Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0086543 (cataract)
 29,165 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

This is a report of new case of PIBI(D)S, a rare autosomal recessive syndrome characterized by photosensitivity, ichthyosis, brittle sulfur-deficient hair (trichothiodystrophy), impaired intelligence, decreased fertility, and short stature. Bilateral cataract and axial osteosclerosis were also detected. Magnetic resonance imaging (MRI) revealed diffuse central nervous system dysmyelination, a finding also described in the only three other reported cases in which MRI was performed. The paper also considers certain similarities in neurological signs and neuroradiological findings between PIBI(D)S, Cockayne syndrome, and xeroderma pigmentosum--all of which are inherited diseases characterized by photosensitivity and DNA repair defect.
 ...
PMID:Central nervous system dysmyelination in PIBI(D)S syndrome: a further case. 867 78

Trichothiodystrophy refers to a group of autosomal recessive disorders that have in common brittle sulphur-deficient hair (7). The abnormalities are usually obvious at birth and the clinical expression is variable. Ocular abnormalities are common with bilateral cataract being the most frequent one. We report on a four year old boy with trichothiodystrophy (complementation group TTD-A) who presented to us with strabismus, high myopia and bilateral cataract.
 ...
PMID:Bilateral cataract and high myopia in a child with trichothiodystrophy: a case report. 1245 35

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