Results 71 to 80 of about 4,797 (115)
The study sought to investigate the psychosocial implications of oculocutaneous albinism (OCA) among members of the Manicaland Albino Association in Mutare urban.
Mutasa, Fungai L.
core
ABSTRACT Colour polytypism represents an example of phenotypic diversification shaped by genetic divergence and ecological pressures. Poison frogs of the genus Oophaga (Dendrobatidae) are highly polytypic in coloration, making them an ideal system for investigating the genetic and physiological basis of colour variation.
Vasiliki Mantzana‐Oikonomaki +7 more
wiley +1 more source
Distribution of oculocutaneous albinism in Zimbabwe.
A survey of 1.3 million schoolchildren in Zimbabwe identified a total of 278 pupils with oculocutaneous albinism (OCA), giving a prevalence of 1 in 4728. Pupils with OCA were identified in every province of the country, but the distribution was not even.
Lund, Patricia M.
core +1 more source
Malignant transformation of actinic keratoses to squamous cell carcinoma in an albino
A 25-year-old male, who was a known case of oculocutaneous albinism presented to us with right inguinal swellings of six months′ duration.
Ramalingam Vijaya +2 more
doaj
A new syndrome presenting with dysmorphic facies, oculocutaneous albinism, glaucoma, cryptorchidism and mental retardation: We report a case with a new syndrome that presents with glaucoma, cryptorchidism, oculocutaneous albinism, ataxia, hypotonia ...
Seven, Mehmet +5 more
core +1 more source
Hermansky-Pudlak syndrome: A case report
Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder, which results in oculocutaneous albinism, bleeding disorders, and storage of abnormal fat protein compound (liposomal accumulation of ceroid lipofuscin).
R Vani, S Keertihvasan, K Anbananthan
doaj +1 more source
Effectiveness of refractive error correction for people with oculocutaneous albinism in Nepal
Background: Albinism is commonly associated with high refractive errors, but some clinicians are reluctant to prescribe glasses because reduced vision persists due to additional non-refractive visual problems.
Arjun M Bhari
doaj +1 more source
Background: oculocutaneous albinism (OCA) is a hereditary impairment of skin, hair, and eye pigmentation. The most common form of albinism is autosomal recessive albinism, caused by mutations in the TYR gene, accounting for approximately 40–50% of all ...
Olga Shchagina +11 more
doaj +1 more source
Chédiak-Higashi syndrome: presentation of seven cases
CONTEXT: Chédiak-Higashi Syndrome (CHS) is a rare autosomal recessive disease characterized by recurrent infections, giant cytoplasmic granules, and oculocutaneous albinism.
Eugénia Maria Grilo Carnide +5 more
doaj +1 more source
Two Cases of Foveal Hypoplasia with Different Etiologies
In this report the optical coherence tomography (OCT) findings of 2 patients with foveal hypoplasia are presented. One patient had oculocutaneous albinism, which is a frequent cause of foveal hypoplasia, and had decreased visual acuity in both eyes.
Abdullah Ozkaya, Hatice Nur Tarakcioglu
doaj +1 more source

