{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,13]],"date-time":"2026-08-13T19:34:59Z","timestamp":1786649699498,"version":"build-2736575974"},"reference-count":24,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"6","content-domain":{"domain":["lww.com","ovid.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2023,6]]},"abstract":"<jats:sec>\n                    <jats:title>Purpose:<\/jats:title>\n                    <jats:p>To describe the phenotypic variations in family members of patients with retinitis pigmentosa (RP) with different modes of inheritance and to assess the ocular abnormalities in RP families.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods:<\/jats:title>\n                    <jats:p>A descriptive analysis of three types of inheritance of RP was carried out, where 64 family members were examined at a tertiary eye care center, South India. They underwent comprehensive eye examination, fundus photography, fundus autofluorescence (FAF), full-field electroretinogram (FFERG), and spectral domain optical coherence tomography (SD-OCT). Analysis was performed between mild and severe forms of abnormalities to delineate retinal structural and functional defects in RP families.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results:<\/jats:title>\n                    <jats:p>The mean age was 38.55 \u00b1 17.95 years. Males were 48.4%. In autosomal recessive and X-linked recessive groups, 74.2% and 77.3%, respectively, were asymptomatic, whereas in autosomal dominant group, 27.3% were asymptomatic. The proportion of the cases with abnormalities in all three groups was higher on ERG (59.6%), followed by OCT (57.5%), visual acuity (43.7%), peripheral FAF (23.5%), and macular FAF (11.8%). However, these abnormalities and the clinical pictures of the family members had no statistical difference across the three groups of inheritance.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion:<\/jats:title>\n                    <jats:p>Structural and functional retinal alterations were noted in four out of five asymptomatic members, suggesting the need for careful screening of RP families and the pressing need for pre-test (genetic) counseling.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.4103\/ijo.ijo_1853_22","type":"journal-article","created":{"date-parts":[[2023,6,14]],"date-time":"2023-06-14T09:03:22Z","timestamp":1686733402000},"page":"2504-2511","update-policy":"https:\/\/doi.org\/10.1097\/lww.0000000000001000","source":"Crossref","is-referenced-by-count":3,"title":["Phenotypic heterogeneity in family members of patients with retinitis pigmentosa"],"prefix":"10.4103","volume":"71","author":[{"given":"Rajasekar Loheshwari","family":"Kuppuraj","sequence":"first","affiliation":[{"name":"Shri Bhagwan Mahavir Vitreoretinal Services, Sankara Nethralaya, Chennai, Tamil Nadu, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Neriyanuri","family":"Srividya","sequence":"additional","affiliation":[{"name":"Department of Optometry and Vision Sciences, The University of Melbourne, Victoria, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sathyaprasath","family":"Mathangi","sequence":"additional","affiliation":[{"name":"Shri Bhagwan Mahavir Vitreoretinal Services, Sankara Nethralaya, Chennai, Tamil Nadu, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Arunacahalam Jayamuruga","family":"Pandian","sequence":"additional","affiliation":[{"name":"Central Inter-Disciplinary Research Facility, Sri Balaji Vidyapeeth [Deemed to be University], SBV-Mahatma Gandhi Medical College and Research Institute Campus, Pondicherry, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Verma","family":"Adithya","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology and Visual Sciences, University of Louisville, KY, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Raman","family":"Rajiv","sequence":"additional","affiliation":[{"name":"Shri Bhagwan Mahavir Vitreoretinal Services, Sankara Nethralaya, Chennai, Tamil Nadu, India"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"276","published-online":{"date-parts":[[2023,6,14]]},"reference":[{"key":"R1-20251006","doi-asserted-by":"crossref","first-page":"40","DOI":"10.1186\/1750-1172-1-40","article-title":"Retinitis pigmentosa","volume":"1","author":"Hamel","year":"2006","journal-title":"Orphanet J Rare Dis"},{"key":"R2-20251006","doi-asserted-by":"crossref","first-page":"279","DOI":"10.1080\/09286580802105814","article-title":"Prevalence of retinitis pigmentosa in South Indian population aged above 40 years","volume":"15","author":"Sen","year":"2008","journal-title":"Ophthalmic Epidemiol"},{"key":"R3-20251006","doi-asserted-by":"crossref","first-page":"e649","DOI":"10.1111\/j.1755-3768.2012.02396.x","article-title":"Prevalence of retinitis pigmentosa in India:The Central India Eye and medical study","volume":"90","author":"Nangia","year":"2012","journal-title":"Acta Ophthalmol"},{"key":"R4-20251006","first-page":"1945","article-title":"Clinical study of prevalence of retinitis pigmentosa in tertiary care hospital","volume":"4","author":"Ravi Babu","year":"2017","journal-title":"Int J Contemp Med Res"},{"key":"R5-20251006","doi-asserted-by":"crossref","first-page":"5","DOI":"10.1016\/j.cccn.2004.08.004","article-title":"Gene mutations in retinitis pigmentosa and their clinical implications","volume":"351","author":"Wang","year":"2005","journal-title":"Clin Chim Acta"},{"key":"R6-20251006","doi-asserted-by":"crossref","first-page":"238","DOI":"10.2174\/138920211795860107","article-title":"Retinitis pigmentosa:Genes and disease mechanisms","volume":"12","author":"Ferrari","year":"2011","journal-title":"Curr Genomics"},{"key":"R7-20251006","doi-asserted-by":"crossref","first-page":"236","DOI":"10.2174\/138920211795860080","article-title":"Clinics, epidemiology and genetics of retinitis pigmentosa","volume":"12","author":"Parmeggiani","year":"2011","journal-title":"Curr Genomics"},{"key":"R8-20251006","doi-asserted-by":"crossref","first-page":"4065","DOI":"10.1167\/iovs.09-3479","article-title":"Genetic analysis of Indian families with autosomal recessive retinitis pigmentosa by homozygosity screening","volume":"50","author":"Singh","year":"2009","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"R9-20251006","doi-asserted-by":"crossref","first-page":"267","DOI":"10.2174\/138920211795860116","article-title":"Diagnostic challenges in retinitis pigmentosa:Genotypic multiplicity and phenotypic variability","volume":"12","author":"Chang","year":"2011","journal-title":"Curr Genomics"},{"key":"R10-20251006","doi-asserted-by":"crossref","first-page":"1567","DOI":"10.1126\/science.2884728","article-title":"Homozygosity mapping:A way to map human recessive traits with the DNA of inbred children","volume":"236","author":"Lander","year":"1987","journal-title":"Science"},{"key":"R11-20251006","doi-asserted-by":"crossref","first-page":"350","DOI":"10.2174\/138920212801619214","article-title":"Prospectives for gene therapy of retinal degenerations","volume":"13","author":"Thumann","year":"2012","journal-title":"Curr Genomics"},{"key":"R12-20251006","doi-asserted-by":"crossref","first-page":"793","DOI":"10.1001\/archopht.121.6.793","article-title":"Phenotype of retinitis pigmentosa associated with the Ser50Thr mutation in the NRL gene","volume":"121","author":"Bessant","year":"2003","journal-title":"Arch Ophthalmol"},{"key":"R13-20251006","doi-asserted-by":"crossref","first-page":"1014","DOI":"10.1080\/02713680802484645","article-title":"Phenotype-genotype correlations in autosomal dominant retinitis pigmentosa caused by RHO, D190N","volume":"33","author":"Tsui","year":"2008","journal-title":"Curr Eye Res"},{"key":"R14-20251006","doi-asserted-by":"crossref","first-page":"858","DOI":"10.1016\/j.ajo.2005.05.027","article-title":"Phenotypic characterization of a large family with RP10 autosomal-dominant retinitis pigmentosa:An Asp226Asn mutation in the IMPDH1 gene","volume":"140","author":"Kozma","year":"2005","journal-title":"Am J Ophthalmol"},{"key":"R15-20251006","doi-asserted-by":"crossref","first-page":"772","DOI":"10.1001\/archophthalmol.2010.98","article-title":"Phenotype associated with mutation in the recently identified autosomal dominant retinitis pigmentosa KLHL7 gene","volume":"128","author":"Hugosson","year":"2010","journal-title":"Arch Ophthalmol"},{"key":"R16-20251006","doi-asserted-by":"crossref","first-page":"9304","DOI":"10.1167\/iovs.11-8372","article-title":"Autosomal dominant retinitis pigmentosa with intrafamilial variability and incomplete penetrance in two families carrying mutations in PRPF8","volume":"52","author":"Maubaret","year":"2011","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"R17-20251006","doi-asserted-by":"crossref","first-page":"69","DOI":"10.1007\/s10633-008-9155-4","article-title":"ISCEV Standard for full-field clinical electroretinography (2008 update)","volume":"118","author":"Marmor","year":"2009","journal-title":"Doc Ophthalmol"},{"key":"R18-20251006","doi-asserted-by":"crossref","first-page":"449","DOI":"10.1136\/bjo.67.7.449","article-title":"A genetic analysis of retinitis pigmentosa","volume":"67","author":"Boughman","year":"1983","journal-title":"Br J Ophthalmol"},{"key":"R19-20251006","first-page":"189","article-title":"Clinical peculiarities in challenging cases of atypical retinitis pigmentosa:A case series and review of the literature","volume":"8","author":"Deshmukh","year":"2018","journal-title":"Adv Ophthalmol Vis Syst"},{"key":"R21-20251006","doi-asserted-by":"crossref","first-page":"237","DOI":"10.1007\/s10792-012-9678-2","article-title":"Grading severity in retinitis pigmentosa using clinical assessment, visual acuity, perimetry and optical coherence tomography","volume":"33","author":"Smith","year":"2013","journal-title":"Int Ophthalmol"},{"key":"R22-20251006","doi-asserted-by":"crossref","first-page":"101","DOI":"10.1167\/iovs.10-5799","article-title":"The transition zone between healthy and diseased retina in patients with retinitis pigmentosa","volume":"52","author":"Hood","year":"2011","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"R23-20251006","doi-asserted-by":"crossref","first-page":"687","DOI":"10.1016\/j.ajo.2007.11.018","article-title":"Association between abnormal autofluorescence and photoreceptor disorganization in retinitis pigmentosa","volume":"145","author":"Murakami","year":"2008","journal-title":"Am J Ophthalmol"},{"key":"R24-20251006","doi-asserted-by":"crossref","first-page":"735","DOI":"10.1016\/j.oret.2017.10.018","article-title":"Ultra-widefield fundus autofluorescence imaging of patients with retinitis pigmentosa:A standardized grading system in different genotypes","volume":"2","author":"Hariri","year":"2018","journal-title":"Ophthalmol Retina"},{"key":"R25-20251006","doi-asserted-by":"crossref","first-page":"7","DOI":"10.1080\/09286580500473795","article-title":"Consanguinity and eye diseases with a potential genetic etiology. Data from a prevalence study in Andhra Pradesh, India","volume":"13","author":"Nirmalan","year":"2006","journal-title":"Ophthalmic Epidemiol"}],"container-title":["Indian Journal of Ophthalmology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.ovid.com\/10.4103\/ijo.IJO_1853_22","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,8,13]],"date-time":"2026-08-13T18:57:17Z","timestamp":1786647437000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.ovid.com\/10.4103\/ijo.IJO_1853_22"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,6]]},"references-count":24,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2023]]}},"URL":"https:\/\/doi.org\/10.4103\/ijo.ijo_1853_22","relation":{},"ISSN":["0301-4738","1998-3689"],"issn-type":[{"value":"0301-4738","type":"print"},{"value":"1998-3689","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,6]]},"assertion":[{"value":"2022-07-29","name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-03-27","name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}}]}}