Medicine:Goldmann–Favre syndrome

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Goldmann-Favre syndrome
Autosomal recessive - en.svg
SpecialtyMedical genetics
SymptomsOcular
Usual onsetChildhood
DurationLifelong
CausesGenetic mutation
Risk factorsBeing of Jewish descent, being part of a consanguineous family
Preventionnone
PrognosisMedium
Frequencyrare
Deaths-

Goldmann–Favre syndrome is a rare genetic disorder characterized by early-onset nyctalopia, decreased visual acuity, and abnormal findings of the fundus.[1] It is a type of progressive vitreotapetoretinal degeneration.[2]

This condition is more common among Marrano Jews living in Belmonte, Portugal.

Signs and symptoms

Individuals with this condition usually start showing signs of nyctalopia (also known as night-blindness) during their early childhood, increase in sensitivity to blue light, progressive decrease of visual acuity in both eyes, cataract, peripheral vision loss, vitreous liquefaction and detachment, clumped pigment deposits of the fundus, either peripheral or central retinoschisis, cystic macular edema, and retinal degeneration. Occasional findings include optic nerve atrophy.[3][4][5]

Complications

This condition has many complications associated with it.

One of the most important ones are the ones associated with the ocular abnormalities characteristic of this condition, for example: cataract, retinal degeneration, and nightblindness. If they remain untreated, they can end up in severe vision impairment.[6][7]

Causes

Goldmann–Favre syndrome patients are born with supernumerary blue cones, a decreased amount of red and green cones, and either total absence or very little amounts of functioning rods. This gives rise to the increase of blue light sensitivity characteristic of this condition.[8][9]

This condition is caused by autosomal recessive mutations in the NR2E3 gene, located in chromosome 15.[10][11][12][13]

Diagnosis

Diagnosis of Goldmann–Favre syndrome can be made through ocular investigations (such as fundus autofluorescence, electroretinogram and opticam coherence tomography) alongside sequencing of the NR2E3 gene to check for mutations.[14]

Treatment

Although no effective treatment for this condition is known, cataract surgery and low vision aids can be used.[15]

Treatment methods such as 810 nm diode laser ablation, bevacizumab and/or triamcinolone acetonide provided control to some of the ocular symptoms in a 64-year-old female patient.[16]

Prevalence

According to OrphaNet, this condition occurs in less than 1 out of every million people.[3]

Cases

The following list comprises some of the cases which are listed on the OMIM page for this condition:

  • Favre et al. describes 2 French teenage siblings of the opposite sex. Out of the 2, the brother (who was 16 years old) was affected the most. He was said to have difficulties walking inside his mother's apartment as soon as night fell from childhood (nightblindness), his visual acuity was 0.3 in his left eye and 0.4 in his right eye. He also had other findings, such as abnormal taste buds, "slightly marbled-shaped macula", localized areas of chorioretinal atrophy alongside pigmentation resembling retinitis pigmentosa, etc.[17]
  • J E MacVicar et al. describes 2 brothers, product of a consanguineous marriage, who exhibited signs of "idiopathic retinoschisis and early hemeralopia, Goldmann-Favre type" alongside other symptoms such as an angiomatosis-like tumor present in one brother and a lamellar macular hole in the other brother. They also described two unaffected females with "grouped-like" pigmentation that were possibly heterozygotes for the gene mutation.[18]
  • Hood et al. describes three patients with the condition and analyze their ERGs to find an abundance of S cones that replace and thus reduce L/M cones.[19]
  • S Gerber et al. describes a large consanguineous population of Crypto Jews living in Portugal. This specific population (also known as Belmonte Jews) belongs to a larger group of people across Portugal (marranos) who are the descendants of Spanish Jews who escaped to Portugal and had to convert from their religion in order to protect their livelihood. The population studied in this case report was from Belmonte, an isolated mountainous region in Beira-Baixa, Portugal which houses the last remaining population of practicing marranos. They mapped this condition to a mutation in chromosome 15q22-24. Haplotype studies suggested this mutation occurred in a period of time after this population settled into the area.[20]

References

  1. ↑ Herrador-Montiel, Á.; Sánchez-Vicente, J. L.; Arias-Alcalá, M. (2012-08-01). "Clinical features of Goldmann–Favre vitreoretinal degeneration" (in en). Archivos de la Sociedad Española de Oftalmología (English Edition) 87 (8): 260–262. doi:10.1016/j.oftale.2012.09.008. ISSN 2173-5794. PMID 22794174. https://www.sciencedirect.com/science/article/pii/S2173579412001363. 
  2. ↑ "Goldmann-Favre syndrome". https://medical-dictionary.thefreedictionary.com/Goldmann-Favre+syndrome. 
  3. ↑ 3.0 3.1 RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: Goldmann Favre syndrome" (in en). https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=53540&lng=EN. 
  4. ↑ "Entry - #268100 - ENHANCED S-CONE SYNDROME; ESCS - OMIM" (in en-us). https://omim.org/entry/268100#8. 
  5. ↑ Fuentes M., Ana G.; De la Rosa, Luis (1993). "Síndrome de Goldmann Favré: estudio clínico de una familia" (in es). Rev. Mex. Oftalmol: 27–31. https://pesquisa.bvsalud.org/portal/resource/pt/lil-124654. 
  6. ↑ wpengine (2016-01-27). "The Dangers of Leaving Cataracts Untreated" (in en-US). https://corneacare.com/the-dangers-of-leaving-cataracts-untreated/. 
  7. ↑ "Enhanced S-Cone Syndrome - EyeWiki" (in en). https://eyewiki.aao.org/Enhanced_S-Cone_Syndrome. 
  8. ↑ "Goldmann-Favre syndrome - About the Disease - Genetic and Rare Diseases Information Center" (in en). https://rarediseases.info.nih.gov/diseases/10781/goldmann-favre-syndrome. 
  9. ↑ Roberts, Sean (16 June 2022). "Goldmann-Favre syndrome" (in en-US). https://rarediseases.org/gard-rare-disease/goldmann-favre-syndrome/. 
  10. ↑ Haider, N. B.; Jacobson, S. G.; Cideciyan, A. V.; Swiderski, R.; Streb, L. M.; Searby, C.; Beck, G.; Hockey, R. et al. (2000-02-01). "Mutation of a nuclear receptor gene, NR2E3, causes enhanced S cone syndrome, a disorder of retinal cell fate". Nature Genetics 24 (2): 127–131. doi:10.1038/72777. ISSN 1061-4036. PMID 10655056. https://pubmed.ncbi.nlm.nih.gov/10655056/. 
  11. ↑ Chavala, S. H.; Sari, A.; Lewis, H.; Pauer, G. J. T.; Simpson, E.; Hagstrom, S. A.; Traboulsi, E. I. (2005-08-01). "An Arg311Gln NR2E3 mutation in a family with classic Goldmann-Favre syndrome" (in en). British Journal of Ophthalmology 89 (8): 1065–1066. doi:10.1136/bjo.2005.068130. ISSN 0007-1161. PMID 16024868. 
  12. ↑ Özateş, Serdar; Tekin, K.; Teke, M. Y. (2018). "Goldmann-Favre Syndrome: Case Series". Turkish Journal of Ophthalmology 48 (1): 47–51. doi:10.4274/tjo.76158. PMID 29576899. 
  13. ↑ Manayath, George J.; Namburi, Prasanthi; Periasamy, Sundaresan; Kale, Jeevan A.; Narendran, Venkatapathy; Ganesh, Anuradha (2014-05-29). "A novel mutation in the NR2E3 gene associated with Goldmann-Favre syndrome and vasoproliferative tumor of the retina" (in English). Molecular Vision 20: 724–731. ISSN 1090-0535. PMID 24891813. PMC 4039415. https://squ.pure.elsevier.com/en/publications/a-novel-mutation-in-the-nr2e3-gene-associated-with-goldmann-favre. 
  14. ↑ "Genetic Testing - Cones-S, Increased ..., Goldmann-Favre syndrome (Enhanced S-Cone syndrome, Goldmann-Favre syndrome) - Gen NR2E3. - IVAMI". https://www.ivami.com/en/genetic-testing-human-gene-mutations-diseases-neoplasias-and-pharmacogenetics/3532-genetic-testing-cones-s-increased-goldmann-favre-syndrome-enhanced-s-cone-syndrome-goldmann-favre-syndrome-gen-nr2e3. 
  15. ↑ "Goldmann-Favre Syndrome/ESCS | Hereditary Ocular Diseases" (in en). https://disorders.eyes.arizona.edu/disorders/goldmann-favre-syndromeescs. 
  16. ↑ Nieves, Fabiola Ramos; Villegas, Victor M.; Patel, Nimesh A.; Berrocal, Audina M.; Murray, Timothy G. (2022-03-01). "Multimodal treatment of Coats-like exudative vitreoretinopathy in Goldmann-Favre syndrome" (in en). American Journal of Ophthalmology Case Reports 25: 101362. doi:10.1016/j.ajoc.2022.101362. ISSN 2451-9936. PMID 35243140. 
  17. ↑ Favre, M. (1958). "A propos de deux cas de dégénérescence hyaloïdéorétinienne" (in english). Ophthalmologica 135 (5–6): 604–609. doi:10.1159/000303360. ISSN 0030-3755. PMID 13553271. https://www.karger.com/Article/FullText/303360. 
  18. ↑ MacVicar, James E.; Wilbrandt, Hans R. (1970-05-01). "Hereditary Retinoschisis and Early Hemeralopia: A Report of Two Cases". Archives of Ophthalmology 83 (5): 629–636. doi:10.1001/archopht.1970.00990030629020. ISSN 0003-9950. PMID 5309737. https://doi.org/10.1001/archopht.1970.00990030629020. 
  19. ↑ Hood, Donald C.; Cideciyan, Artur V.; Roman, Alejandro J.; Jacobson, Samuel G. (1995-05-01). "Enhanced S cone syndrome: Evidence for an abnormally large number of S cones" (in en). Vision Research 35 (10): 1473–1481. doi:10.1016/0042-6989(95)98727-Q. ISSN 0042-6989. PMID 7645276. 
  20. ↑ Gerber, S.; Rozet, J. M.; Takezawa, S. I.; dos Santos, L. C.; Lopes, L.; Gribouval, O.; Penet, C.; Perrault, I. et al. (2000-09-01). "The photoreceptor cell-specific nuclear receptor gene (PNR) accounts for retinitis pigmentosa in the Crypto-Jews from Portugal (Marranos), survivors from the Spanish Inquisition". Human Genetics 107 (3): 276–284. doi:10.1007/s004390000350. ISSN 0340-6717. PMID 11071390. https://pubmed.ncbi.nlm.nih.gov/11071390/. 



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