Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Target Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Query: UMLS:C0314719 (
dry eye
)
2,625
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
Trichothiodystrophy belongs to a group of rare genetic diseases characterized by DNA repair anomalies. Ocular manifestations can occur in 50% of cases, including cataract, refractive errors, strabismus, microcornea, microphthalmia,
dry eye
, and pigmentary macular changes. We report a case of childhood glaucoma in a patient with
trichothiodystrophy
who underwent trabeculectomy in the left eye. To our knowledge, this is the first clinical report of childhood glaucoma associated with
trichothiodystrophy
.
...
PMID:Trichothiodystrophy: a case report of childhood glaucoma associated with non-acquired systemic disease. 3032 42
