{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,26]],"date-time":"2026-08-26T13:18:53Z","timestamp":1787750333715,"version":"build-2784847793"},"reference-count":12,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"2","license":[{"start":{"date-parts":[[2026,5,1]],"date-time":"2026-05-01T00:00:00Z","timestamp":1777593600000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0"}],"content-domain":{"domain":["lww.com","ovid.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2026,5]]},"abstract":"<jats:title>Abstract:<\/jats:title>\n                  <jats:p>Rod-cone dystrophy (RCD) is an inherited retinal disorder primarily affecting rod photoreceptors, followed by cone degeneration. We present the case of a 26-year-old male with RCD and multiple systemic abnormalities (atrial septal defect, hypogonadism, liver disease with gastric varices, hypertriglyceredemia, hypothyroidism, adrenal insufficiency, and delayed epiphyseal closure) in the same individual. Ophthalmic evaluation revealed retinal pigment epithelial atrophy, bone spicule pigmentation, a macular hole in the right eye, and an epiretinal membrane in the left. Genetic testing identified a heterozygous ABCA4 c.3113C&gt;T (p.Ala1038Val) mutation, previously associated with retinal dystrophies. We postulate that this case represents a unique blended phenotype, i.e., retinal disease due to ABCA4 and multiple systemic issues due to an unidentified syndrome.<\/jats:p>","DOI":"10.4103\/ojo.ojo_134_25","type":"journal-article","created":{"date-parts":[[2026,6,24]],"date-time":"2026-06-24T02:00:19Z","timestamp":1782266419000},"page":"267-270","update-policy":"https:\/\/doi.org\/10.1097\/lww.0000000000001000","source":"Crossref","is-referenced-by-count":0,"title":["Rod-cone dystrophy with myriad systemic manifestations"],"prefix":"10.4103","volume":"19","author":[{"given":"Goudappa","family":"Patil","sequence":"first","affiliation":[{"name":"Department of Ophthalmology, All India Institute of Medical Sciences, Mangalagiri, Andhra Pradesh, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Premika","family":"Pandarasamy","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, All India Institute of Medical Sciences, Mangalagiri, Andhra Pradesh, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"N. V. S. Krishna","family":"Reddy","sequence":"additional","affiliation":[{"name":"Department of Endocrinology, All India Institute of Medical Sciences, Mangalagiri, Andhra Pradesh, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pratyusha","family":"Ganne","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, All India Institute of Medical Sciences, Mangalagiri, Andhra Pradesh, India"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"276","published-online":{"date-parts":[[2026,6,24]]},"reference":[{"key":"R1-20260624","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":"R2-20260624","doi-asserted-by":"crossref","first-page":"e156154","DOI":"10.1172\/jci.insight.156154","article-title":"A 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diseases","volume":"58","author":"Trezza","year":"2017","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"R9-20260624","first-page":"573","article-title":"The role of the photoreceptor ABC transporter ABCA4 in lipid transport and Stargardt macular degeneration","author":"Molday","year":"1791","journal-title":"Biochim Biophys Acta 2009"},{"key":"R10-20260624","doi-asserted-by":"crossref","first-page":"1241","DOI":"10.3390\/genes12081241","article-title":"An overview of the genetics of ABCA4 retinopathies, an evolving story","volume":"12","author":"Al-Khuzaei","year":"2021","journal-title":"Genes (Basel)"},{"key":"R12-20260624","first-page":"e48489","article-title":"A new variant in the PRPF6 gene leading to retinitis pigmentosa: A case report","volume":"15","author":"Ruiz-Justiz","year":"2023","journal-title":"Cureus"},{"key":"R13-20260624","doi-asserted-by":"crossref","first-page":"504","DOI":"10.1001\/archopht.117.4.504","article-title":"Variation of clinical expression in patients with Stargardt dystrophy and sequence variations in the ABCR gene","volume":"117","author":"Fishman","year":"1999","journal-title":"Arch Ophthalmol"}],"container-title":["Oman Journal of 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