Novel heterozygous PRPH2 variant identified in a patient with spinocerebellar ataxia type 14 and macular dystrophy

• Published in: Ophthalmic genetics Vol. 45; no. 4; pp. 1 - 412
• Main Authors: Chen, Tugche S, Sheri, Narin, Ehmann, David S, Benson, Matthew D
• Format: Journal Article
• Language: English
• Published: England 03-07-2024
• Subjects: PRKCG; spinocerebellar ataxia type 14; pattern dystrophy; PRPH2; Macular dystrophy
• ISSN: 1381-6810; 1744-5094; 1744-5094
• DOI: 10.1080/13816810.2024.2321883

To report on a patient with spinocerebellar ataxia type 14 (SCA14) and macular dystrophy with identification of a novel
variant.
Case report.
A 63-year-old female with molecularly confirmed SCA14 presented with symmetric pigmentary disturbances in a perifoveal distribution resembling a pattern macular dystrophy. She had no history of using medications with recognized toxic macular effects. Subsequent genetic testing confirmed a novel heterozygous missense variant of unknown significance in
(
: c.694 G>A, p.(Ala232Thr)).
To our knowledge, this is the first case of macular dystrophy identified in a patient with SCA14. While it is possible that the macular dystrophy observed in this patient might be an under-reported phenotype associated with SCA14, the pattern of macular changes is consistent with
-related disorders. The identified missense variant is predicted to be damaging by most in silico models, and the residue is highly conserved, adding support to a dual genetic diagnosis in this case.