Abstract:
: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.
journal_name
Am J Ophthalmoljournal_title
American journal of ophthalmologyauthors
Traboulsi EI,O'Neill JF,Maumenee IHdoi
10.1016/0002-9394(88)90584-3subject
Has Abstractpub_date
1988-11-15 00:00:00pages
551-6issue
5eissn
0002-9394issn
1879-1891pii
0002-9394(88)90584-3journal_volume
106pub_type
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