Multiple Evanescent White-Dot Syndrome in a 14-Year-Old Girl

PURPOSE: To report a case of multiple evanescent white-dot syndrome (MEWDS) in a 14-year-old female. CASE SUMMARY: A 14-year-old female presented with decreased visual acuity. Review of systems was unremarkable except for a recent upper respiratory infection prior to her symptoms. On examination, her visual acuity was 20/20 in the right eye and 20/200 in the left eye. Relative afferent pupillary defect was observed. Examination of the left fundus revealed optic disc edema and multiple white dots in the posterior pole. Humphrey visual field test showed enlargement of the blind spot in the left eye. Fluorescein angiography revealed hyperfluorescence and late leakage of the white dots. Indocyanine green angiography showed enlarged late hypofluorescence of the white dots. MEWDS was diagnosed and the patient was followed up with serial examinations. At a follow-up examination 2 weeks later, visual acuity in the left eye improved to 20/70. The majority of white dots on fundus had disappeared and the enlarged scotoma in the left eye recovered to normal size on Humphrey visual field test. At a follow-up examination 3 months later, visual acuity in the left eye improved to 20/30 and residual white dots had further disappeared. CONCLUSIONS: Cases of MEWDS have been reported in patients as old as 67 years; however, MEWDS is a rare disease and most patients are young females. The authors describe the youngest case to date in Korea of MEWDS in 14-year-old female with typical clinical course.

Multiple Endocrine Neoplasia Type 2B: Early Diagnosis Based on Conjunctival Neuroma

PURPOSE: To report a case of multiple endocrine neoplasia type 2B (MEN 2B) diagnosed early based on conjunctival neuroma. CASE SUMMARY: A 15-year-old female presented with red eye and conjunctival mass in both eyes. A 5 x 5 mm-sized yellowish conjunctival mass adjacent to the limbus was observed in her right eye and a 3 x 3 mm-sized mass in her left eye. Excisional biopsy was performed and the patient was diagnosed with conjunctival neuroma. Other abnormalities were not found on the ophthalmic examination, but she had characteristic appearances such as thickened upper eyelid, mild telecanthus and nodular edematous upper lip. She was transferred to the Endocrinology Department for systemic evaluation in consideration of multiple endocrine neoplasia. Abdominal pelvic computed tomography and a 24-hr urine collection analysis showed asymptomatic pheochromocytoma. Thyroid ultrasonography and fine-needle biopsy revealed medullary thyroid carcinoma. Finally, MEN type 2B was confirmed by using a RET mutation gene test. CONCLUSIONS: Thyroid carcinoma can occur in MEN 2B in combination with pheochromocytoma and mucosal neuroma. Thickened corneal nerve fiber and perilimbal conjunctival mass have been regarded as ophthalmologic characteristics of MEN 2B and may be accompanied by telecanthus, thickened upper eyelid and marfanoid habitus. A biopsy of the mass is required for pathological diagnosis. Medullary thyroid carcinoma is the most significant clinical component of MEN 2B syndrome and thyroidectomy is indicated. MEN 2B may be a rare syndrome, but its consequences are serious and the ophthalmologist may play a lifesaving role in its diagnosis.