A Systematic Review of the Clinical Manifestations and Diagnostic Methods for Macular Coloboma

ABSTRACT

Objectives: To present the clinical features of and diagnostic methods used for macular coloboma (MC), and to analyze the factors associated with best-corrected visual acuity (BCVA) in patients with MC.

Methods: A systematic review using the MEDLINE (PubMed), EMBASE, LILACS, and Cochrane databases was performed. The factors associated with BCVA were analyzed.

Results: A total of 21 patients (mean age at diagnosis, 18.1 ± 14.6 years) with 36 eyes affected by MC (5 unilateral, 16 bilateral) were included in the study. All 21 patients (100%) had undergone a good-quality fundus examination. The size of the MC lesions ranged from 1.0 × 1.2 to 4.0 × 4.0 disc diameters (DD). Twenty-seven (73%) eyes had pigmented MC, seven (19%) had non-pigmented MC, and one (3%) had an unspecific type. The diagnosis was confirmed using spectral-domain optical coherence tomography (SD-OCT) in 16 (43.2%) eyes. A positive correlation was found between BCVA and the type of MC (β = 0.876, p = .006) and abnormal eye movement (β = 0.087, p = .018), and a negative correlation was found between BCVA and a contributory medical history of ventricular septal defect (β = −0.327, p = .001).

Conclusions: Pigmented MC was the most common type and had the highest possibility of causing impaired vision in the affected eyes. Additionally, joint examinations should be applied for diagnostic confirmation of MC. Furthermore, fundoscopy, electroretinogram, electrooculography, fundus fluorescein angiography, and SD-OCT are all critical for differential diagnosis of MC-like lesions.

KEYWORDS:

• Macular coloboma
• best-corrected visual acuity
• fundoscopy
• spectral-domain optical coherence tomography
• differential diagnosis

Acknowledgments

Thanks to my alma mater, who has given me the top educational resources in China, which allowed me to go abroad, enjoy a more advanced lifestyle, offered me a rational look at the world, and a delicate sense.

The authors thank Editage (www.editage.com) for English language editing.

The authors also thank Elsevier for verifying the license of reproducing figures.

Disclosure statement

Xiaoyi Hou, Yongwei Guo, Jinhua Liu, Senmao Li, Wanlin Fan, Ming Lin, Alexander C. Rokohl, and Ludwig M. Heindl have no financial or proprietary interest in any material or method mentioned in the manuscript. All authors have full control of all primary data, and they agree to allow to review their data upon request.

Additional information

Funding

Supported by the Koeln Fortune Program/Faculty of Medicine, University of Cologne, Germany (grant no.: 2680148101) and the State Scholarship Fund from China Scholarship Council (grant no.:201708080141); National Natural Science Foundation of China (grants 81970834); Science and Technology Commission of Shanghai Municipality (grants 19441900800). The funding organizations had no role in the design or conduct of this research. The author(s) have no proprietary or commercial interest in any materials and devices discussed in this article.