Optic Nerve Hypoplasia Associated with Porencephalia in a Girl and Retinitis pigmentosa in Her Sister

Abstract

An 18-year-old women (case II-4) had decreased visual acuity, visual-field defects and small optic disks bilaterally that remained unchanged for a follow-up period of 9 years. The patient also had an abnormal cavity within the cerebral hemispheres. Her 29-year-old sister (case II-1) had night blindness, bone corpuscle pigmentation in mottled retinas and nonrecordable electroretinographic responses bilaterally. We believe that the occurrence of optic nerve hypoplasia associated with porencephalia in one patient and retinitis pigmentosa in her eldest sister may be rare.