, cerebral calcification, cerebellar hypoplasia and psychomotor retardation. Few patients with this syndrome have been reported, and significant clinical variations exist among patients. This report describes the first Brazilian case of Revesz syndrome and its ocular and clinical features.

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Section: Discussionsupporting

confidence: 90%

Section: Discussionsupporting

confidence: 49%

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Revesz syndrome

Issaho¹,

Moreira²,

Ribeiro³

et al. 2015

Revista Brasileira De Oftalmologia

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“…Hoyeraal-Hreidarsson (HH) Syndrome is a severe form of DC with BMF, immunodeficiency, microcephaly, cerebellar hypoplasia, intrauterine growth retardation, and developmental delay (Sznajer et al 2003;Vulliamy et al 2006). Revesz Syndrome, characterized by bilateral exudative retinopathy, bone marrow hypoplasia, nail dystrophy, fine hair, cerebellar hypoplasia, and growth retardation, also appears to be in the DC disease spectrum (Kajtar and Mehes 1994;Revesz et al 1992). …”

Section: Disorders With Mutations In Telomere Biology Genes Dyskeratomentioning

confidence: 99%

The role of telomere biology in bone marrow failure and other disorders

Savage

Alter

2008

Mechanisms of Ageing and Development

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Telomeres, consisting of nucleotide repeats and a protein complex at chromosome ends, are essential in maintaining chromosomal integrity. Dyskeratosis congenita (DC) is the inherited bone marrow failure syndrome (IBMFS) that epitomizes the effects of abnormal telomere biology. Patients with DC have extremely short telomere lengths (<1 st percentile) and many have mutations in telomere biology genes. Interpretation of telomere length in other IBMFSs is less straightforward. Abnormal telomere shortening has been reported in patients with apparently acquired hematologic disorders, including aplastic anemia, myeolodysplasia, paroxysmal nocturnal hemoglobinuria, and leukemia. In these disorders, the shortest lived cells have the shortest telomeres, suggestive of increased hematopoietic stress. Telomeres are also markers of replicative and/or oxidative stress in other complex disease pathways, such as inflammation, stress, and carcinogenesis.The spectrum of related disorders caused by mutations in telomere biology genes extends beyond classical DC to include marrow failure that does not respond to immunosuppression, idiopathic pulmonary fibrosis, and possibly other syndromes. We suggest that such patients are categorized as having an inherited disorder of telomere biology. Longitudinal studies of patients with very short telomeres but without classical DC are necessary to further understand the long-term sequelae, such as malignancy, osteonecrosis/osteoporosis, and pulmonary and liver disease.

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“…We found two previous reports of CRMCC patients with an identical mutation in TINF2 to that in our patient. 7,8 Kajtar et al 4 described a 2-year-old girl with CRMCC successfully treated with allogeneic BMT from an HLA-identical brother. The post-transplantation course in this patient was uneventful with only mild GVHD.…”

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confidence: 99%