{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,7,30]],"date-time":"2025-07-30T12:12:01Z","timestamp":1753877521762,"version":"3.41.2"},"reference-count":10,"publisher":"Oxford University Press (OUP)","issue":"6","license":[{"start":{"date-parts":[[2024,6,9]],"date-time":"2024-06-09T00:00:00Z","timestamp":1717891200000},"content-version":"vor","delay-in-days":8,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2024,6,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>Pigmentary retinal dystrophy (PRD) is a group of inherited disorders involving the progressive degeneration of rod and cone photoreceptors and the retinal pigment epithelium (RPE), which can progress to pigmentary retinopathy (PR). We present a case of PRD in a female pediatric patient who has pathogenic variants in the PRPH2 and PEX1 genes. The patient has associated macular edema and secondary visual impairment. Treatment has included serial dexamethasone intravitreal implant injections and topical dorzolamide. The PEX1 gene mutation is associated with peroxisome biogenesis disorder-Zellweger syndrome spectrum (PBD-ZSS) and resulting retinal dystrophies. The PRPH2 mutation may play a role in macular edema and PRD, as it is implicated in macular degeneration, choroid defects, and photoreceptor dysfunction. In this case, we review multiple gene mutations playing potential etiologic roles for PRD and discuss care management.<\/jats:p>","DOI":"10.1093\/omcr\/omae067","type":"journal-article","created":{"date-parts":[[2024,6,9]],"date-time":"2024-06-09T14:06:02Z","timestamp":1717941962000},"source":"Crossref","is-referenced-by-count":0,"title":["Pigmentary retinal dystrophy associated with peroxisome biogenesis disorder-Zellweger syndrome spectrum"],"prefix":"10.1093","volume":"2024","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-0041-3839","authenticated-orcid":false,"given":"Henry","family":"Zou","sequence":"first","affiliation":[{"name":"Michigan State University College of Human Medicine , 15 Michigan St NE, Grand Rapids, MI 49503, United States"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2085-1975","authenticated-orcid":false,"given":"Liliya","family":"Sutherland","sequence":"additional","affiliation":[{"name":"Retina Specialists of Michigan , 15 Michigan St NE, Grand Rapids, MI 49503, United States"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1380-6201","authenticated-orcid":false,"given":"Brooke","family":"Geddie","sequence":"additional","affiliation":[{"name":"Pediatric Ophthalmology, Helen DeVos Children\u2019s Hospital , 15 Michigan St NE, Grand Rapids, MI 49503, United States"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"286","published-online":{"date-parts":[[2024,6,7]]},"reference":[{"key":"2024060914021753200_ref1","doi-asserted-by":"crossref","first-page":"181","DOI":"10.1186\/s12886-019-1169-z","article-title":"Systematic review and meta-synthesis of coping with retinitis pigmentosa: implications for improving quality of life","volume":"19","author":"Garip","year":"2019","journal-title":"BMC Ophthalmol"},{"key":"2024060914021753200_ref2","doi-asserted-by":"crossref","first-page":"e601","DOI":"10.1111\/aos.13981","article-title":"Unilateral pigmentary retinopathy: a retrospective case series","volume":"97","author":"Errera","year":"2019","journal-title":"Acta Ophthalmol"},{"key":"2024060914021753200_ref3","first-page":"47","article-title":"Unilateral pigmentary retinopathy\u2014a review of literature and case presentation","volume":"60","author":"Stamate","year":"2016","journal-title":"Rom J Ophthalmol"},{"key":"2024060914021753200_ref4","doi-asserted-by":"crossref","first-page":"1101","DOI":"10.1016\/S0161-6420(99)90244-0","article-title":"Pigmentary retinal dystrophy and the syndrome of maternally inherited diabetes and deafness caused by the mitochondrial DNA 3243 tRNA(Leu) A to G mutation","volume":"106","author":"Smith","year":"1999","journal-title":"Ophthalmology"},{"key":"2024060914021753200_ref5","doi-asserted-by":"crossref","first-page":"4824","DOI":"10.1038\/s41598-018-22096-0","article-title":"Clinical and genetic characteristics of 251 consecutive patients with macular and cone\/cone-rod dystrophy","volume":"8","author":"Birtel","year":"2018","journal-title":"Sci Rep"},{"key":"2024060914021753200_ref6","doi-asserted-by":"crossref","first-page":"e46","DOI":"10.1097\/IAE.0000000000003174","article-title":"Visual impairment in retinitis pigmentosa: erratum","volume":"41","author":"Vezinaw","year":"2021","journal-title":"Retina"},{"key":"2024060914021753200_ref7","first-page":"139","article-title":"Retinal dystrophies, genomic applications in diagnosis and prospects for therapy","volume":"4","author":"Nash","year":"2015","journal-title":"Transl Pediatr"},{"key":"2024060914021753200_ref8","doi-asserted-by":"crossref","first-page":"313","DOI":"10.1016\/j.ymgme.2015.12.009","article-title":"Peroxisome biogenesis disorders in the Zellweger spectrum: An overview of current diagnosis, clinical manifestations, and treatment guidelines","volume":"117","author":"Braverman","year":"2016","journal-title":"Mol Genet Metab"},{"key":"2024060914021753200_ref9","doi-asserted-by":"crossref","first-page":"69","DOI":"10.1002\/ajmg.1320240109","article-title":"Zellweger syndrome: Diagnostic assays, syndrome delineation, and potential therapy","volume":"24","author":"Wilson","year":"1986","journal-title":"Am J Med Genet"},{"key":"2024060914021753200_ref10","doi-asserted-by":"crossref","first-page":"47","DOI":"10.1016\/j.preteyeres.2015.12.002","article-title":"PRPH2\/RDS and ROM-1: Historical context, current views and future considerations","volume":"52","author":"Stuck","year":"2016","journal-title":"Prog Retin Eye Res"}],"container-title":["Oxford Medical Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/academic.oup.com\/omcr\/article-pdf\/2024\/6\/omae067\/58161731\/omae067.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/omcr\/article-pdf\/2024\/6\/omae067\/58161731\/omae067.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,6,9]],"date-time":"2024-06-09T14:06:10Z","timestamp":1717941970000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/omcr\/article\/doi\/10.1093\/omcr\/omae067\/7689276"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,6,1]]},"references-count":10,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2024,6,1]]}},"URL":"https:\/\/doi.org\/10.1093\/omcr\/omae067","relation":{},"ISSN":["2053-8855"],"issn-type":[{"type":"electronic","value":"2053-8855"}],"subject":[],"published-other":{"date-parts":[[2024,6]]},"published":{"date-parts":[[2024,6,1]]},"article-number":"omae067"}}