Patient's question:
My child is seven years old and has just started first grade. After half a semester, we noticed that their vision is not good. When checked at the hospital, it was found that the macula is underdeveloped. Why is this happening? What should we do?Doctor's answer:
Hello: Macular developmental anomaly with abnormal anastomosis of vessels is also known as macular defect combined with vascular abnormality, a congenital anomaly. Patients may have a family history or genetic history. Congenital macular abnormalities are not uncommon in China, with reports occasionally appearing in the literature, but macular developmental anomalies accompanied by abnormal vessel anastomosis are rare cases.According to the degree of scleral exposure and the amount of pigment, macular defects are classified into three types: ① Pigment type; ② Non-pigment type; ③ Macular defect (pigment type or non-pigment type). Vascular abnormalities are relatively rare, and this case belongs to the third type. The disease is generally not detected at birth but is discovered during early childhood due to poor vision. This case involved a single eye, with vision decline noticed during early childhood.
The fundoscopic manifestations of macular defects are diverse. The defect may be located in the macula or near it, appearing flat or slightly concave. Its shape, size, and color range from pale with minimal pigment to dense brown, measuring 1 to 10 PD in size. The retinal vessels within the defect may be normal, curved, tortuous, or anastomosed with vessels originating from the defect. Vessels originating from the defect may also enter the vitreous or extend toward the lens. In this case, the defect was located in the macular area, approximately 1 PD in size, with an irregular elliptical shape, grayish-white in color, and surrounded by pigment. Two vessels emerged from the center, converged, and anastomosed with a branch of the temporal inferior artery of the retina.
The true etiology of macular defects is unclear. In the past, it was thought to be related to incomplete closure of the embryonic fissure and abnormal development of the inner and outer layers of the optic cup. Today, most believe it is caused by intrauterine infection leading to inflammation of the choroid in utero. The different types are attributed to varying times of infection and tissue responses.