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Published on: April 14, 2014
Long-term follow-up in enhanced s-cone syndrome
Sophia I Pachydaki1, Pawan A Bhatnagar, Irene A Barbazetto
1From the *Department of Ophthalmology, Columbia University, New York, and †Vitreous-Retina-Macula Consultants of New York and the LuEsther T. Mertz Retinal Research Center, Manhattan Eye, Ear, and Throat Hospital, New York, New York.
Purpose:
To report the long-term follow-up of a case of enhanced S-cone syndrome (ESCS).
Methods:
Retrospective chart review.
Results:
The patient was misdiagnosed with atypical retinitis pigmentosa at 17 years of age. Twenty-seven years of follow-up showed slow deterioration but relative preservation of vision. The most striking clinical feature was the formation of a ring of heavy round pigment clumping around the vascular arcades. Electroretinogram was reported as extinguished in advanced stages of the condition. Genetic testing revealed the most common mutation of the NR2E3 gene reported in the Goldmann-Favre syndrome/ESCS entity.
Conclusion:
Visual acuity can be relatively preserved over the course of ESCS. In advanced stages, genetic testing can be a valuable diagnostic tool.
