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Case Reports
. 2019 Mar;98(11):e14803.
doi: 10.1097/MD.0000000000014803.

Bilateral congenital macular coloboma and cataract: A case report

Canwei Zhang  1 , Peng Wu  1 , Luping Wang  2 , Jing Gao  1 , Xudong Huang  1 , Yaqin Jiang  1
Affiliations
Case Reports

Bilateral congenital macular coloboma and cataract: A case report

Canwei Zhang et al. Medicine (Baltimore). 2019 Mar.

Abstract

Rationale: The case with congenital macular coloboma and cataract was rarely reported, and the pathogenic gene of the disease is still not clear. Moreover, it is difficult to improve the visual acuity of the eye with this disease.

Patient concerns: An 11-year-old boy presented low visual acuity and horizontal nystagmus in both eyes. Ophthalmologic examination showed the patient with bilateral congenital coloboma and cataract. The visual acuity of the patient improved slightly after cataract surgery. Heterozygous mutations of frizzled-4 (FZD4) and nucleotide-binding oligomerization domain-containing protein 2 (NOD2) were identified by next-generation sequencing in this case.

Diagnosis: Congenital macular coloboma and cataract of both eyes.

Interventions: We performed the standard phacoemulsification and intraocular lens implantation on both eyes of the patient for the treatment of congenital cataract, and then followed up the fundus lesions regularly.

Outcomes: Cataract surgery may improve the visual acuity of the eyes with congenital macular coloboma and cataract at some degree, but the vision of this patient was still very poor postoperatively. Furthermore, the heterozygous mutations of FZD4 and NOD2 were found in this patient.

Lessons: Cataract surgery may improve the visual acuity of the eyes with congenital macular coloboma and cataract at some degree, and heterozygous mutations of FZD4 and NOD2 may be involved in the occurrence of congenital macular coloboma and cataract.

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Conflict of interest statement

The authors report no conflicts of interest.

Figures

Figure 1
Figure 1
Anterior segment photograph showed lens opacities in both eyes.
Figure 2
Figure 2
Fundus photographs of the patient.
Figure 3
Figure 3
OCT and FFA imagine of the macular region from both eyes of the patient. FFA = fundus fluorescein angiography, OCT = optical coherence tomography.
Figure 4
Figure 4
mfERG showed that no significant the peak value was found in both eyes. mfERG = multifocal electroretinography.
Figure 5
Figure 5
A heterozygous FZD4 mutation 205C>T (p.H69Y) and a heterozygous NOD2 mutation c. 1118G>A (p.R373H) were identified in the affected case. FZD4 = frizzled-4, NOD2 = nucleotide-binding oligomerization domain-containing protein 2.
See this image and copyright information in PMC

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