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

We describe a young patient with combined hamartoma of the retina and retinal pigment epithelium who developed bilateral acoustic neuromas and meningiomas of the cervical-medullary junction and fifth cranial nerve. This case illustrates the association between combined hamartoma of the retina and retinal pigment epithelium and neurofibromatosis type 2. The authors recommend that children with a combined hamartoma of the retina and retinal pigment epithelium be screened for neurofibromatosis type 2.
J Pediatr Ophthalmol Strabismus
PMID:Combined hamartoma of the retina and retinal pigment epithelium in a patient with neurofibromatosis type 2. 175 56

An 8-week-old healthy female infant manifested leukocoria and reduced vision in the left eye. She was found to have bilateral combined hamartomas of the retina and retinal pigment epithelium. There were no other features of neurofibromatosis type 2 and brain imaging was normal. At 6 months of age, subtle posterior subcapsular lens opacity was noted in the right eye. Genetic testing for neurofibromatosis type 2 was advised but not performed. At 3 years of age, leg weakness with quadriceps atrophy led to neuroimaging and detection of multiple tumors, including bilateral vestibular schwannomas and cervical, thoracic, and lumbar paraspinal schwannomas. Molecular testing revealed a nonsense mutation in the neurofibromatosis type 2 gene. Bilateral combined hamartomas were the presenting feature of a severe phenotype of neurofibromatosis type 2.
J Pediatr Ophthalmol Strabismus 2014
PMID:Bilateral combined hamartomas of the retina and retinal pigment epithelium as the presenting feature of neurofibromatosis type 2 (Wishart Type). 2592 68

An 8-week-old healthy female infant manifested leukocoria and reduced vision in the left eye. She was found to have bilateral combined hamartomas of the retina and retinal pigment epithelium. There were no other features of neurofibromatosis type 2 and brain imaging was normal. At 6 months of age, subtle posterior subcapsular lens opacity was noted in the right eye. Genetic testing for neurofibromatosis type 2 was advised but not performed. At 3 years of age, leg weakness with quadriceps atrophy led to neuroimaging and detection of multiple tumors, including bilateral vestibular schwannomas and cervical, thoracic, and lumbar paraspinal schwannomas. Molecular testing revealed a nonsense mutation in the neurofibromatosis type 2 gene. Bilateral combined hamartomas were the presenting feature of a severe phenotype of neurofibromatosis type 2.
J Pediatr Ophthalmol Strabismus 2014 May 28
PMID:Bilateral Combined Hamartomas of the Retina and Retinal Pigment Epithelium as the Presenting Feature of Neurofibromatosis Type 2 (Wishart Type). 2690 Jul 6