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Ophthalmology44 papers

Macular syphilide

Last edited: 4/14/2026

Overview

Macular syphilide, more accurately referred to as Best vitelliform macular dystrophy (BVMD), is an autosomal dominant macular dystrophy affecting approximately 1 in 10,000 individuals. It is characterized by the presence of vitelliform lesions in the macula, leading to variable clinical presentations depending on disease stage 11314.

Diagnosis

  • Clinical Presentation: Presence of vitelliform lesions in the macula, often with variable expressivity 113.
  • Ophthalmic Tests:
    • - Fundus Examination: Identification of characteristic vitelliform lesions 1013. - Optical Coherence Tomography (OCT): Detects foveal and extrafoveal lesions, aiding in disease staging 610. - Electrooculography (EOG): Often shows delayed light rise or reduced Arden ratio 11121.
  • Genetic Testing: Linkage to chromosome 11q13 confirms diagnosis in familial cases 14.

    • Management

  • No Specific Pharmacological Treatment: Current management focuses on monitoring and supportive care 113.
  • Regular Follow-Up: Essential for monitoring disease progression and visual acuity changes 111.
  • Low Vision Aids: Considered for patients experiencing significant visual impairment 111.

    • Special Populations

  • Pediatrics: Late onset cases can present in adulthood, but early onset may occur 25.
  • Elderly: Older patients may exhibit milder clinical findings compared to younger individuals 25.
  • Comorbidities: No specific interactions noted in abstracts, but general management principles apply 26.

    • Key Recommendations

  • Genetic Counseling and Testing for familial cases to confirm diagnosis and assess risk 114 (Evidence: Strong).
  • Regular Ophthalmic Monitoring including OCT and EOG to track disease progression 110 (Evidence: Moderate).
  • Supportive Care Measures such as low vision aids should be considered based on visual impairment severity 111 (Evidence: Moderate).

    • References

    1 Jenny LA, Tsang SH, Sharma T. Best Vitelliform Macular Dystrophy. Advances in experimental medicine and biology 2025. link 2 Tsang SH, Sharma T. Best Vitelliform Macular Dystrophy. Advances in experimental medicine and biology 2018. link 3 Frainer RH, Abreu LB, Pinto GM, Carvalho AV, Meneghello LP. Do you know this syndrome?. Anais brasileiros de dermatologia 2013. link 4 Lindfield D, Griffiths MF, Thompson DA, Moore AT. Macular dystrophy in Kabuki syndrome: a new clinical feature?. Journal of pediatric ophthalmology and strabismus 2011. link 5 Koizumi H, Maguire JI, Spaide RF. Spectral domain optical coherence tomographic findings of occult macular dystrophy. Ophthalmic surgery, lasers & imaging : the official journal of the International Society for Imaging in the Eye 2009. link 6 Schadlu R, Shah GK, Prasad AG. Optical coherence tomography findings in autosomal dominant macular dystrophy. Ophthalmic surgery, lasers & imaging : the official journal of the International Society for Imaging in the Eye 2008. link 7 Cakir M, Cekiç O, Bayraktar S, Yilmaz OF. Spontaneous separation of epiretinal membrane in a child with Stargardt macular dystrophy. Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus 2007. link 8 Lanzetta P, Virgili G, Menchini U. Indocyanine green angiography in vitelliform macular lesions. Ophthalmologica. Journal international d'ophtalmologie. International journal of ophthalmology. Zeitschrift fur Augenheilkunde 1996. link 9 Mendivil A. Bilateral cystoid macular edema in a 21-year-old woman. Survey of ophthalmology 1996. link80071-3) 10 Yamaguchi K, Yamamoto T, Satoh T, Takahashi Y, Takahashi S. Observation of macular lesion in Best's vitelliform macular dystrophy by scanning laser ophthalmoscope. International ophthalmology 1995. link 11 Rothman RJ. Photoreceptor dysfunction in central areolar choroidal dystrophy. Annals of ophthalmology 1994. link 12 Petracci M, Pannini S, Frezzotti R. Butterfly-shaped macular dystrophy. Longitudinal case study of two siblings. Ophthalmic paediatrics and genetics 1993. link 13 Loewenstein A, Godel V, Godel L, Lazar M. Variable phenotypic expressivity of Best's vitelliform dystrophy. Ophthalmic paediatrics and genetics 1993. link 14 Forsman K, Graff C, Nordström S, Johansson K, Westermark E, Lundgren E et al.. The gene for Best's macular dystrophy is located at 11q13 in a Swedish family. Clinical genetics 1992. link 15 Small KW, Weber JL, Hung WY, Vance J, Roses A, Pericak-Vance M. North Carolina macular dystrophy: exclusion map using RFLPs and microsatellites. Genomics 1991. link90087-u) 16 Miyake Y, Ichikawa K, Shiose Y, Kawase Y. Hereditary macular dystrophy without visible fundus abnormality. American journal of ophthalmology 1989. link90120-7) 17 Godel V, Chaine G, Regenbogen L, Lazar M. Hereditary vitelliform macular dystrophy. Australian and New Zealand journal of ophthalmology 1986. link 18 Daily MJ, Mets MB. Fenestrated sheen macular dystrophy. Archives of ophthalmology (Chicago, Ill. : 1960) 1984. link 19 Prensky JG, Bresnick GH. Butterfly-shaped macular dystrophy in four generations. Archives of ophthalmology (Chicago, Ill. : 1960) 1983. link 20 Coppeto J, Ayazi S. Annular macular dystrophy. American journal of ophthalmology 1982. link90525-6) 21 in 't Veld M, Oosterhuis JA. Adult-onset foveomacular pigment epithelial dystrophy. Documenta ophthalmologica. Advances in ophthalmology 1982. link 22 Slagsvold JE. Fenestrated sheen macular dystrophy. A new autosomal dominant maculopathy. Acta ophthalmologica 1981. link 23 Mejia JR, Gieser RG. Sporadic butterfly macular dystrophy. Annals of ophthalmology 1981. link 24 Skalka HW. Vitelliform macular lesions. The British journal of ophthalmology 1981. link 25 Wiznia RA, Perina B, Noble KG. Vitelliform macular dystrophy of late onset. The British journal of ophthalmology 1981. link 26 Pouliquen Y, Dhermy P, Renard G, Giraud JP, Savoldelli M. Combined macular dystrophy and cornea guttata: an electron microscopic study. Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie. Albrecht von Graefe's archive for clinical and experimental ophthalmology 1980. link 27 Cortin P, Archer D, Maumenee IH, Feiock K, Speros P. A patterned macular dystrophy with yellow plaques and atrophic changes. The British journal of ophthalmology 1980. link 28 Massof RW, Fleischman JA, Fine SL, Yoder F. Flicker fusion thresholds in Best macular dystrophy. Archives of ophthalmology (Chicago, Ill. : 1960) 1977. link 29 Pinckers A, Deutman AF, Notting JG. Retinal functions in dominant cystoid macular dystrophy (DCMD). Acta ophthalmologica 1976. link 30 Deutman AF, Pinckers AJ, Aan de Kerk AL. Dominantly inherited cystoid macular edema. American journal of ophthalmology 1976. link90540-7) 31 Bard LA, Cross HE. Genetic counseling of families with Best macular dystrophy. Transactions. Section on Ophthalmology. American Academy of Ophthalmology and Otolaryngology 1975. link 32 Dobbie JG, Fetkenhour CL, Shoch D. Central areolar pigment epithelial (cape) dystrophy. Transactions of the American Ophthalmological Society 1975. link

    Original source

    1. [1]
      Best Vitelliform Macular Dystrophy. — Jenny LA, Tsang SH, Sharma T Advances in experimental medicine and biology (2025)
    2. [2]
      Best Vitelliform Macular Dystrophy. — Tsang SH, Sharma T Advances in experimental medicine and biology (2018)
    3. [3]
      Do you know this syndrome? — Frainer RH, Abreu LB, Pinto GM, Carvalho AV, Meneghello LP Anais brasileiros de dermatologia (2013)
    4. [4]
      Macular dystrophy in Kabuki syndrome: a new clinical feature? — Lindfield D, Griffiths MF, Thompson DA, Moore AT Journal of pediatric ophthalmology and strabismus (2011)
    5. [5]
      Spectral domain optical coherence tomographic findings of occult macular dystrophy. — Koizumi H, Maguire JI, Spaide RF Ophthalmic surgery, lasers & imaging : the official journal of the International Society for Imaging in the Eye (2009)
    6. [6]
      Optical coherence tomography findings in autosomal dominant macular dystrophy. — Schadlu R, Shah GK, Prasad AG Ophthalmic surgery, lasers & imaging : the official journal of the International Society for Imaging in the Eye (2008)
    7. [7]
      Spontaneous separation of epiretinal membrane in a child with Stargardt macular dystrophy. — Cakir M, Cekiç O, Bayraktar S, Yilmaz OF Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus (2007)
    8. [8]
      Indocyanine green angiography in vitelliform macular lesions. — Lanzetta P, Virgili G, Menchini U Ophthalmologica. Journal international d'ophtalmologie. International journal of ophthalmology. Zeitschrift fur Augenheilkunde (1996)
    9. [9]
      Bilateral cystoid macular edema in a 21-year-old woman. — Mendivil A Survey of ophthalmology (1996)
    10. [10]
      Observation of macular lesion in Best's vitelliform macular dystrophy by scanning laser ophthalmoscope. — Yamaguchi K, Yamamoto T, Satoh T, Takahashi Y, Takahashi S International ophthalmology (1995)
    11. [11]
      Photoreceptor dysfunction in central areolar choroidal dystrophy. — Rothman RJ Annals of ophthalmology (1994)
    12. [12]
      Butterfly-shaped macular dystrophy. Longitudinal case study of two siblings. — Petracci M, Pannini S, Frezzotti R Ophthalmic paediatrics and genetics (1993)
    13. [13]
      Variable phenotypic expressivity of Best's vitelliform dystrophy. — Loewenstein A, Godel V, Godel L, Lazar M Ophthalmic paediatrics and genetics (1993)
    14. [14]
      The gene for Best's macular dystrophy is located at 11q13 in a Swedish family. — Forsman K, Graff C, Nordström S, Johansson K, Westermark E, Lundgren E et al. Clinical genetics (1992)
    15. [15]
      North Carolina macular dystrophy: exclusion map using RFLPs and microsatellites. — Small KW, Weber JL, Hung WY, Vance J, Roses A, Pericak-Vance M Genomics (1991)
    16. [16]
      Hereditary macular dystrophy without visible fundus abnormality. — Miyake Y, Ichikawa K, Shiose Y, Kawase Y American journal of ophthalmology (1989)
    17. [17]
      Hereditary vitelliform macular dystrophy. — Godel V, Chaine G, Regenbogen L, Lazar M Australian and New Zealand journal of ophthalmology (1986)
    18. [18]
      Fenestrated sheen macular dystrophy. — Daily MJ, Mets MB Archives of ophthalmology (Chicago, Ill. : 1960) (1984)
    19. [19]
      Butterfly-shaped macular dystrophy in four generations. — Prensky JG, Bresnick GH Archives of ophthalmology (Chicago, Ill. : 1960) (1983)
    20. [20]
      Annular macular dystrophy. — Coppeto J, Ayazi S American journal of ophthalmology (1982)
    21. [21]
      Adult-onset foveomacular pigment epithelial dystrophy. — in 't Veld M, Oosterhuis JA Documenta ophthalmologica. Advances in ophthalmology (1982)
    22. [22]
      Fenestrated sheen macular dystrophy. A new autosomal dominant maculopathy. — Slagsvold JE Acta ophthalmologica (1981)
    23. [23]
      Sporadic butterfly macular dystrophy. — Mejia JR, Gieser RG Annals of ophthalmology (1981)
    24. [24]
      Vitelliform macular lesions. — Skalka HW The British journal of ophthalmology (1981)
    25. [25]
      Vitelliform macular dystrophy of late onset. — Wiznia RA, Perina B, Noble KG The British journal of ophthalmology (1981)
    26. [26]
      Combined macular dystrophy and cornea guttata: an electron microscopic study. — Pouliquen Y, Dhermy P, Renard G, Giraud JP, Savoldelli M Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie. Albrecht von Graefe's archive for clinical and experimental ophthalmology (1980)
    27. [27]
      A patterned macular dystrophy with yellow plaques and atrophic changes. — Cortin P, Archer D, Maumenee IH, Feiock K, Speros P The British journal of ophthalmology (1980)
    28. [28]
      Flicker fusion thresholds in Best macular dystrophy. — Massof RW, Fleischman JA, Fine SL, Yoder F Archives of ophthalmology (Chicago, Ill. : 1960) (1977)
    29. [29]
      Retinal functions in dominant cystoid macular dystrophy (DCMD). — Pinckers A, Deutman AF, Notting JG Acta ophthalmologica (1976)
    30. [30]
      Dominantly inherited cystoid macular edema. — Deutman AF, Pinckers AJ, Aan de Kerk AL American journal of ophthalmology (1976)
    31. [31]
      Genetic counseling of families with Best macular dystrophy. — Bard LA, Cross HE Transactions. Section on Ophthalmology. American Academy of Ophthalmology and Otolaryngology (1975)
    32. [32]
      Central areolar pigment epithelial (cape) dystrophy. — Dobbie JG, Fetkenhour CL, Shoch D Transactions of the American Ophthalmological Society (1975)
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