Abstract bekijken

Deze abstract is toegekend aan sessies
Type presentatieE-poster
TitelProminent corneal nerves: not as innocuous as may seem
DoelTo describe two cases of prominent corneal nerves which led to a systemic diagnosis of multiple endocrine neoplasia (MEN) type 2B, the most severe of MEN types which features multiple benign oral and submucosal tumors in addition to endocrine malignancies of which medullary thyroid cancer is often fatal.
MethodesCase series of 2 patients
ResultatenThe first case was a 31-year-old male presenting with chronic, recurrent ocular redness and irritation. Slit-lamp findings showed bilateral diffusely enlarged corneal nerve fibers, peripheral corneal neovascularization and conjunctival neurinoma. The second was a 19-year-old female who was referred for left-sided conjunctivitis. She was found to have an induced relative ptosis due to subcutaneous neurinoma, prominent corneal nerve fibres and conjunctival neurinoma. Both had a marfanoid habitus, low muscle mass, chronic constipation, and multiple neuromas on their tongue. Considering the ocular and systemic findings, genetic analysis of the RET proto-oncogene was performed, which demonstrated a gain-of-function mutation, thus confirming the diagnosis of MEN type 2B. Urgent systemic work-up revealed pheochromocytoma and medullary thyroid carcinoma in both patients with lymph node involvement in the man and liver metastasized disease in the female.
ConclusieThe presence of diffuse prominent corneal nerve fibers warrants detailed assessment of the conjunctiva and eyelids for neuromas and history taking for signs of underlying MEN type IIb.
BelangenverstrengelingNee
Auteur 1
NaamVAN DEN NOORTGATE
InitialenR
InstituutDpt of Ophthalmology
StadGhent University Hospital, Belgium
Auteur 2
NaamKREPS
InitialenE
InstituutDpt of Ophthalmology
StadGhent University Hospital, Belgium
Auteur 3
NaamCALLEWAERT
InitialenB
InstituutCentre of Medical Genetics
StadGhent University Hospital, Belgium
top ^