A Case of Oculocutaneous Albinism with Horizontal Pendular Nystagmus
نویسندگان
چکیده
منابع مشابه
Oculocutaneous albinism
Oculocutaneous albinism (OCA) is a group of inherited disorders of melanin biosynthesis characterized by a generalized reduction in pigmentation of hair, skin and eyes. The prevalence of all forms of albinism varies considerably worldwide and has been estimated at approximately 1/17,000, suggesting that about 1 in 70 people carry a gene for OCA. The clinical spectrum of OCA ranges, with OCA1A b...
متن کاملOculocutaneous albinism type 2
Oculocutaneous albinism represents a group of inherited skin disorders characterized by a generalized reduction of cutaneous, ocular, and pilar pigmentation from the time of birth. Oculocutaneous albinism types I and II are the most common, with several other types described. A defect in the melanin synthesis pathway, resulting in reduced formation of melanin, is responsible for oculocutaneous ...
متن کاملDiagnosing children presenting with asymmetric pendular nystagmus.
Horizontal asymmetric nystagmus usually occurs in one of three situations: secondary to an intracranial lesion, with monocular visual loss, or as part of the triad that constitutes the diagnosis of spasmus nutans (asymmetric nystagmus, abnormal head posture, head shake). Clinical records of 277 children, presenting with congenital nystagmus over an 8-year period were reviewed. Nystagmus was asy...
متن کامل[Familiar case of granular dystrophy and oculocutaneous albinism].
CLINICAL CASE A 35-year-old female patient with blurred vision since childhood, for which no treatment had been given, presented with poor visual acuity. She had white skin and fair yellow hair. There were several well circumscribed deposits in the central and anterior corneal stroma, and iris transillumination and foveal hypoplasia were evident. The clinical diagnosis was oculo-cutaneous albin...
متن کاملImprovement of acquired pendular nystagmus by gabapentin: case report.
Acquired Pendular Nystagmus (APN) may cause distressing visual symptoms in patients who are already suffering a severe general disease. Averbuch-Heller et al. conducted the first double-blind controlled study on treatment for APN. They showed that gabapentin substantially reduces pendular nystagmus and significantly increases visual acuity in the majority of patients. We present a patient with ...
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ژورنال
عنوان ژورنال: Practica Oto-Rhino-Laryngologica
سال: 1984
ISSN: 1884-4545,0032-6313
DOI: 10.5631/jibirin.77.2special_672