Leopard spot retinal pigmentation in infancy indicating a peroxisomal disorder
نویسندگان
چکیده
منابع مشابه
Leopard spot retinal pigmentation in infancy indicating a peroxisomal disorder.
BACKGROUND Neonatal adrenoleucodystrophy (NALD) is a rare disorder resulting from abnormal peroxisomal biogenesis. Affected patients present in infancy with developmental delay, hypotonia, and seizures. Blindness and nystagmus are prominent features. The authors suggest a characteristic leopard spot pigmentary pattern in the peripheral retina to be diagnostic. METHODS Three patients are repor...
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متن کاملSegmental pigmentation disorder: A rare form of cutaneous dyspigmentation
BACKGROUND Segmental pigmentation disorder (SegPD) is a rare type of cutaneous dyspigmentation. This hereditary disorder, first described some 20 years ago, is characterized by hypo and hyperpigmented patches on the trunk, extremities and less likely on the face and neck. These lesions are considered as a type of checkerboard pattern. CASE PRESENTATION Herein, we present a 26-year-old male wh...
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ژورنال
عنوان ژورنال: British Journal of Ophthalmology
سال: 2004
ISSN: 0007-1161
DOI: 10.1136/bjo.2003.023010