What's new AAPOS 2008 - The Private Eye Clinic

They performed high-resolution chromosome analysis of 11p13 on 193 aniridia cases
and subsequently FISH analysis. FISH analysis of aniridia patients identifies individuals
with WT1 deletions regardless of whether or not they have Wilms tumor, allowing the
deletion size to be correlated with clinical outcome. Wilms tumor was not observed in
any case without a WT1 deletion. Of those individuals in which WT1 was deleted, 77%
with submicroscopic deletions (detectable only by high resolution FISH) presented with
Wilms tumor compared to 42.5% with visible deletions (detectable by microscope).
High resolution deletion analysis is a useful tool for assessing the risk of Wilms tumor in
neonates with aniridia. Individuals with submicroscopic WT1 deletions have a
significantly increased risk of Wilms tumor and a high level of vigilance should be
maintained in such cases.
Ocular involvement in children with localized scleroderma: A multicenter study.
Zannin ME, Martini G, Athreya BH, Russo R et al.
Br J Ophthalmol. 2007 May 2; [Epub ahead of print]
Juvenile localized scleroderma (JLS) is the most frequent subtype of scleroderma in
children. There are 4 subtypes: 1) plaque morphea (PM), 2) generalized morphea, 3)
deep morphea (DM), and 4) linear scleroderma LS). Each can involve the face,
particularly the orbit.
The authors present their collated data on ocular features from a large multinational
study of children with LS. Twenty-four out of 750 patients (3.2%) had significant ocular
involvement. But 14% of the patients with “en coup de saber” (ECDS) demonstrated
ocular features. The most common was fibrotic involvement of the eyelids and/or
lashes and/or lacrimal system with dry eyes. Anterior segment problems were seen in 7
patients (29.2%) with anterior uveitis, the most common. Episcleritis was also seen and
steroid resistant. One patient had paralytic strabismus. These patients with ocular
findings also demonstrated a high prevalence (50%) of concomitant involvement of
other internal organs, particularly the CNS.
The authors recommend careful ophthalmic monitoring in any patient with JLS, but
mandatory in those with skin lesions on the face and/or concomitant CNS involvement.
Retinal degeneration in children: Dark adapted visual threshold and arteriolar
diameter.
Hansen RM, Eklund SE, Benador IV, Mocko JA et al.
Vision Res 2007 Aug; doi:10/1016/j.visres 2007.07.009.
The authors assess the retina using dark adapted visual threshold (DAT) and arteriolar
diameters in patients with Leber Congenital Amaurosis (LCA), Bardet-Biedl syndrome
(BBS) and Usher syndrome (USH). The mutations causing LCA, BBS and USH
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