- ►nih.gov LM Downey, HM Bottomley, E Sheridan, M … - British Journal of Ophthalmology, 2006 - bjo.bmj.com Background/aims: Familial exudative vitreoretinopathy (FEVR) is an inherited
blinding condition characterised by abnormal development of the retinal
vasculature. FEVR has multiple modes of inheritance, and homozygous ... Cited by 6 - Related articles - BL Direct - All 9 versions
M Sazgar, NJ Leonard, DL Renaud, R … - Pediatric neurology, 2002 - Elsevier Exudative retinopathy of Coats' type is a unilateral and sporadic disorder. When
observed bilaterally and presenting at a younger age, it is sometimes called
bilateral Coat's disease or exudative vitreoretinopathy. The diagnosis is ... Cited by 4 - Related articles - All 12 versions
PA Duprey, JW Steger - Journal of the American Academy of Dermatology, 1988 - ncbi.nlm.nih.gov 1: J Am Acad Dermatol. 1988 Oct;19(4):760-2. An unusual case of dyskeratosis
congenita with intracranial calcifications. Duprey PA, Steger JW. ... Cited by 6 - Related articles
NA Gayatri, MI Hughes, IC Lloyd, RF Wynn - European Journal of Paediatric Neurology, 2002 - Elsevier We present a child with Fanconi anaemia and congenital hypopituitarism, who
developed intracerebral calcifications, progressive spasticity and retinopathy.
The chromosome fragility with mitomycin C was increased in both the patient ... Cited by 7 - Related articles - BL Direct - All 2 versions
G Effenterre, J Haut, A Brezin, Y Mer, JC … - Graefe's Archive for Clinical and Experimental …, 1989 - Springer Abstract. A new family syndrome is described that affected three of seven
siblings and another patient who had been abandoned at birth but came from the
same area of France. All four patients were young women with a very ... Cited by 6 - Related articles - All 3 versions
I Niedermayer, W Reiche, N Graf, P Mestres, … - Clinical neuropathology - ncbi.nlm.nih.gov We report two sisters affected with a unique disorder characterized by recurrent
space-occupying brain lesions and retinal vasculopathy since their early
twenties. Affection status was associated with abnormalities characteristic ... Cited by 6 - Related articles - BL Direct - All 2 versions
M Qin, H Kondo, T Tahira, K Hayashi - Human Genetics, 2008 - Springer Abstract Mutations in Norrin signaling genes (NDP, FZD4 and LRP5) have been
found in patients with familial exudative vitreoretinopathy (FEVR) and the
altered signal- ing is suspected to play a critical role in its ... Related articles - All 2 versions
[CITATION] Cerebroretinal microangiopathy with calcifications and cysts (CRMCC) How to cite this …
TA Briggs - American Journal of Medical Genetics Part A, 2008 - Wiley Subscription Services, Inc., A Wiley Company … Related articles
P Kwinta, JJ Pietrzyk - Expert Review of Ophthalmology, 2007 - ingentaconnect.com Retinopathy of prematurity (ROP) is the most common avoidable cause of blindness
and impaired vision among children in developed countries. It is unclear at
present why ROP progresses to severe disease in one group of very low birth- ... Related articles - BL Direct - All 3 versions
