Enhanced S-cone function with preserved rod function in two brothers
Author Information
Author(s): Kinori Michael, Pras Eran, Kolker Andrew, Ferman-Attar Gili, Moroz Iris, Moisseiev Joseph, Bandah-Rozenfeld Dikla, Mizrahi-Meissonnier Liliana, Sharon Dror, Rotenstreich Ygal
Primary Institution: The Goldschleger Eye Institute, Sheba Medical Center, Tel Hashomer, Israel
Hypothesis
To describe the clinical findings and genetic analysis in two brothers having a novel retinal disease characterized by an enhanced S-cone phenotype with normal rod function.
Conclusion
The study identifies a new familial retinal phenotype with enhanced S-cone function and preserved rod function, differing from typical enhanced S-cone syndrome.
Supporting Evidence
- Both patients showed enhanced S-cone function on ERG testing.
- Scotopic responses were within normal limits, contrasting with typical ESCS.
- Genetic analysis did not reveal mutations in known candidate genes.
Takeaway
This study looks at two brothers who have a special eye condition where they can see colors well but have normal night vision, which is different from what is usually seen in similar conditions.
Methodology
Patients underwent complete ophthalmologic examinations and genetic analysis of candidate genes.
Limitations
The study did not identify the genetic cause of the condition despite thorough testing.
Participant Demographics
Two adult brothers from an Arab family with consanguineous parents.
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