Zinsser-Engman-Cole-Syndrom (Dyskeratosis congenita) mit schwerem Sicca-Syndrom, Panuveitis und Hornhautperforation - eine Kasuistik12

Abstract

The defect in cell-mediated immune mechanisms in Z.E.C. syndrome explains the corneal perforation, sicca syndrome and uveitis, first reported in this syndrome.

Ocular and Orbital Manifestations of the Inherited Bone Marrow Failure Syndromes: Fanconi Anemia and Dyskeratosis Congenita

“…Abnormalities of the adnexa and anterior segment include punctal atresia and nasolacrimal duct obstruction,26-32 conjunctivitis,33 trichiasis,28, 33 entropion, ectropion, loss of eye lashes,33 corneal scarring,33, 34 ulceration and perforation,28 and cataracts. Optic nerve atrophy,27, 29, 35 retinal vascular sheathing, retinal hemorrhages and neovascularization29, 34, 36-39 and exudative retinopathy40, 41 have been described involving the posterior segment.…”

Clinical relationship between dry eye disease and uveitis: a scoping review

“… Case report 1 1 1 Male: 0 Female: 1 Anterior: 1 Primary Sjögren’s syndrome 1/1 52 The patient had KCS confirmed by Schirmer test and rose-Bengal stain Description of a 52 year old patient with Sjogren’s syndrome who developed uveitis and KCS Hegab SM et al [ 23 ], 1997 Ocular sarcoidosis in Kuwait with a review of literature Case series 18 18 6 Male: 8 Female: 10 - Anterior: 5 - Intermediate + Anterior: 10 - Panuveitis: 3 Ocular sarcoidosis 18/18 19 1/6 had severe dry eyes noted by Schirmer’s test reading 0 Description of patients with ocular sarcoidosis. Among patients with uveitis 33.3% (6/18) had dry eye Araki T et al [ 24 ], 2001 Two elderly patients with sarcoidosis and Sjögren’s syndrome Case series 2 2 2 Male: 0 Female: 2 N/A Sjögren’s syndrome and Sarcoidosis 2/2 70 2/2 patients with uveitis had a positive Schirmer test and rose Bengal staining Description of 2 elderly patients with sarcoidosis and Sjögren’s syndrome who developed dry eye and uveitis Zagórski Z et al [ 25 ], 2001 [Zinsser-Engman-Cole syndrome (dyskeratosis congenita) with severe sicca syndrome, panuveitis and corneal perforation--a case report]. Case report 1 1 1 Male: 1 Female: 0 Panuveitis: 1 Zinsser-Engman-Cole syndrome 1/1 46 The patient with uveitis had a Schirmer test I with OD 0 mm and OS 9 mm Description of a 46 year old patient with Zinsser-Engman-Cole syndrome who developed uveitis and dry eye Ramos-Casals M et al [ 26 ], 2004 Sarcoidosis or Sjögren Syndrome?…”

“…Four studies describe a relationship between ocular sarcoidosis (OcSar) and SS [ 23 , 24 , 26 , 28 ]. The other three describe cases of IgG4-related disease [ 27 ], Zinsser-Egman-Cole syndrome [ 25 ], and Blau syndrome [ 45 ], in which patients presented uveitis and clinical features of DED. Interestingly, most patients were women with anterior uveitis.…”

Fanconi anemia and dyskeratosis congenita/telomere biology disorders: Two inherited bone marrow failure syndromes with genomic instability

“…Ocular size is not a main feature, only small outer canthal distance and palpebral fissure length have been reported ( 151 ). The most common findings in DC/TBD are nasolacrimal duct obstruction in 29% ( 164 – 166 ), retinopathy in 21%, trichiasis ( 165 , 167 ), and entropion in 7% ( 151 , 167 ). The spectrum of ocular anomalies also includes conjunctivitis ( 167 ), ectropion ( 168 ), corneal scarring ( 167 ), cataracts ( 169 , 170 ), and retinal vasculopathy ( 171 – 174 ).…”