Limbal stem cell deficiency in the context of autoimmune polyendocrinopathy.
OBJECTIVE
To report two sisters with bilateral progressive visual loss and photophobia secondary to stem cell deficiency due to multiple endocrine deficiency.


METHODS
Case reports and review of medical literature.


RESULTS
The younger sister had severe photophobia and decreased visual acuity since May 2000. Despite multiple outpatient visits no definite cause was found and conservative treatments failed. On slit lamp examination severe meibomian gland dysfunction, loss of eyelashes, decreased tear meniscus, diffuse corneal vascularization, and delayed punctate fluorescein staining of corneal epithelium were detected. She also had episodes of hypotension, oral candidiasis, and seizures. Her systemic workup revealed multiple endocrine deficiency (Addison's disease and hypoparathyroidism). Hormone replacement therapy with fludrocortisone and oral calcium accompanied by punctual occlusion led to significant clinical recovery . The older sister showed a similar pattern but interestingly the onset was later and the signs and symptoms were milder.


CONCLUSIONS
In the pediatric age group with diffuse corneal vascularization and no definite cause, systemic workup should be done to rule out multiple endocrine deficiencies. The therapy consists of hormone replacement therapy and management of dry eye.
Mohammadpour
M
M
Ophthalmic Research Center, Labbafinejad Medical Center, Shaheed Beheshti University of Medical Scienes,Tehran, Iran.
Javadi
M A
MA
Karimian
F
F
D000293:Adolescent; D000893:Anti-Inflammatory Agents / Q000627:therapeutic use; D002118:Calcium / Q000008:administration & dosage; D002648:Child; D016510:Corneal Neovascularization / Q000175:diagnosis / Q000188:drug therapy / Q000209:etiology* / Q000235:genetics; D004359:Drug Therapy, Combination; D015352:Dry Eye Syndromes / Q000175:diagnosis / Q000188:drug therapy / Q000209:etiology* / Q000235:genetics; D019573:Epithelium, Corneal / Q000473:pathology*; D005260:Female; D005438:Fludrocortisone / Q000627:therapeutic use; D006801:Humans; D016850:Limbus Corneae / Q000473:pathology*; D016884:Polyendocrinopathies, Autoimmune / Q000150:complications* / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics; D035781:Siblings; D013234:Stem Cells / Q000473:pathology*; D014786:Vision Disorders / Q000209:etiology
D000893:Anti-Inflammatory Agents; D002118:Calcium; D005438:Fludrocortisone