New genetic feature associated with fundus albipunctatus: case series of two Spanish children with LRAT gene mutation.
Anna Baldaquí-Baeza, Jesús Díaz-Cascajosa, Delia Yubero-Siles et al.
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Case in brief
Two Spanish children, aged 14 and 16, presented with nyctalopia and retinal findings consistent with fundus albipunctatus (FAP). Comprehensive ophthalmological assessments, including visual acuity and electroretinogram, were conducted. Genetic analysis revealed compound heterozygous pathogenic variants in the LRAT gene in both patients, despite their unrelatedness. The condition was managed with ongoing follow-up, highlighting the genetic basis of their symptoms.
What made this case unusual
Both patients exhibited the same compound heterozygous pathogenic variants in the LRAT gene, which is uncommon given their unrelated backgrounds.
Diagnostic / clinical pearl
Clinicians should consider LRAT gene mutations in cases of fundus albipunctatus, as they may present with similar retinal phenotypes despite low frequency.
Why it matters
This case underscores the importance of genetic testing in understanding the etiology of retinal disorders, particularly when clinical presentations overlap with known syndromes.