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Enhanced S-Cone Syndrome (Goldmann-Favre Syndrome)

  • Stephen H. Tsang
  • Tarun SharmaEmail author
Chapter
Part of the Advances in Experimental Medicine and Biology book series (AEMB, volume 1085)

Abstract

  • In enhanced S-cone syndrome (ESCS), rods and red and green cone receptors are degenerated, but S-cones are enhanced (increased in number).

  • Patients have increased sensitivity to blue light, with night blindness from an early age (from birth) and impaired central vision.

  • The fundus shows characteristic nummular pigmentary changes along the vascular arcades at the level of the retinal pigment epithelium (RPE). (In retinitis pigmentosa [RP], pigment is deposited within the retina.) Sometimes, there are white-yellow dots at the level of the RPE along the vascular arcades, along with focal hyperpigmentation within the arcades (Figs. 28.1 and 28.2).

  • Patients may also have foveal schisis. (Goldmann-Favre syndrome consists of foveal schisis plus peripheral degeneration.)

  • Fundus autofluorescence (FAF) shows a decrease or lack of AF outside the arcades, possibly due to loss of photoreceptors in this region; a ring of hyperautofluorescence (hyperAF) is seen in the transition zone between the region of absent AF beyond the arcade and the central zone of spoke-like, relatively increased AF, centered on the fovea; increased AF may be related to lipofuscin accumulation secondary to RPE-photoreceptor dysfunction in that area.

  • Electroretinograms (ERGs) in ESCS are pathognomonic and show extinguished rod response and a similar wave form in both scotopic and photopic conditions.
    • The 30 Hz flicker responses are markedly delayed and are of lower amplitude. (Normally, flicker amplitude lies between that of the photopic a- and b-waves, but in ESCS, it is less than that of the photopic a-wave.)

    • With orange background (suppressing red and green cones), increased response to short wavelength (blue) is elicited, suggestive of functioning of S-cones. The multifocal ERG (mfERG) shows preservation of central responses, though somewhat delayed.

  • ESCS is a slowly progressive disorder that often leads to severe visual loss in adults.

Keywords

Autosomal recessive Enhanced S-cone syndrome ESCS Goldmann-Favre syndrome 

Suggested Reading

  1. Gelman R, Greenberg JP, Duncker T, Nguyen HV, Yannuzzi LA, Tsang SH. Hyperautofluorescent macular ring in a series of patients with enhanced S-cone syndrome. Ophthalmic Surg Lasers Imaging Retina. 2014;45:592–5.CrossRefGoogle Scholar
  2. Hull S, Arno G, Sergouniotis PI, Tiffin P, Borman AD, Chandra A, et al. Clinical and molecular characterization of enhanced S-cone syndrome in children. JAMA Ophthalmol. 2014;132:1341–9.CrossRefGoogle Scholar

Copyright information

© Springer International Publishing AG, part of Springer Nature 2018

Authors and Affiliations

  1. 1.Jonas Children’s Vision Care, Bernard & Shirlee Brown Glaucoma Laboratory, Columbia Stem Cell Initiative-Departments of Ophthalmology, Biomedical Engineering, Pathology & Cell Biology, Institute of Human Nutrition, Vagelos College of Physicians and Surgeons, Columbia UniversityNew YorkUSA
  2. 2.Department of Ophthalmology, Columbia UniversityEdward S. Harkness Eye Institute, NewYork-Presbyterian HospitalNew YorkUSA

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