title: Autosomal recessive retinitis pigmentosa with preserved para-arteriolar retinal pigment epithelium.
abstract: Retinitis pigmentosa with preserved para-arteriolar retinal pigment epithelium is a rare form of retinitis pigmentosa that starts early in life with preservation of retinal pigment epithelium adjacent to and under the retinal arterioles and that has hitherto been described as an isolated form. We examined 22 patients from one large family, together with two isolated patients, and confirmed the presumed autosomal recessive mode of inheritance in this type of retinitis pigmentosa. New findings associated with retinitis pigmentosa with preserved para-arteriolar retinal pigment epithelium were asteroid hyalosis in four (17%) of 24 patients, tortuosity of retinal arterioles in 11 (46%) of 24 patients, peripheral regions of opacified vessels in eight (33%) of 24 patients, and preservation not only of the para-arteriolar pigment epithelium, but also of the peripheral retinal pigment epithelium in 13 (54%) of 24 patients. Previously reported signs present in these patients were nystagmus in six (25%) of 24 patients, hypermetropia in 23 (96%) of 24 patients, optic nerve head drusen in nine (38%) of 24 patients, vascular sheathing in 11 (46%) of 24 patients, maculopathy in all 24 patients (100%), yellow round deposits in the posterior pole in nine (38%) of 24 patients, exudates resembling those in Coats' disease in two (8%) of 24 patients, visual field defects in all 24 patients (100%), and nondeductible electroretinograms in 21 (91%) of 23 patients. Linkage analysis carried out in the large family resulted in the assignment of a gene for retinitis pigmentosa with preserved para-arteriolar retinal pigment epithelium to chromosome 1q31-q32.1.
authors.affiliation: Department of Ophthalmogenetics, The Netherlands Ophthalmic Research Institute, Amsterdam, The Netherlands.
authors.forename: L I
authors.initials: LI
authors.lastname: van den Born
authors.forename: S
authors.initials: S
authors.lastname: van Soest
authors.forename: M J
authors.initials: MJ
authors.lastname: van Schooneveld
authors.forename: F C
authors.initials: FC
authors.lastname: Riemslag
authors.forename: P T
authors.initials: PT
authors.lastname: de Jong
authors.forename: E M
authors.initials: EM
authors.lastname: Bleeker-Wagemakers
mesh_terms: D000293:Adolescent; D000328:Adult; D001160:Arterioles / Q000473:pathology; D002874:Chromosome Mapping; D002878:Chromosomes, Human, Pair 1; D004596:Electroretinography; D005260:Female; D005451:Fluorescein Angiography; D005654:Fundus Oculi; D008040:Genetic Linkage / Q000235:genetics; D006801:Humans; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D010857:Pigment Epithelium of Eye / Q000473:pathology*; D012161:Retinal Artery / Q000473:pathology*; D012174:Retinitis Pigmentosa / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D012189:Retrospective Studies; D014792:Visual Acuity