Results 51 to 60 of about 3,749 (193)
Oculocutaneous albinism with iridofundal coloboma [PDF]
BMJ Case Reports, 2018 A 20-year-old woman presented to the retina clinic with complaints of diminution of vision, photophobia and involuntary movement of both eyes since birth. The patient had light-coloured skin complexion along with golden hair. Best corrected visual acuity was 1/60 and 4/60 in the right and left eyes, respectively.
Gunjan Saluja +3 more
openaire +2 more sources
Journal of Experimental Zoology Part A: Ecological and Integrative Physiology, Volume 345, Issue 5, Page 486-497, June 2026.ABSTRACT Across the animal kingdom, social behaviors such as aggression are critical for survival and reproductive success. While there is significant variation in social behaviors within and between species, the genetic mechanisms underlying natural variation in social behaviors are poorly understood.
Renee Mapa +5 more
wiley +1 more source
Biomedical Papers, 2015 Background: Chromosomal duplications involving 17p13.3 have recently been defined as a new distinctive syndrome with several diagnosed patients. Some variation is known to occur in the breakpoints of the duplicated region and, consequently, in the ...
Marzena Kucharczyk +6 more
doaj +1 more source
Bilateral atypical lamellar holes in a patient with oculocutaneous albinism
, 2020 Albinism can present with a wide range of ophthalmic findings and variable expressivity. With the use of optical coherence tomography, there has been increasing awareness of the variability of macular findings in this condition.
Acon, Dhariana +6 more
core +1 more source
Public Health Challenges, Volume 5, Issue 2, June 2026.Persons with albinism in this study have inadequate knowledge regarding climate change, self‐reported eye and skin conditions, and utilize insufficient protection strategies. Although they adopt various strategies to cope with climate change effects, these are insufficient for their full protection.
Botha Nkosi Nkosi +4 more
wiley +1 more source
Dermatoscopy of pigmented melanocytic nevi in patients with oculocutaneous albinism
, 2009 Oculocutaneous albinism is a group of rare inherited disorders of pigmentation. Some albinos may have a certain degree of melanin production and, consequently, may develop pigmented lesions during their lives.
ZALAUDEK, IRIS
core +2 more sources
Pregnancy, Volume 2, Issue 3, May 2026.Abstract Carrier screening for genetic conditions performed preconception or during pregnancy allows identification of fetal risk for inherited autosomal recessive and X‐linked conditions. The goal is to identify at‐risk patients/couples and offer them reproductive options such as preimplantation genetic diagnosis, prenatal testing, or targeted newborn
Emily B. Rosenfeld +5 more
wiley +1 more source
Children with albinism in African regions: their rights to ‘being’ and ‘doing’
BMC International Health and Human Rights, 2018 Background Albinism is an inherited condition with a relatively high prevalence in populations throughout sub-Saharan Africa. People with oculocutaneous albinism have little or no pigment in their hair, skin and eyes; thus they are visually impaired and ...
Anita Franklin +3 more
doaj +1 more source
Congenital aniridia: European COST action ANIRIDIA‐NET guidelines for diagnosis, management and care
Acta Ophthalmologica, Volume 104, Issue 3, Page 267-279, May 2026.Abstract Congenital aniridia is a rare ocular disorder affecting the majority of eye structures and can be associated with systemic manifestations. The main visible phenotypic characteristic is the partial or complete absence of the iris; however, foveal hypoplasia is a more frequent and reliable clinical sign. Other ocular comorbidities are associated
Davide Romano +26 more
wiley +1 more source
A nonsense mutation in the tyrosinase gene causes albinism in water buffalo
BMC Genetics, 2012 Background Oculocutaneous albinism (OCA) is an autosomal recessive hereditary pigmentation disorder affecting humans and several other animal species. Oculocutaneous albinism was studied in a herd of Murrah buffalo to determine the clinical presentation ...
Damé Maria Cecília +6 more
doaj +1 more source