Abstract：
UNASSIGNED: Pediatric rhegmatogenous retinal detachments, especially those presenting at birth or soon afterward, have a high likelihood of syndromic associations that can be confirmed by genetic testing.
UNASSIGNED: A 5-month-old child was found to have high myopia in the right eye (RE) with highly tessellated fundus, opalescent vitreous, and peripheral thinning. Left eye had a shallow retinal detachment for which he underwent belt buckling. The baby had an occipital skin tag. A provisional diagnosis of Stickler syndrome was made.
UNASSIGNED: On 1-month follow-up, left eye retina was attached and 360° laser barrage was done. Fluorescein angiography was done which revealed peripheral avascular retina in both eyes. MRI and genetic testing were suggestive of syndromic association. Genetic testing revealed pathogenic mutation in COL 18A1 suggestive of Knobloch syndrome in the baby, and both parents were found to be carriers of the same mutation. However, brain MRI showed features not pathognomonic of Knobloch syndrome.
UNASSIGNED: Although Knobloch syndrome is associated with vitreoretinal degeneration and high risk of retinal detachment, there seems to be no recommendation for prophylaxis in the other eye and therefore we preferred to observe the RE closely. A unique feature noted in our case was the peripheral avascular zone (PAZ). The PAZ could be contributed by multiple factors such as high myopia, or due to endostatin deficiency (which is a derivative of collagen XVIII) or an underlying WNT signalling abnormality.
UNASSIGNED: A 5-month-old child was found to have high myopia in the right eye (RE) with highly tessellated fundus, opalescent vitreous, and peripheral thinning. Left eye had a shallow retinal detachment for which he underwent belt buckling. The baby had an occipital skin tag. A provisional diagnosis of Stickler syndrome was made.
UNASSIGNED: On 1-month follow-up, left eye retina was attached and 360° laser barrage was done. Fluorescein angiography was done which revealed peripheral avascular retina in both eyes. MRI and genetic testing were suggestive of syndromic association. Genetic testing revealed pathogenic mutation in COL 18A1 suggestive of Knobloch syndrome in the baby, and both parents were found to be carriers of the same mutation. However, brain MRI showed features not pathognomonic of Knobloch syndrome.
UNASSIGNED: Although Knobloch syndrome is associated with vitreoretinal degeneration and high risk of retinal detachment, there seems to be no recommendation for prophylaxis in the other eye and therefore we preferred to observe the RE closely. A unique feature noted in our case was the peripheral avascular zone (PAZ). The PAZ could be contributed by multiple factors such as high myopia, or due to endostatin deficiency (which is a derivative of collagen XVIII) or an underlying WNT signalling abnormality.
摘要：
■小儿血源性视网膜脱离，尤其是那些在出生时或出生后不久出现的人，有很高的可能性的综合征关联，可以通过基因检测证实。
■一名5个月大的儿童被发现右眼高度近视，眼底高度镶嵌，乳白色玻璃体，和外围变薄。左眼患有浅视网膜脱离，因此他进行了腰带屈曲。婴儿有枕骨皮肤标签。对Stickler综合征进行了临时诊断。
■在1个月的随访中，连接左眼视网膜并进行360°激光弹幕。进行了荧光素血管造影，发现两只眼睛的周围无血管视网膜。MRI和基因检测提示综合征相关。基因检测显示COL18A1中的致病性突变提示婴儿的Knobloch综合征，发现父母双方都是相同突变的携带者。然而,脑MRI显示的特征不是Knobloch综合征的病理特征。
■尽管Knobloch综合征与玻璃体视网膜变性和视网膜脱离的高风险相关，似乎没有建议对另一只眼进行预防,因此我们倾向于密切观察RE.在我们的案例中指出的独特特征是外周无血管区（PAZ）。PAZ可能是由多种因素造成的，例如高度近视，或由于内皮抑素缺乏（它是胶原蛋白XVIII的衍生物）或潜在的WNT信号传导异常。
■一名5个月大的儿童被发现右眼高度近视，眼底高度镶嵌，乳白色玻璃体，和外围变薄。左眼患有浅视网膜脱离，因此他进行了腰带屈曲。婴儿有枕骨皮肤标签。对Stickler综合征进行了临时诊断。
■在1个月的随访中，连接左眼视网膜并进行360°激光弹幕。进行了荧光素血管造影，发现两只眼睛的周围无血管视网膜。MRI和基因检测提示综合征相关。基因检测显示COL18A1中的致病性突变提示婴儿的Knobloch综合征，发现父母双方都是相同突变的携带者。然而,脑MRI显示的特征不是Knobloch综合征的病理特征。
■尽管Knobloch综合征与玻璃体视网膜变性和视网膜脱离的高风险相关，似乎没有建议对另一只眼进行预防,因此我们倾向于密切观察RE.在我们的案例中指出的独特特征是外周无血管区（PAZ）。PAZ可能是由多种因素造成的，例如高度近视，或由于内皮抑素缺乏（它是胶原蛋白XVIII的衍生物）或潜在的WNT信号传导异常。
