Background: Albinism causes significant eye morbidity and amblyopia in children. The aim of this study was to determine the refractive state in patients with complete oculocutaneous albinism who were treated at the Gynaeco-Obstetric and Paediatric Hospital, Yaoundé, Cameroon and evaluate its effect on vision.
Methods: We carried out this retrospective study at the ophthalmology unit of our hospital. All oculocutaneous albino patients who were treated between March 1, 2003 and December 31, 2011 were included.
Results: Thirty-five patients (70 eyes) diagnosed with complete oculocutaneous albinism were enrolled. Myopic astigmatism was the most common refractive error (40%). Compared with myopic patients, those with myopic astigmatism and hypermetropic astigmatism were four and ten times less likely, respectively, to demonstrate significant improvement in distance visual acuity following optical correction.
Conclusion: Managing refractive errors is an important way to reduce eye morbidity-associated low vision in oculocutaneous albino patients.
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http://dx.doi.org/10.2147/OPTH.S38194 | DOI Listing |
Animals (Basel)
September 2024
Istituto Zooprofilattico Sperimentale della Sardegna "G. Pegreffi", 07100 Sassari, Italy.
Mol Genet Genomic Med
July 2024
Deptartment of Biochemistry, Medical Sciences Campus, School of Medicine, University of Puerto Rico, San Juan, Puerto Rico.
Pigment Cell Melanoma Res
July 2024
Department of Dermatology, Faculty of Medicine, Yamagata University, Yamagata, Japan.
Hereditas
February 2024
Genetics and Prenatal Diagnosis Department, Luoyang Maternal and Child Health Hospital, Luoyang, China.
Background: Oculocutaneous albinism (OCA) is a group of rare genetic disorders characterized by a reduced or complete lack of melanin in the skin, hair, and eyes. Patients present with colorless retina, pale pink iris, and pupil, and fear of light. The skin, eyebrows, hair, and other body hair are white or yellowish-white.
View Article and Find Full Text PDFJ Biosci
January 2024
Centre for Cellular and Molecular Platforms (C-CAMP), GKVK Post, Bellary Road, Bengaluru 560065, India.
Oculocutaneous albinism (OCA) is characterized by reduced melanin biosynthesis affecting the retina, thus impairing visual function. The disease pathology of OCA is poorly understood at the cellular level due to unavailability of suitable biological model systems. This study aimed to develop a disease-specific model for OCA type 1A, the most severe form caused by (tyrosinase) gene mutations, using retinal pigment epithelium (RPE) differentiated from patient-derived human-induced pluripotent stem cells (hiPSCs).
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