Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2025 Sep 5;15(3):457-465.
doi: 10.4103/tjo.TJO-D-25-00089. eCollection 2025 Jul-Sep.

Alterations in the foveal avascular zone and surrounding capillary network as important indicators of visual prognosis for hereditary macular dystrophy

Yen-Ching Lin  1 , Ting-Chieh Ko  1 , Chang-Hao Yang  1   2 , Pei-Hsuan Chen  1 , Chung-May Yang  1   2 , Pei-Lung Chen  3   4   5 , Bo-I Kuo  1   3 , Ta-Ching Chen  1   6
Affiliations

Alterations in the foveal avascular zone and surrounding capillary network as important indicators of visual prognosis for hereditary macular dystrophy

Yen-Ching Lin et al. Taiwan J Ophthalmol. .

Abstract

Purpose: Hereditary macular dystrophy (MD) usually severely affects the central vision. This study aimed to explore macular microcirculation and its relationship with disease progression in different morphological patterns of MD.

Materials and methods: Sixty-five patients with MD and 26 healthy participants were included. Panel-based next-generation sequencing (NGS), fundus autofluorescence (FAF), and optical coherence tomography angiography (OCTA) were used for genetic diagnosis, morphological classification, and evaluation of macular microcirculation, respectively. Patients were divided into two groups: the central lesion group (CLG) and the dispersed lesion group (DLG), based on FAF findings. The alterations in microcirculation between the groups and subgroups were analyzed and correlated with visual preservation.

Results: A high diagnostic rate of disease-causing genes was achieved with a panel-based NGS test (72.3%). Compromised macular microcirculation was seen in MD of all genotypes. Enlargement of the foveal avascular zone and decreased foveal vessel density was significantly correlated with impaired vision (both P < 0.05). In Stargardt disease, the CLG had an earlier onset than the DLG, with more severely impaired central vision and compromised microcirculation.

Conclusion: OCTA is a reliable, noninvasive tool for evaluating the microcirculation of MD. Our results demonstrate that compromised macular microcirculation occurs with MD, and foveal microcirculation is crucial for visual preservation.

Keywords: Capillary network; Stargardt disease; foveal avascular zone; hereditary macular dystrophy; optical coherence tomography angiography.

PubMed Disclaimer

Conflict of interest statement

Dr. Chung-May Yang, Dr. Chang-Hao Yang and Dr. Ta-Ching Chen, the section editors at Taiwan Journal of Ophthalmology, had no roles in the peer review process of or decision to publish this article. The other authors declared no conflicts of interest in writing this paper.

Figures

Figure 1
Figure 1
Distribution and frequency of recall onset age between the central lesion group (CLG) (a) and dispersed lesion group (DLG) (b). The CLG has an earlier onset, mostly before the 40s, than the DLG. Distribution and frequencies of disease-causing genes identified in patients with macular dystrophy in the CLG (c) and DLG (d). The diagnostic rate is 78% (29/37 patients) and 64% (18/28 patients) in the CLG and DLG, respectively
Figure 2
Figure 2
Linear regression of logarithm of the minimum angle of resolution corrected visual acuity with fundus autofluorescence (FAZ) (a), foveal area vessel density (b), and foveal vessel density in superficial (c in Early Treatment Diabetic Retinopathy Study (ETDRS) grid/d in 3 × 3 grid) and deep (e in ETDRS grid/f in 3 × 3 grid) retinal plexuses. Worse central vision is associated with larger FAZ, decreased foveal area density, and decreased vessel density of the fovea in the superficial and deep retinal plexuses. LogMAR = Logarithm of the minimum angle of resolution, CVA = Corrected visual acuity
Figure 3
Figure 3
Representative fundus autofluorescence and optical coherence tomography angiography images of patients with Stargardt disease in the central lesion group (a) and dispersed lesion group (b). (a) A 23-year-old female patient with ABCA4-related central type macular dystrophy and (b) a 64-year-old male patient with ELOVL4-related dispersed type macular dystrophy
Figure 4
Figure 4
Representative optical coherence tomography images of patients with abnormalities in the vitreoretinal interface. Patients with mild epiretinal membrane (ERM) without obvious traction force (a) and with retinal thickening (b). The only case of ERM, lamellar hole, and atrophy in the central macula (c)
See this image and copyright information in PMC

References

    1. Hohman TC. Hereditary retinal dystrophy. Handb Exp Pharmacol. 2017;242:337–67. - PubMed
    1. Wang Q, Chen Q, Zhao K, Wang L, Wang L, Traboulsi EI. Update on the molecular genetics of retinitis pigmentosa. Ophthalmic Genet. 2001;22:133–54. - PubMed
    1. Xu L, Hu L, Ma K, Li J, Jonas JB. Prevalence of retinitis pigmentosa in urban and rural adult Chinese: The Beijing eye study. Eur J Ophthalmol. 2006;16:865–6. - PubMed
    1. Wright AF, Chakarova CF, Abd El-Aziz MM, Bhattacharya SS. Photoreceptor degeneration: Genetic and mechanistic dissection of a complex trait. Nat Rev Genet. 2010;11:273–84. - PubMed
    1. Wei CY, Yang JH, Yeh EC, Tsai MF, Kao HJ, Lo CZ, et al. Genetic profiles of 103,106 individuals in the Taiwan Biobank provide insights into the health and history of Han Chinese. NPJ Genom Med. 2021;6:10. - PMC - PubMed

LinkOut - more resources