Abstract：
OBJECTIVE: To describe the ocular and renal features, as well as outcomes of retinal detachment repair, in patients with a novel, homozygous laminin β-2 (LAMB2) pathogenic variant.
METHODS: Single-center retrospective chart review of patients with a homozygous variant, c.619T>C p.(Ser207Pro), in the LAMB2 gene.
METHODS: Eleven patients (22 eyes) from 4 families.
METHODS: Demographic data and ocular findings were recorded. Patients were recalled for a detailed renal evaluation.
METHODS: Ocular features, renal features, and outcomes of retinal detachment repair.
RESULTS: The mean age at presentation was 6.0 (range, 1-26) years. None of the study eyes had microcoria, and none of the patients had nephrotic-range proteinuria. The mean refraction and axial length were -7.9 diopters (range, -4.0 to -12.0 diopters) and 25.3 (range, 22.7-27.7) mm, respectively. Eleven eyes (50%) had cataract at presentation. Fifteen eyes had a clear view to the fundus and all showed tessellated myopic fundus, avascular peripheral retina evident clinically or on fluorescein angiography, and rudimentary fovea. Optic disc pallor was observed in 10 eyes (66.7%). Straightened retinal vessels, abnormal vascular emanation (situs inversus) from the optic disc, supernumerary vascular branching at the optic disc, and vascular tortuosity were observed in 10 (66.7%), 2 (13.4%), 2 (13.4%), and 2 (13.4%) eyes, respectively. Discrete areas of punched-out chorioretinal atrophy were observed in 4 (26.7%) eyes. Spectral-domain OCT showed retinal and choroidal thinning in 13 eyes (86.7%), retinoschisis temporal to the fovea in 2 eyes (13.4%), and rudimentary fovea in 15 eyes (100%). Among the 22 eyes, 14 eyes (63.6%) developed rhegmatogenous retinal detachment (RRD), mostly during childhood, of which 5 patients had bilateral RRD. Eight eyes were operated on and 6 (75%) achieved retinal reattachment at the last follow-up. The mean preoperative visual acuity was 20/300 and the mean postoperative visual acuity at the last follow-up was 20/400.
CONCLUSIONS: This study describes a distinct phenotype of LAMB2-related disease with a novel, homozygous LAMB2 variant, and further expands the spectrum of ophthalmic and renal features, and the molecular genetic basis, of LAMB2-related disease. Because the typical microcoria and nephrotic-range proteinuria might be absent, the retinal features can guide the diagnosis.
BACKGROUND: The authors have no proprietary or commercial interest in any materials discussed in this article.
METHODS: Single-center retrospective chart review of patients with a homozygous variant, c.619T>C p.(Ser207Pro), in the LAMB2 gene.
METHODS: Eleven patients (22 eyes) from 4 families.
METHODS: Demographic data and ocular findings were recorded. Patients were recalled for a detailed renal evaluation.
METHODS: Ocular features, renal features, and outcomes of retinal detachment repair.
RESULTS: The mean age at presentation was 6.0 (range, 1-26) years. None of the study eyes had microcoria, and none of the patients had nephrotic-range proteinuria. The mean refraction and axial length were -7.9 diopters (range, -4.0 to -12.0 diopters) and 25.3 (range, 22.7-27.7) mm, respectively. Eleven eyes (50%) had cataract at presentation. Fifteen eyes had a clear view to the fundus and all showed tessellated myopic fundus, avascular peripheral retina evident clinically or on fluorescein angiography, and rudimentary fovea. Optic disc pallor was observed in 10 eyes (66.7%). Straightened retinal vessels, abnormal vascular emanation (situs inversus) from the optic disc, supernumerary vascular branching at the optic disc, and vascular tortuosity were observed in 10 (66.7%), 2 (13.4%), 2 (13.4%), and 2 (13.4%) eyes, respectively. Discrete areas of punched-out chorioretinal atrophy were observed in 4 (26.7%) eyes. Spectral-domain OCT showed retinal and choroidal thinning in 13 eyes (86.7%), retinoschisis temporal to the fovea in 2 eyes (13.4%), and rudimentary fovea in 15 eyes (100%). Among the 22 eyes, 14 eyes (63.6%) developed rhegmatogenous retinal detachment (RRD), mostly during childhood, of which 5 patients had bilateral RRD. Eight eyes were operated on and 6 (75%) achieved retinal reattachment at the last follow-up. The mean preoperative visual acuity was 20/300 and the mean postoperative visual acuity at the last follow-up was 20/400.
CONCLUSIONS: This study describes a distinct phenotype of LAMB2-related disease with a novel, homozygous LAMB2 variant, and further expands the spectrum of ophthalmic and renal features, and the molecular genetic basis, of LAMB2-related disease. Because the typical microcoria and nephrotic-range proteinuria might be absent, the retinal features can guide the diagnosis.
BACKGROUND: The authors have no proprietary or commercial interest in any materials discussed in this article.
摘要：
目的：描述新型纯合层粘连蛋白β-2（LAMB2）致病变种患者的眼部和肾脏特征以及视网膜脱离修复的结果。
方法：单中心回顾性图表回顾LAMB2基因中具有纯合变异c.619T>Cp.(Ser207Pro)的患者。
方法：来自4个家庭的11例患者（22只眼）。
方法：记录人口统计数据和眼部发现。患者被召回进行详细的肾脏评估。
方法：眼部特征，视网膜脱离修复的肾脏特征和结果。
结果：演示时的平均年龄为6.0岁（范围为1至26岁）。研究的眼睛都没有微角膜，并且没有患者有肾病范围的蛋白尿。平均屈光度和轴向长度为-7.9屈光度（范围-4.0至-12.0屈光度）和25.3mm（范围22.7至27.7mm），分别。11只眼（50％）出现白内障。15只眼睛可以清晰地看到眼底，并且都显示出镶嵌的近视眼底，无血管周围视网膜明显临床或荧光血管造影，和基本的中央凹。视盘苍白10只眼(66.7%)。视网膜血管变直,来自视盘的异常血管（反位），在10例（66.7％）中观察到视盘处的多余血管分支和血管弯曲，2（13.4%），2（13.4%），和2只(13.4%)眼睛，分别。在4只（26.7％）眼中观察到穿孔的脉络膜视网膜萎缩的离散区域。SD-OCT显示13眼视网膜和脉络膜变薄（86.7%），2只眼（13.4％）和15只眼（100％）的初级窝。在22只眼睛中，14眼（63.6%）主要在儿童期发生孔源性视网膜脱离（RRD），其中5例患者有双侧RRD。手术了8只眼，最后一次随访时6只（75％）实现了视网膜复位。术前平均视力（VA）为20/300，末次随访时术后平均VA为20/400。
结论：这项研究描述了LAMB2相关疾病的独特表型，具有新的纯合LAMB2变体，并进一步扩展了眼科和肾脏特征的范围。LAMB2相关疾病的分子遗传学基础。由于典型的微珊瑚和肾病范围的蛋白尿可能不存在，视网膜特征可以指导诊断。
方法：单中心回顾性图表回顾LAMB2基因中具有纯合变异c.619T>Cp.(Ser207Pro)的患者。
方法：来自4个家庭的11例患者（22只眼）。
方法：记录人口统计数据和眼部发现。患者被召回进行详细的肾脏评估。
方法：眼部特征，视网膜脱离修复的肾脏特征和结果。
结果：演示时的平均年龄为6.0岁（范围为1至26岁）。研究的眼睛都没有微角膜，并且没有患者有肾病范围的蛋白尿。平均屈光度和轴向长度为-7.9屈光度（范围-4.0至-12.0屈光度）和25.3mm（范围22.7至27.7mm），分别。11只眼（50％）出现白内障。15只眼睛可以清晰地看到眼底，并且都显示出镶嵌的近视眼底，无血管周围视网膜明显临床或荧光血管造影，和基本的中央凹。视盘苍白10只眼(66.7%)。视网膜血管变直,来自视盘的异常血管（反位），在10例（66.7％）中观察到视盘处的多余血管分支和血管弯曲，2（13.4%），2（13.4%），和2只(13.4%)眼睛，分别。在4只（26.7％）眼中观察到穿孔的脉络膜视网膜萎缩的离散区域。SD-OCT显示13眼视网膜和脉络膜变薄（86.7%），2只眼（13.4％）和15只眼（100％）的初级窝。在22只眼睛中，14眼（63.6%）主要在儿童期发生孔源性视网膜脱离（RRD），其中5例患者有双侧RRD。手术了8只眼，最后一次随访时6只（75％）实现了视网膜复位。术前平均视力（VA）为20/300，末次随访时术后平均VA为20/400。
结论：这项研究描述了LAMB2相关疾病的独特表型，具有新的纯合LAMB2变体，并进一步扩展了眼科和肾脏特征的范围。LAMB2相关疾病的分子遗传学基础。由于典型的微珊瑚和肾病范围的蛋白尿可能不存在，视网膜特征可以指导诊断。
