Evident hypopigmentation without other ocular deficits in Dutch patients with oculocutaneous albinism type 4
نویسندگان
چکیده
منابع مشابه
Visual deficits in Nepalese patients with oculocutaneous albinism.
BACKGROUND Albinism poses a significant threat to visual functions and causes remarkable ocular morbidity often resulting in visual disabilities. The study aimed at describing the visual status in patients with diagnosed cases of complete oculocutaneous albinism (OCA) attending to a tertiary eye hospital in Nepal. METHODS This was a cross-sectional descriptive hospital-based study of all diag...
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 کاملA Japanese Family With Autosomal Dominant Oculocutaneous Albinism Type 4.
Purpose We report the clinical characteristics of a Japanese family with autosomal dominant oculocutaneous albinism and a SLC45A2 gene mutation. Methods A total of 16 members of a Japanese family with general hypopigmentation and foveal hypoplasia underwent detailed clinical examinations. We evaluated the severity of foveal hypoplasia using spectral-domain optical coherence tomography (SD-OCT...
متن کاملOculocutaneous 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 کاملMalignant Skin Tumors in Patients with Oculocutaneous Albinism
Background: Patients with oculocutaneous albinism (OCA) are prone to develop skin cancers. Aim and Objectives: To analyze reports of skin cancers in albinos published in the English and the Japanese literature in order to prepare guidelines for the successful management of skin cancer in albinos. Methods and Materials: We searched on PubMed, Web of Knowledge for English literature, and Ichushi-...
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ژورنال
عنوان ژورنال: Scientific Reports
سال: 2021
ISSN: 2045-2322
DOI: 10.1038/s41598-021-90896-y