Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0028738 (nystagmus)
 7,431 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Klippel-Trenaunay-Weber syndrome is a rare phacomatosis of uncertain aetiology, variable expression, and disputed pathogenesis, whose cardinal signs are cutaneous angiomas, varicosities, tissue hypertrophy, and arteriovenous fistulae. The case reported herein is the first description of an unusual variant with limb and facial hemihypertrophy, congenital nystagmus, progressive ipsilateral anisomyopia, and strabismus. We review the ophthalmic findings and report the co-occurrence of hemimegalencephaly with congenital nystagmus and ipsilateral axial anisomyopia.
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PMID:Congenital nystagmus, anisomyopia, and hemimegalencephaly in the Klippel-Trenaunay-Weber syndrome. 185 Apr 61

A 13-year-old Romanian boy presented to the eye clinic with a chief complaint of blurred distance and near vision. The patient reported a history of a boil on his neck that was removed in Russia one year ago. Cover testing demonstrated bilateral end point nystagmus and exotropia. Ocular health evaluation revealed an astrocytic hamartoma and oculo-rotary nystagmus. Referral to a retinal specialist helped confirm the diagnosis of astrocytic hamartoma but did not elucidate on the possible aetiology of the lesion or rule out tuberous sclerosis as the causative agent, as the patient was lost to follow-up. Based on fundus signs along with the nystagmus, neuro-imaging studies are indicated to rule out any intracranial masses that may be present. The most important differential diagnosis that must excluded is retinoblastoma, which can closely resemble astrocytic hamartoma. The suspicion of tuberous sclerosis was also considered as a potential cause of the retinal lesion, based on clinical signs. The prognosis for astrocytic hamartomas is relatively good, although until tuberous sclerosis is ruled out, caution should be exercised and serial ophthalmic evaluations should continue.
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PMID:Astrocytic hamartoma: a case report. 1827 83