Congenital stationary night blindness linked to a CACNA1F gene mutation
ABSTRACT Congenital stationary night blindness encompasses a heterogeneous group of inherited retinal dystrophies characterized by impaired scotopic vision from birth. This article provides a comprehensive overview of congenital stationary night blindness, focusing on its genetic underpinnings, clin...
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| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Sociedade Brasileira de Oftalmologia
2025-04-01
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| Series: | Revista Brasileira de Oftalmologia |
| Subjects: | |
| Online Access: | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0034-72802025000100505&lng=en&tlng=en |
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| Summary: | ABSTRACT Congenital stationary night blindness encompasses a heterogeneous group of inherited retinal dystrophies characterized by impaired scotopic vision from birth. This article provides a comprehensive overview of congenital stationary night blindness, focusing on its genetic underpinnings, clinical manifestations, and diagnostic approaches, with a specific emphasis on variants in the CACNA1F gene. Through a detailed case report of a 49-year-old male with congenital stationary night blindness attributed to a hemizygous variant in CACNA1F, we illustrate typical clinical presentations and correlate them with underlying genetic abnormalities. The discussion highlights the importance of integrating advanced diagnostic techniques, such as optical coherence tomography and electrophysiological testing, with genetic analysis for accurate diagnosis and personalized management strategies. Additionally, the genotype-phenotype correlations underscore the significance of genetic screening in predicting disease severity and guiding therapeutic interventions. This article contributes to the understanding of congenital stationary night blindness pathophysiology and emphasizes the role of genetic evaluation in facilitating targeted approaches for diagnosis, familly counseling, and potential future gene therapies. |
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| ISSN: | 1982-8551 |