Benign Yellow Dot Maculopathy
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]
Risk Factors
Family history is a risk factor given the association with autosomal dominant inheritance.[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 parafoveal macula with one reported case of unilateral involvement.
Diagnostic procedures
There is no specific diagnostic test to diagnose benign yellow dot maculopathy aside from 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 conditions includes the following:
- Autosomal dominant drusen
- Bietti crystalline retinopathy
- Cystinosis
- Fundus flavimaculatus
- North Carolina macular dystrophy
- Oxalosis
- Talc
- Tamoxifen
- Age-Related Macular Degeneration
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.
References
- ↑ 1.0 1.1 1.2 1.3 1.4 1.5 1.6 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
- ↑ 2.0 2.1 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
- ↑ 3.0 3.1 3.2 3.3 3.4 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
- ↑ 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
- ↑ 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
- ↑ 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
