Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0038379 (strabismus)
 9,317 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The authors present a review of the most commonly observed ophthalmological troubles in 244 cases of children affected by cranio-facio stenoses and hospitalized for a first examination. The fundus examination shows that nearly all types of cranio-facio stenoses can be complicated by intracranial hypertension with potential damage on the optic nerve. The hyper and hypotelorisms, particularly frequent, carry along aesthetic prejudice and effect on the ocular motility. In the most severe forms of the diseases (Alport), pseudo-exophthalmy by retrusion of the face can justify preventive surgical procedures in emergency. Squint is frequent (36.5%). All types can be found. Finally, the authors certify the frequency and the seriousness of ocular repercussion, even in so called benign types of cranio-stenoses, such as plagiocephaly, trigonocephaly, and scaphocephaly.
 ...
PMID:[Ophthalmologic complications of craniofacial stenoses. Apropos of 244 cases]. 358 28

We described a family in which two siblings were suffering from Alport's syndrome. Both had identical ocular lesions: whitish-grey dots in the superficial layers of the retina mainly in the posterior pole. The visual acuity, the visual field, and the fundus fluorescein angiogram were normal. These lesions were associated with an impaired ERG. The ocular finding seems to be characteristic of the Alport's syndrome.
J Pediatr Ophthalmol Strabismus
PMID:Retinal lesions in Alport's syndrome. 741 40