Novel mutation in a case of TTLL5-associated cone dystrophy with a characteristic ‘solar flare’ sign
Year: 2026
Type: article
Study design: Case Report
Abstract: BACKGROUND/PURPOSE: TTLL5-associated retinal dystrophy is a rare inherited retinopathy with a limited number of reported cases. We report a novel homozygous frameshift mutation in TTLL5 causing adult-onset cone-rod dystrophy, expanding the known clinical and mutational spectrum of this condition. METHODS: Retrospective case report utilizing multimodal longitudinal imaging, clinical examination, and molecular genetic testing in a single patient. RESULTS: A 49-year-old male presented with progressive visual decline over 4 years. Multimodal imaging demonstrated parafoveal ellipsoid zone loss consistent with a cone-rod dystrophy pattern. Genetic testing identified a novel homozygous TTLL5 frameshift mutation (c.2429del, p.Lys810Argfs*35) localized within the cofactor interaction domain. CONCLUSIONS: This case expands the clinical spectrum of TTLL5-related retinopathies and underscores the utility of genetic testing and multimodal imaging in the diagnosis of inherited retinal diseases.
Source: Ophthalmic Genetics
Authors: Blake G. Archer, Cecinio C. Ronquillo
Institution: University of Houston
Language: English
Subfield: Molecular Biology
Domain: Life Sciences
Open Access status: hybrid
OpenAlex ID: W7165115648