Benign Yellow Dot Maculopathy

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Disease Entity

Benign Yellow Dot Maculopathy

Disease

Benign yellow dot maculopathy, first described by Dev Borman et al. in 2017, is a rare condition characterized by bilateral yellow dots in the parafoveal macula.[1] There has been one reported case of unilateral involvement.[2] The condition is non-progressive and patients have normal visual function.[1]

Epidemiology

Prevalence is unknown, likely due to the condition’s benign nature. A recent review of the literature demonstrated a 2:1 female-to-male ratio and a median age at diagnosis of 16 and a range 5-69 of reported cases.[1][2][3][4][5][6] Benign yellow dot maculopathy has been reported in those of White, West-African, South Asian, African-Caribbean, and Hispanic descent.[1][3] Around 46 cases have been reported till 2023. [3]

Risk Factors

Family history is a risk factor given the association with autosomal dominant inheritance.[1] In the first large study, 'Whole-exome analysis across 3 unrelated families found no pathogenic variants in known macular dystrophy genes. Haplotype sharing analysis in one family excluded linkage with the North Carolina macular dystrophy (MCDR1) locus.'[1]

Pathophysiology

The pathophysiology is unknown. It is hypothesized that an autosomal dominant inheritance is involved, although some reported cases are sporadic.[1][3]

Diagnosis

Benign yellow dot maculopathy usually presents as an incidental finding of bilateral yellow dots in the parafoveal macula on routine fundoscopic examination as most patients are asymptomatic.[1] Best corrected visual acuity (BCVA) is typically very good as 64% of reported eyes have 20/20 visual acuity.[3]

History

Patients are typically asymptomatic and this condition is noted on routine funduscopic examination as an incidental finding.

Physical examination

The typical exam finding is bilateral yellow dots in the parafoveal macula with one reported case of unilateral involvement. Representative images are available at https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5503697/. The clinical features described by Dev Borman et al. include 'All subjects had bilateral symmetric multiple yellow dots at the macula. In the majority, these were evenly distributed throughout the fovea, but in nine subjects they were concentrated in the nasal parafoveal area. The dots were hyperautofluorescent on fundus autofluorescence imaging. OCT imaging was generally normal, but in 6 subjects subtle irregularities at the inner segment ellipsoid band were seen. Electrophysiological studies identified normal macular function in 17/19 subjects and normal full-field retinal function in all subjects. '[1]

Diagnostic procedures

There is no specific diagnostic test to diagnose benign yellow dot maculopathy aside from a clinical exam; however, a recent review of the literature reported the following findings using common diagnostic tests in the workup of benign yellow dot maculopathy[3]:

  • OCT: no changes, but can demonstrate ellipsoid zone or RPE irregularity.
  • Fluorescein angiography: Early hyperfluorescence of the dots and mild RPE irregularities with window defect
  • FAF: hyperautofluorescence of the dots

Differential diagnosis

The differential diagnosis for this condition includes the following:

  • Autosomal dominant drusen
  • Bietti crystalline retinopathy
  • Cystinosis
  • Fundus flavimaculatus
  • North Carolina macular dystrophy
  • Oxalosis
  • Talc
  • Tamoxifen
  • Age-Related Macular Degeneration
  • Basa laminar drusen
  • White dot fovea

Management

Due to the non-progressive and benign nature of this condition, observation is recommended. Other causes of yellow dots in the macula should be considered and treated appropriately.

Prognosis

Long-term outcomes are currently unknown. The exact etiopathogenesis and differentiation from common differential diagnoses may need more cases with this condition to equivocally prove this to be a new entity. Strict diagnostic criteria for this condition are yet to be reported. Various reported cases do have different fundus features.[1][2]

References

  1. 1.0 1.1 1.2 1.3 1.4 1.5 1.6 1.7 1.8 1.9 Dev Borman, A., Rachitskaya, A., Suzani, M., Sisk, R. A., Ahmed, Z. M., Holder, G. E., Cipriani, V., Arno, G., Webster, A. R., Hufnagel, R. B., Berrocal, A., & Moore, A. T. (2017). Benign yellow dot maculopathy: A new macular phenotype. Ophthalmology, 124(7), 1004–1013. https://doi.org/10.1016/j.ophtha.2017.02.026
  2. 2.0 2.1 2.2 Mishra, A. V., Pollmann, A. S., Choudhry, N., Demmings, E., & Gupta, R. R. (2021). Unilateral benign yellow dot maculopathy. American Journal of Ophthalmology Case Reports, 22(101068), 101068. https://doi.org/10.1016/j.ajoc.2021.101068
  3. 3.0 3.1 3.2 3.3 3.4 3.5 Kasetty, V. M., Desai, T. U., & Desai, U. R. (2023). Benign yellow-dot maculopathy: case report and review of the literature. Canadian Journal of Ophthalmology. Journal Canadien d’ophtalmologie. https://doi.org/10.1016/j.jcjo.2023.01.002
  4. Murro, V., Mucciolo, D. P., Giorgio, D., Sodi, A., Passerini, I., Pacini, B., Finocchio, L., Virgili, G., & Rizzo, S. (2019). Multimodal imaging of benign yellow dot maculopathy. Ophthalmic Genetics, 40(2), 135–140. https://doi.org/10.1080/13816810.2019.1589529
  5. Moisseiev, E. (2018). Benign yellow dot maculopathy. American Journal of Ophthalmology Case Reports, 10, 13–15. https://doi.org/10.1016/j.ajoc.2018.01.040
  6. Ninet L, David T, Gascon P. Multimodal Imaging for Benign Yellow Dot Maculopathy. Ophthalmol Retina. 2022;6(4):307. doi:10.1016/j.oret.2021.12.020
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