Autosomal recessive pericentral pigmentary retinopathy.
A brother and sister, born to consanguineous parents, had pigmentary retinopathy in a pericentral distribution. The retinopathy was noted in infancy when the siblings were examined for strabismus. The optic disks, maculae, and retinal vessels were normal. There was mild reduction in amplitude of both scotopic and photopic electroretinographic responses. Both patients had moderate hyperopic astigmatism and esotropia. The fundus and visual acuity remained unchanged over periods of nine and 13 years in the brother and sister, respectively. Results of ocular examinations on the father, mother, and an older sister were normal. These findings support an autosomal recessive mode of inheritance in this family with pericentral pigmentary retinopathy.
Traboulsi
E I
EI
Center for Sight, Georgetown University Medical Center, Washington, DC 20007.
O'Neill
J F
JF
Maumenee
I H
IH
D000293:Adolescent; D001284:Atrophy; D002648:Child; D002829:Choroid / Q000473:pathology; D004596:Electroretinography; D005260:Female; D005654:Fundus Oculi; D005808:Genes, Recessive; D006801:Humans; D008297:Male; D012160:Retina / Q000473:pathology; D012174:Retinitis Pigmentosa / Q000145:classification / Q000235:genetics* / Q000473:pathology