What's new AAPOS 2008 - The Private Eye Clinic

Laryngeal and tracheal anomalies
Positive family history
Nasal anomalies
Apical involvement with fibrous dysplasia: Implications for vision
Cruz AA, Constanzi M, de Castro FA, dos Santos AC.
Ophthal Plast Recontrs Surg 2007 Nov-Dec; 23(6):450-454.
Patients with orbital Fibrous Dysplasia (FD) present with the classical signs of proptosis,
dystopia and periorbital facial asymmetry. FD is a disorder of the adenyl cyclase
system. This is a prospective case series of 21 patients with fibrous dysplasia with
orbital involvement. Four of the patients had McCune Albright syndrome and 1 had
Tuberous Sclerosis. Strabismus was not a frequent complication; 2/21(9.5%). Lacrimal
duct obstruction was also infrequent; 1/21(4.76%) had epiphora. Of the 34 orbits
affected, the roof was affected in 67.7%, whereas the floor was the least affected wall.
Nineteen orbits showed radiologic signs of optic canal and/or superior orbital
encasement. No patient showed any sign of trigeminal dysfunction or severe visual
loss, despite long disease duration. The authors believe that patients with apical
involvement should be carefully followed and have their apices decompressed only
when their vision is clearly deteriorating. Their data does not support prophylactic optic
canal decompression as a therapeutic measure. The authors believe the presence of
intralesional cysts near the apex is clearly an indication for surgery.
Ocular Clusterin expression in von Hippel-Lindau disease
Zhou M, Shen D, Head JE, Chew EY et al.
Mol Vision 2007 Nov; 13:129-26.
Retinal hemangioblastoma/hemangioma is the most frequent and often earliest clinical
manifestation of VHL disease. Although retinal hemangioblastoma associated with VHL
usually presents at a relatively young age (median 25 years), the cumulative probability
increases each decade of life, reaching 80% by the eighth decade. The majority of
initial retinal hemangioblastoma associated with VHL disease are located in peripheral
retina, while per papillary lesions are only reported in 10% of cases. Complications
from retinal hemangioblastomas, even in optimally treated cases are visually significant.
The probability of visual loss is age dependent. The life time cumulative probability of
permanent visual loss is 60, with most of the risk (43%) falling with within the first 30
years of life.
Clusterin (also termed apolipoprotein J) is a multifunctional glycoprotein. This is a
retrospective case series investigating ocular clusterin expression in VHL in 9 eyes with
retinal hemangioblastoma, one eye with VHL but without ocular disease, one surgically
excised optic nerve with optic nerve hemangioblastoma, and 3 normal control eyes.
Ocular specimen were evaluated by routine histology, immnohistochemistry for clusterin
expression, and molecular detection of clusterin transcripts with ocular VHL
hemangioblastomas compared with normal tissue from the same eye using
microdissection and quantitative real time PCR. There was marked decrease of
clusterin immunoreactivity in all retinal hemangioblastoma and the optic nerve
hemangioblastoma , whereas positive clusterin reactivity of the vascular and glial
components were similar to that of normal retina. PCR confirmed the decrease of
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