{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,2]],"date-time":"2026-05-02T10:53:41Z","timestamp":1777719221633,"version":"3.51.4"},"reference-count":19,"publisher":"MDPI AG","issue":"22","license":[{"start":{"date-parts":[[2023,11,7]],"date-time":"2023-11-07T00:00:00Z","timestamp":1699315200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["JCM"],"abstract":"<jats:p>This case report presents a 26-year-old female patient diagnosed with fundus albipunctatus (FAP), a rare form of congenital stationary night blindness. The patient\u2019s clinical history and retinal findings spanning 23 years are consistent with FAP. The patient has profound night blindness, photophobia, and mild color vision changes with preserved best-corrected visual acuity (BCVA). Small white dots are present throughout the fundus, sparing the central macula. Electroretinograms (ERG) are consistent with congenital stationary night blindness (CSNB) and suggest a lack of rod response. Ophthalmic imaging has remained stable over time. Genetic testing revealed two biallelic missense mutations in the LRAT gene, c.197G&gt;A (p.Gly66Glu) and c.557A&gt;C (p.Lys186Thr). LRAT mutations are known to contribute to other retinal conditions but have not been previously associated with FAP. While there are currently no available treatments for FAP, this report expands our understanding of the genetic landscape of FAP to include LRAT and provides clinical data to support this finding.<\/jats:p>","DOI":"10.3390\/jcm12226960","type":"journal-article","created":{"date-parts":[[2023,11,7]],"date-time":"2023-11-07T11:25:31Z","timestamp":1699356331000},"page":"6960","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["Fundus Albipunctatus Associated with Biallelic LRAT Gene Mutation: A Case Report with Long-Term Follow-Up"],"prefix":"10.3390","volume":"12","author":[{"given":"Wendy D.","family":"Tan","sequence":"first","affiliation":[{"name":"Department of Ophthalmology and Visual Sciences, West Virginia University School of Medicine, Morgantown, WV 26506, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J. Vernon","family":"Odom","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology and Visual Sciences, West Virginia University School of Medicine, Morgantown, WV 26506, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1288-1824","authenticated-orcid":false,"given":"Monique","family":"Leys","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology and Visual Sciences, West Virginia University School of Medicine, Morgantown, WV 26506, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2023,11,7]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"188","DOI":"10.1038\/9707","article-title":"Mutations in the gene encoding 11-cis retinol dehydrogenase cause delayed dark adaptation and Fundus albipunctatus","volume":"22","author":"Yamamoto","year":"1999","journal-title":"Nat. Genet."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"424","DOI":"10.1034\/j.1399-0004.2001.590607.x","article-title":"Fundus albipunctatus and retinitis punctata albescens in a pedigree with an R150Q mutation in RLBP1","volume":"59","author":"Katsanis","year":"2001","journal-title":"Clin. Genet."},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"1661","DOI":"10.1016\/j.ophtha.2010.12.031","article-title":"Phenotypic variability in RDH5 retinopathy (Fundus albipunctatus)","volume":"118","author":"Sergouniotis","year":"2011","journal-title":"Ophthalmology"},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"888","DOI":"10.1016\/j.ophtha.2010.09.005","article-title":"Fundus albipunctatus Associated with Compound Heterozygous Mutations in RPE65","volume":"118","author":"Schatz","year":"2011","journal-title":"Ophthalmology"},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"535","DOI":"10.1016\/j.oret.2019.02.008","article-title":"RPE65-Mutation Associated Fundus albipunctatus with Cone Dystrophy","volume":"3","author":"Ramtohul","year":"2019","journal-title":"Ophthalmol. Retin."},{"key":"ref_6","doi-asserted-by":"crossref","unstructured":"Puech, B., De Laey, J.-J., and Holder, G.E. (2014). Inherited Chorioretinal Dystrophies: A Textbook and Atlas, Springer.","DOI":"10.1007\/978-3-540-69466-3"},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"4275","DOI":"10.1128\/MCB.20.12.4275-4287.2000","article-title":"Disruption of the 11-cis-retinol dehydrogenase gene leads to accumulation of cis-retinols and cis-retinyl esters","volume":"20","author":"Driessen","year":"2000","journal-title":"Mol. Cell Biol."},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"32456","DOI":"10.1074\/jbc.M104949200","article-title":"Characterization of a dehydrogenase activity responsible for oxidation of 11-cis-retinol in the retinal pigment epithelium of mice with a disrupted RDH5 gene, a model for the human hereditary disease Fundus albipunctatus","volume":"276","author":"Jang","year":"2001","journal-title":"J. Biol. Chem."},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"3927","DOI":"10.1167\/iovs.12-9548","article-title":"Early Onset Retinal Dystrophy Due to Mutations in LRAT: Molecular Analysis and Detailed Phenotypic Study","volume":"53","author":"Ocaka","year":"2012","journal-title":"Investig. Ophthalmol. Vis. Sci."},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"5690","DOI":"10.1167\/iovs.07-0610","article-title":"Identification of Novel Mutations in Patients with Leber Congenital Amaurosis and Juvenile RP by Genome-wide Homozygosity Mapping with SNP Microarrays","volume":"48","author":"Lopez","year":"2007","journal-title":"Investig. Ophthalmol. Vis. Sci."},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"1899","DOI":"10.1016\/j.ophtha.2012.02.037","article-title":"A homozygous frameshift mutation in LRAT causes retinitis punctata albescens","volume":"119","author":"Littink","year":"2012","journal-title":"Ophthalmology"},{"key":"ref_12","unstructured":"Hyv\u00e4rinen, L., and Jacob, N. (2011). What and How Does This Child See?: Assessment of Visual Functioning for Development and Learning, Vistest Ltd."},{"key":"ref_13","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":"ref_14","doi-asserted-by":"crossref","first-page":"D1062","DOI":"10.1093\/nar\/gkx1153","article-title":"ClinVar: Improving access to variant interpretations and supporting evidence","volume":"46","author":"Landrum","year":"2018","journal-title":"Nucleic Acids Res."},{"key":"ref_15","first-page":"3925","article-title":"A high association with cone dystrophy in Fundus albipunctatus caused by mutations of the RDH5 gene","volume":"41","author":"Nakamura","year":"2000","journal-title":"Investig. Ophthalmol. Vis. Sci."},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"380","DOI":"10.1016\/S0161-6420(90)32577-0","article-title":"Long-term follow-up of the physiologic abnormalities and fundus changes in Fundus albipunctatus","volume":"97","author":"Marmor","year":"1990","journal-title":"Ophthalmology"},{"key":"ref_17","doi-asserted-by":"crossref","unstructured":"Scholl, H.P., Moore, A.T., Koenekoop, R.K., Wen, Y., Fishman, G.A., van den Born, L.I., Bittner, A., Bowles, K., Fletcher, E.C., and Collison, F.T. (2015). Safety and Proof-of-Concept Study of Oral QLT091001 in Retinitis Pigmentosa Due to Inherited Deficiencies of Retinal Pigment Epithelial 65 Protein (RPE65) or Lecithin:Retinol Acyltransferase (LRAT). PLoS ONE, 10.","DOI":"10.1371\/journal.pone.0143846"},{"key":"ref_18","doi-asserted-by":"crossref","first-page":"1513","DOI":"10.1016\/S0140-6736(14)60153-7","article-title":"Oral 9-cis retinoid for childhood blindness due to Leber congenital amaurosis caused by RPE65 or LRAT mutations: An open-label phase 1b trial","volume":"384","author":"Koenekoop","year":"2014","journal-title":"Lancet"},{"key":"ref_19","first-page":"43","article-title":"56th Annual Symposium of the International Society for Clinical Electrophysiology of Vision (ISCEV 2018)","volume":"136","author":"Leys","year":"2018","journal-title":"Doc Ophthalmol"}],"container-title":["Journal of Clinical Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2077-0383\/12\/22\/6960\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,10]],"date-time":"2025-10-10T21:18:35Z","timestamp":1760131115000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2077-0383\/12\/22\/6960"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,11,7]]},"references-count":19,"journal-issue":{"issue":"22","published-online":{"date-parts":[[2023,11]]}},"alternative-id":["jcm12226960"],"URL":"https:\/\/doi.org\/10.3390\/jcm12226960","relation":{},"ISSN":["2077-0383"],"issn-type":[{"value":"2077-0383","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,11,7]]}}}