Fundus Albipunctatus Associated with Biallelic LRAT Gene Mutation: A Case Report with Long-Term Follow-Up

• Published in: Journal of clinical medicine Vol. 12; no. 22; p. 6960
• Main Authors: Tan, Wendy D, Odom, J. Vernon, Leys, Monique
• Format: Journal Article
• Language: English
• Published: Basel MDPI AG 01-11-2023
• Subjects: Adaptation; Age; Algorithms; Case reports; Case studies; Clinical medicine; Congenital diseases; Diagnosis; Gene mutations; Genes; Genetic aspects; Genetic disorders; Genetic screening; Genetic testing; Genotype & phenotype; Health aspects; Medical colleges; Mutation; Night blindness; Proteins; Visual acuity; United States
• ISSN: 2077-0383; 2077-0383
• DOI: 10.3390/jcm12226960

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’s 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>A (p.Gly66Glu) and c.557A>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.