[Familial exudative vitreo-retinopathy in a Tunisian family]

Familial exudative vitreoretinopathy [FEVR] is a hereditary ocular disorder with retinal and vitreous abnormality similar to those seen in retinopathy of prematurity. It manifests with a premature arrest of peripheral retinal capillaries. We report an observation of aTunisian family whose 5 members presented clinical signs of FEVR. We report a case of a Tunisian family whose mother and 4 children had fundus ocular abnormalities calling up for FEVR. Clinical manifestations were various with retinal detachment, temporal vasculature traction, macular ectopia and macular edema. FEVR diagnostic was made based on these clinical presentations and after eliminating premature retinopathy. FEVR is one of the causes of retinal detachment in children with retinopathy of prematurity. when FEVR is suspected, families members must be examinated in order to confirm the diagnostic, to detect signs of this disease and to prevent its complications in these cases

[Optic disc drusen in alagille syndrome]

Alagille syndrome [AS] is one of the six forms of familial intrahepatic cholestasis, [AS] signs were neonatal jaundice and paucity of intrahepatic bile ducts. The ophthalmic features distinguish AS from the other forms of familial intrahepatic cholestasis. Posterior embrytoxon is the most common ophthalmic sign associated with this syndrome. We report a case of five months old boy that was suspected to have AS based on the association of jaundice, facial and skeletal abnormalities. Ocular examination revealed slightly elevated optic disc with irregular borders in both eyes. There was evidence of optic disc drusen in ocular B scan ultrasound in both eyes. Ocular ultrasound is a useful tool in the diagnosis of AS particularly in the cases which embrytoxon is absent or difficult to detect [young children]