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)

A 12-year-old girl with a translucent, partially calcified retinal mass in the posterior pole surrounded by a rim of pigment epithelial changes and chorioretinal atrophy was diagnosed as having retinocytoma. The patient received a single treatment of transpupillary thermotherapy at the slit lamp to prevent malignant transformation. The dimensions of the lesion and the visual acuity remained unchanged at 3.5 years of follow-up with no further treatment. Retinocytoma is a benign retinal tumor that carries the same genetic implications as retinoblastoma. Regular follow-up is necessary because the tumor can demonstrate malignant transformation.
J Pediatr Ophthalmol Strabismus
PMID:A rare case of retinocytoma occurring in a 12-year-old child. 1828 65

A 20-year-old man who had progressive hemifacial atrophy was examined using fluorescein and indocyanine green angiography. The fundus showed sectional chorioretinal atrophy. Fluorescein angiography showed window defects without leakage. Indocyanine green angiography revealed narrow choroidal vessels with hypofluorescence.
J Pediatr Ophthalmol Strabismus
PMID:Fluorescein and indocyanine green angiographic findings in progressive hemifacial atrophy. 1921 82

We report the case of a 2-month-old girl with Dandy-Walker variant who presented with strabismus, pathologic myopia measuring -16.00 D in each eye, diffuse chorioretinal atrophy and pigment mottling in the macula of both eyes, and areas of retinal capillary nonperfusion in both eyes. The patient's brother also has Dandy-Walker variant and was found to have bilateral severe myopia, myopic fundi, tilted optic disks with peripapillary atrophy, extensive areas of white without pressure, areas of lattice degeneration, and several chronic-appearing atrophic retinal holes surrounded by pigmentation. We hypothesize that children with Dandy-Walker variant may present with refractive errors such as pathologic myopia and with diverse retinal findings, including retinal ischemia. A lower threshold for ophthalmologic examination may be considered in this population.
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PMID:Retinal vascular nonperfusion in siblings with Dandy-Walker variant. 2707 1