Revesz syndrome
Rev. bras. oftalmol
; 74(2): 110-112, Mar-Apr/2015. graf
Article
in English
| LILACS
| ID: lil-744629
Responsible library:
BR1.2
ABSTRACT
Revesz 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.
RESUMO
A síndrome de Revesz é uma rara variante de disceratose congênita caracterizada por retinopatia exsudativa bilateral, alterações no segmento anterior ocular, retardo do crescimento intrauterino, pilificação fina e escassa, pigmentação cutânea reticular, falência da medula óssea, calcificações cerebrais, hipoplasia cerebelar e retardo neuropsicomotor. Há variações clínicas significativas entre os poucos relatos desta patologia existentes na literatura. Descrevemos o primeiro caso brasileiro de síndrome Revesz e suas características clínicas e oculares.
Full text:
Available
Collection:
International databases
Database:
LILACS
Main subject:
Pancytopenia
/
Vitreous Hemorrhage
/
Retinal Detachment
/
Strabismus
/
Dyskeratosis Congenita
Limits:
Female
/
Humans
/
Infant
Language:
English
Journal:
Rev. bras. oftalmol
Journal subject:
Ophthalmology
Year:
2015
Document type:
Article
Affiliation country:
Brazil
Institution/Affiliation country:
Hospital de Olhos do Paraná/BR
/
Universidade Federal de São Paulo/BR
/
Universidade Federal do Paraná/BR