X-linked recessive familial exudative vitreoretinopathy

Familial exudative vitreoretinopathy is an inherited disorder characterized by retinal traction, peripheral vitreous opacities, and subretinal and intraretinal exudates. We observed a family in which four boys (the children of three sisters) were affected with this disorder and an X-linked recessive...

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Bibliographic Details
Published inAmerican journal of ophthalmology Vol. 114; no. 2; p. 145
Main Authors Plager, D A, Orgel, I K, Ellis, F D, Hartzer, M, Trese, M T, Shastry, B S
Format Journal Article
LanguageEnglish
Published United States 15.08.1992
Subjects
Child, Preschool
Chromosome Aberrations - diagnosis
Chromosome Disorders
Diagnosis, Differential
Exudates and Transudates
Eye Diseases - diagnosis
Eye Diseases - genetics
Genetic Linkage - genetics
Humans
Infant
Male
Pedigree
Retinal Diseases - diagnosis
Retinal Diseases - genetics
Vitreous Body
X Chromosome
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Summary:Familial exudative vitreoretinopathy is an inherited disorder characterized by retinal traction, peripheral vitreous opacities, and subretinal and intraretinal exudates. We observed a family in which four boys (the children of three sisters) were affected with this disorder and an X-linked recessive inheritance was apparent. The differential diagnosis includes retinopathy of prematurity, primary hyperplastic primary vitreous, Coats' disease, peripheral uveitis, retinoblastoma, and Norrie's disease, but this differentiation can usually be made on the basis of clinical findings alone. Knowledge of X-linked recessive transmission is important for correct diagnosis and for genetic counseling.
ISSN:0002-9394
DOI:10.1016/S0002-9394(14)73977-7