Ocular findings in cutis marmorata telangiectatica congenita. Bilateral exudative vitreoretinopathy.
BACKGROUND
Cutis marmorata telangiectatica congenita is a rare, cutaneous, reticulated, vascular anomaly characterized by congenital persistent cutis marmorata, telangiectasis, and phlebectasis. While systemic abnormalities frequently are associated with cutis marmorata telangiectatica congenita, ophthalmic abnormalities are quite rare and include congenital glaucoma and congenital, bilateral, total retinal detachments with secondary glaucoma.


METHODS
The authors report a case of bilateral, tractional retinal detachments associated with peripheral fibrovascular proliferation simulating familial exudative vitreoretinopathy in a female child with cutis marmorata telangiectatica congenita. Molecular genetic analysis of the Norrie's disease gene was performed.


RESULTS
After vitrectomy, the posterior poles of both eyes were reattached successfully. No abnormalities of the Norrie's disease gene were identified.


CONCLUSIONS
Bilateral exudative vitreoretinopathy is a rare ophthalmic manifestation associated with cutis marmorata telangiectatica congenita.
Pendergast
S D
SD
William Beaumont Eye Institute, Royal Oak, Michigan, USA.
Trese
M T
MT
Shastry
B S
BS
D002675:Child, Preschool; D005260:Female; D005654:Fundus Oculi; D006801:Humans; D010689:Phlebitis / Q000150:complications / Q000151:congenital* / Q000473:pathology; D012163:Retinal Detachment / Q000150:complications* / Q000473:pathology / Q000601:surgery; D012871:Skin Diseases / Q000150:complications / Q000151:congenital* / Q000473:pathology; D013684:Telangiectasis / Q000150:complications / Q000151:congenital* / Q000473:pathology; D014821:Vitrectomy; D018630:Vitreoretinopathy, Proliferative / Q000150:complications* / Q000473:pathology / Q000601:surgery