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Diseases

Genetic and Rare Diseases Information Center (GARD)

Goldmann-Favre syndrome


Other Names for this Disease
  • Enhanced S-cone syndrome
  • Retinoschisis with early hemeralopia
  • Favre hyaloideoretinal degeneration
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Treatment

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How might Goldmann Favre syndrome be treated?

While treatment options for complications such as, retinoschisis and cystoid macular edema may be recommended, currently there is not a cure or specific targeted treatment for Goldmann Favre syndrome.[3468][1]

Laser photocoagulation may benefit macular retinoschisis maybe because it results in the debridement of diseased retinal pigment epithelial (RPE) cells and replacement by new cells decreasing the fluid within the macular cysts that could form in the disease.[2]

Some improvement of visual acuity has been reported after treatments with cyclosporin A and bromocriptine.[3] Acetazolamide, 125 mg twice daily and topical 2% dorzolamide have also worked for some patients with macular edema.[4][2] 
Last updated: 5/19/2016

References
  1. Iannaccone A, Fung KH, Eyestone ME, Stone EM. Treatment of adult-onset acute macular retinoschisis in enhanced s-cone syndrome with oral acetazolamide. Am J Ophthalmol. 2009 Feb;147(2):307-312.e2.; http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2677970/?tool=pubmed. Accessed 5/16/2011.
  2. Salvatore S, Fishman GA & Genead MA. Treatment of cystic macular lesions in hereditary retinal dystrophies. Surv Ophthalmol. November-December, 2013; 58(6):560-84.
  3. Goldmann-Favre syndrome. Orphanet. 2009; http://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=10723.
  4. Bušic M, Bjeloš M, Bosnar D, Ramic S & Bušic I. Cystoid macular lesions are resistant to topical dorzolamide treatment in enhanced S-cone syndrome child. Doc Ophthalmol. February, 2016; 132(1):67-73.


Other Names for this Disease
  • Enhanced S-cone syndrome
  • Retinoschisis with early hemeralopia
  • Favre hyaloideoretinal degeneration
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.