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Query: UMLS:C0038379 (strabismus)
 9,317 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

At 7 months of age, an infant with Lowe's oculocerebrorenal syndrome developed an epimacular membrane after three intraocular surgeries in the right eye. Serial fundus photographs document the membrane's appearance 6 months after lensectomy/vitrectomy for a dense cataract and 2 months after the second trabeculotomy for congenital glaucoma. Epimacular membranes are a vitreoretinal disorder found almost exclusively in adults. To the best of our knowledge, this is the first documented case of acquired preretinal macular membrane in an infant and the youngest case reported in the literature. The loss of formed vitreous and repeated deposition of blood products into the vitreous cavity may be responsible for the development of this preretinal membrane.
J Pediatr Ophthalmol Strabismus
PMID:Acquired epimacular membrane after multiple intraocular procedures in an infant. 341 24

A clinical and pathologic study of a neonate with mosaic trisomy 9 revealed findings similar to those in other cases with this chromosomal anomaly. Except for deeply-set eyes and small palpebral fissures with slight telecanthus, our ocular findings have not previously been described in mosaic trisomy 9. The most striking ocular pathologic alterations involved the anterior segment and included a keratolenticular adhesion and marked iris hypoplasia. There were similarities to Peters' anomaly as well as to ocular lesions associated with aplasia of th optic nerve and Lowe's and Potter's syndrome. The ocular and extraocular anomalies in our patient appear to have resulted from a mesodermal dysgenesis operational between one and five and a half months of gestation.
J Pediatr Ophthalmol Strabismus
PMID:Pathologic features of the eye in trisomy 9. 680 24

Intellectual disability (ID), a common neurodevelopmental disorder characterized by limitations of both intellectual functioning and adaptive behavior, affects an estimated 1-2% of children. Genetic causes of ID are often accompanied by recognizable syndromal patterns. The vision apparatus is a sensory extension of the brain, and individuals with intellectual disabilities frequently have coexisting abnormalities of ocular structures and the visual pathway system. About one-third of the X-linked intellectual disability (XLID) syndromes have significant eye or ocular adnexa abnormalities that provide important diagnostic clues. Some XLID syndromes (e.g. Aicardi, cerebrooculogenital, Graham anophthalmia, Lenz, Lowe, MIDAS) are widely known for their characteristic ocular manifestations. Nystagmus, optic atrophy, and strabismus are among the more common, nonspecific, ocular manifestations that contribute to neuro-ophthalmological morbidity. Common dysmorphic oculofacial findings include anophthalmia, microphthalmia, hypertelorism, and abnormalities in the configuration or orientation of the palpebral fissures. Four XLID syndromes with major ocular manifestations (incontinentia pigmenti, Goltz, MIDAS, and Aicardi syndromes) are notable because of male lethality and expression occurring predominantly in females. The majority of the genes associated with XLID and ocular manifestations have now been identified.
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PMID:Ocular manifestations in the X-linked intellectual disability syndromes. 2811 79