Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0027960 (mole)
 21,279 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A case is reported of an asymptomatic unilateral jet-black mass lesion of the optic nervehead with contiguous iuxtapapillary choroidal pigmentation; unilateral ocular hypertension was present in the affected eye. Diagnosis of melanocytoma with contiguous choroidal nevus was made and an 18 month follow-up was performed. The diagnostic work-up and the importance of follow-up of melanocytoma-affected patients are stressed.
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PMID:Melanocytoma of the optic disc. 207 99

Iris melanosis is an unusual condition characterised by the presence of minute, discrete, pigmented elevations arising from the anterior surface of the iris. We encountered two unrelated Mexican families in which all children, but no parent, had varying degrees of the condition bilaterally. Some family members also gave findings suggestive of ocular hypertension. No family member had any other ocular or cutaneous pigmentary changes with the exception of a hairy naevus on the thigh of one member. To our knowledge these are the first families reported with more than one member having isolated iris melanosis. This is also the first report of a possible relationship with ocular hypertension. Finally we suggest that the term 'melanosis' may be a misnomer, since the condition is characterised not by abnormal iris hyperpigmentation but by discrete, round elevations on the anterior iris surface.
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PMID:Familial iris melanosis--a misnomer? 271 8

Iris mammillations are rarely described, distinctive villiform protuberances that can cover the iris. In the majority of reported cases they are unilateral and sporadic, and are seen in association with oculodermal melanosis. In past literature and current clinical practice they are frequently confused with the iris nodules seen in neurofibromatosis type 1. Their clinical significance is not established, although it has been suggested that iris mammillations may be an external sign of ocular hypertension or intraocular malignancy. We report a series of 9 patients between the ages of 3 and 28 years with iris mammillations. The mammillations appear as regularly spaced, deep brown, smooth, conical elevations on the iris, of uniform height or increasing in height as the pupil margin is approached. They often overlie a naevus or an exceptionally deeply pigmented iris, such as that seen in melanosis oculi. One case had an associated ciliary body mass. They tend to occur in more highly pigmented ethnic groups and can be dominantly inherited. Iris mammillations may occur in association with systemic conditions including phakomatosis pigmentovascularis type IIb and neurofibromatosis type 1 when they may even coexist with iris hamartomas.
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PMID:Iris mammillations: significance and associations. 876 9