Novel Mutations in the PAX6 Gene in Type I in Central Foveal Hypoplasia (FVH1): Case Report

Zheng F, Hui Y, Songjian G, Weiwei X and Xue Y

Department of Ophthalmology, Pediatric Hospital of Fudan University (Xiamen Hospital), China Clinical Focus of Pediatric Surgery, Pediatric Hospital of Fudan University (Xiamen Hospital), China Xiamen Ophthalmology Center Affiliated with Xiamen University, China

^*Correspondance to: Fu Zheng 

 PDF  Full Text DOI: 10.25107/2474-1647.3713

Abstract

Purpose: Foveal Hypoplasia (FH) is a rare retinal disease; we report a case of the medical records and genetic confirmation of the PAX6 gene in a child with FVH1. Case Report: A 6-year-old Chinese boy presented to our hospital for visual developmental impairment. Born at term without systemic abnormalities. Both eyes had positive ocular position, with a decimal Best Corrected Visual Acuity (BCVA) of 20/50, right eye of 20/60, diopter of -1.00DC and left eye, 20/50, and diopter of -1.50DC. The child did not have a nystagmus. Slit lamp examination revealed normal cornea, anterior chamber, iris, and lens. The retinal vessels on bilateral fundus examination were symmetrical and without distortion. However, the retinal fovea was not reflective. SD-OCT showed that there was no obvious central retinal pit in the right eye, the shallow central retinal pit in the left eye, and the persistence of the inner retina. The ERG results showed a decrease in both binocular and darkroom visual functions. The parents had no ocular abnormalities. Discussion: The case had signs and symptoms of visual development disorder. The SD-OCT images showed the lack of a prominent macular central pit. Examination of the PAX6 gene revealed that the child had a novel heterozygous mutation c.127_135del (p.Ser43_Ile45del). Conclusion: A heterozygous mutation in the PAX6 gene can cause FVH1. FVH1 is difficult to diagnose, but a detailed observation of its macular foveal structure and the whole-exon detection of its genes can help to identify patients with FVH1.

Keywords

Isolated macular foveal dysplasia; FVH1; PAX6; Case report

Cite the article

Zheng F, Hui Y, Songjian G, Weiwei X, Xue Y. Novel Mutations in the PAX6 Gene in Type I in Central Foveal Hypoplasia (FVH1): Case Report. Clin Surg. 2024; 9: 3713..