Long-term ocular follow-up in a case with hereditary mucoepithelial dysplasia.
Hereditary mucoepithelial dysplasia is a rare desmosomal gap junction abnormality known to produce keratitis and cataracts in addition to multiple systemic problems. It generally carries a poor visual prognosis due to corneal scarring, amblyopia, and side effects of the treatment. The authors present a sporadic case of hereditary mucoepithelial dysplasia with an unusually good visual outcome and suggest that timely and appropriate intervention can improve the visual prognosis of this rare disorder.
Addenbrooke’s Hospital, Cambridge, United Kingdom.
Venkata S
VS
Avadhanam
Peng T
PT
Khaw
Keith R
KR
Martin
D000505:Alopecia / Q000150:complications* / Q000175:diagnosis; D002386:Cataract / Q000175:diagnosis / Q000209:etiology*; D002387:Cataract Extraction; D002675:Child, Preschool; D016510:Corneal Neovascularization / Q000209:etiology*; D005139:Eyeglasses; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D007642:Keratosis / Q000150:complications* / Q000175:diagnosis; D019654:Lens Implantation, Intraocular; D009092:Mucous Membrane; D009216:Myopia / Q000209:etiology* / Q000628:therapy; D020795:Photophobia / Q000209:etiology*; D012868:Skin Abnormalities / Q000150:complications* / Q000175:diagnosis; D014792:Visual Acuity