Color vision in patients with the Hermansky-Pudlak syndrome.
OBJECTIVE
To study color vision in patients with oculocutaneous albinism (OCA) METHODS: We evaluated color vision in 42 patients with OCA using the HRR color plates. Sixty seven percent of the patients had the Hermansky-Pudlak syndrome (HPS), diagnosed genetically or clinically. The remaining patients had unknown mutations leading to OCA.


RESULTS
47.6 % of patients of OCA of all types included had a color vision defect. Of these, 55% were female and 45% were male patients. 50% of patients with the HPS (all types) had a color vision deficit. 42.9% of patients with OCA of unknown type had color weakness. 57.1% had normal color vision.


CONCLUSIONS
Results suggest that many patients with OCA and the HPS have a mild red-green color perception deficiency that is not a sex linked trait. The prevalence of color vision deficits in our study population increased with decreasing visual acuity.
Rodríguez
Julio A
JA
Department of Ophthalmology, Medical Sciences Campus, University of Puerto Rico, San Juan, Puerto Rico.
Blasini
Marino
M
Blasini
Marino
M
Townsend
William
W
Izquierdo
Natalio J
NJ
D000293:Adolescent; D000328:Adult; D016115:Albinism, Oculocutaneous / Q000145:classification / Q000150:complications / Q000503:physiopathology; D002352:Carrier Proteins / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D003118:Color Perception / Q000235:genetics; D003117:Color Vision Defects / Q000453:epidemiology / Q000209:etiology* / Q000235:genetics; D005260:Female; D018740:Genetic Heterogeneity; D005838:Genotype; D022861:Hermanski-Pudlak Syndrome / Q000145:classification / Q000150:complications* / Q000235:genetics / Q000503:physiopathology; D006801:Humans; D015994:Incidence; D047908:Intracellular Signaling Peptides and Proteins; D008297:Male; D008565:Membrane Proteins / Q000235:genetics; D008875:Middle Aged; D010641:Phenotype; D011446:Prospective Studies; D014792:Visual Acuity
D002352:Carrier Proteins; C102160:HPS1 protein, human; C432680:HPS3 protein, human; D047908:Intracellular Signaling Peptides and Proteins; D008565:Membrane Proteins