Preferred Label : Pseudopapilledema;
Type : Other, mainly phenotypes with suspected mendelian basis;
Description : Hoyt and Pont (1962) described 28 patients with an anomalous elevation of the optic
disc, who were first thought to have brain tumors. Identical twins were affected.
McKusick (1963) observed affected father and daughter and thought 'buried drusen'
to be the cause. Jacquemin (1964) reported mother and 2 daughters. There may be more
than one type of pseudopapilledema. Fite and Lewis (1966) described father and 2 sons
with a type due apparently to 'hyperemia.' Singleton et al. (1973) reported 3 families
with pseudopapilledema, which was present in 1 member of each of 3 generations in
1 family and in 1 member of each of 2 generations in the other 2 families. There was
no case of male-to-male transmission in these kindreds. Kurz-Levin and Landau (1999)
reviewed the clinical records of 142 patients with possible pseudopapilledema. Thirty-six
of the 261 eyes reviewed had been imaged with 3 techniques: B-scan ultrasonography,
CT scanning, and preinjection control photography. The authors concluded that drusen
of the optic nerve head are most reliably diagnosed using B-scan echography. Diduszyn
et al. (2002) reported bilateral visual loss in a patient with optic disc drusen (ODD)
and POEMS syndrome (see 192240). Visual loss occurred when the patient developed peripapillary
choroidal neovascularization and subsequent hemorrhage in the subretinal space. The
authors hypothesized that the elevated VEGF (192240) due to POEMS syndrome might have
played a role in the development of choroidal neovascularization. Purvin et al. (2004)
reviewed medical records of 20 patients who experienced an episode of nonarteritic
anterior ischemic optic neuropathy (NAION; 258660) in an eye with ODD. The authors
found that their patients were strikingly similar to those with NAION unassociated
with drusen with regard to prevalence of vascular risk factors, pattern of visual
field loss, and occurrence of a subsequent similar event in the other eye. In contrast,
however, patients with ODD and NAION were younger than those with NAION, were more
likely to report preceding episodes of transient visual obscuration, and had a more
favorable visual outcome. *FIELD* SA Chambers and Walsh (1951); Lorentzen (1961);
Lorentzen (1966) *FIELD* RF 1. Chambers, J. W.; Walsh, F. B.: Hyaline bodies in the
optic discs: report of 10 cases exemplifying importance in neurological diagnosis.
Brain 74: 95-108, 1951. 2. Diduszyn, J. M.; Quillen, D. A.; Cantore, W. A.; Gardner,
T. W. : Optic disk drusen, peripapillary choroidal neovascularization, and;
Prefixed ID : 177800;
Origin ID : 177800;
UMLS CUI : C0155300;
Automatic exact mappings (from CISMeF team)
- Currated CISMeF NLP mapping
- DO Cross reference
- Semantic type(s)
- UMLS correspondences (same concept)
