Later retinal degeneration following childhood surgical aphakia in a family with recessive CRYAB mutation (p.R56W).

Khan AO; Abu Safieh L; Alkuraya FS

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Later retinal degeneration following childhood surgical aphakia in a family with recessive CRYAB mutation (p.R56W).

机译：在患有隐性CRYAB突变的家庭中，儿童期手术后无晶状体发生之后的视网膜变性（p.R56W）。

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PURPOSE: To describe later retinal degeneration following childhood cataract surgery without intraocular lens implantation in a consanguineous family with developmental cataract from homozygous p.R56W mutation in CRYAB, a gene that encodes a heat-shock protein (alphaB-crystallin) in both retina and the lens. METHODS: Prospective ophthalmologic examination and venous blood sampling for diagnostic CRYAB sequencing in the 12 available family members (7 siblings and their 2 parents, the siblings' maternal aunt and her son, and the siblings' maternal grandmother). RESULTS: Those who underwent childhood cataract surgery (2 siblings, their mother, their maternal aunt) or who had visually-insignificant lens opacities (2 siblings, their maternal grandmother) were homozygous for p.R56W CRYAB mutation. Among these 7 affected family members, clinically-obvious rod-cone degeneration was present only in the only 2 adults who were aphakic since childhood from cataract surgery. CONCLUSIONS: Recessive p.R56W CRYAB mutation shows variable expressivity for lens opacity. Decades of aphakia increases retinal light exposure and may be an environmental risk factor for significant retinal degeneration in patients homozygous for the mutation.

机译：目的：描述儿童白内障手术后未发生近眼变性的近眼家庭，该近亲家庭来自CRYAB的纯合p.R56W突变的发展性白内障。镜片。方法：对12个可用家庭成员（7个兄弟姐妹和他们的2个父母，兄弟姐妹的外婆和她的儿子，以及兄弟姐妹的外祖母）进行了眼科前瞻性检查和静脉血取样，以进行CRYAB诊断。结果：那些接受了儿童白内障手术（两个兄弟姐妹，他们的母亲，他们的母亲姨妈）或那些视力不明显的晶状体混浊（两个兄弟姐妹，他们的外婆）的人是p.R56W CRYAB突变的纯合子。在这7个受影响的家庭成员中，只有童年以来因白内障手术而无晶状体的仅有2位成年人存在临床上明显的杆锥变性。结论：隐性p.R56W CRYAB突变显示晶状体混浊的可变表达。数十年的无晶状体会增加视网膜的曝光，并且可能是纯合突变患者视网膜严重变性的环境危险因素。

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《Ophthalmic genetics》 |2010年第1期|共7页
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Khan AO; Abu Safieh L; Alkuraya FS;
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1. Later retinal degeneration following childhood surgical aphakia in a family with recessive CRYAB mutation (p.R56W). [J] . Khan AO, Abu Safieh L, Alkuraya FS Ophthalmic genetics . 2010,第1期

机译：在患有隐性CRYAB突变的家庭中，儿童期手术后无晶状体发生之后的视网膜变性（p.R56W）。
2. Mutations in NR2E3 can cause dominant or recessive retinal degenerations in the same family. [J] . Escher P, Gouras P, Roduit R, Human mutation . 2009,第3期

机译：NR2E3中的突变可导致同一家族中的显性或隐性视网膜变性。
3. Novel homozygous mutation in the SPATA7 gene causes autosomal recessive retinal degeneration in a consanguineous German family [J] . Feldhaus Britta, Kohl Susanne, Hoertnagel Konstanze, Ophthalmic genetics . 2018,第1期

机译：蜘蛛7基因的新型纯合突变导致近亲德国家庭中的常染色体隐性视网膜变性
4. The role of ER quality control and protein misfolding in retinal degeneration caused by a mutation in rhodopsin. [D] . Rajan, Rahul Sunder. 2003

机译：ER质量控制和蛋白错误折叠在视紫红质突变引起的视网膜变性中的作用。
5. Mutations in NR2E3 can cause dominant or recessive retinal degenerations in a same family [O] . Pascal Escher, Peter Gouras, Raphaël Roduit, -1

机译：NR2E3中的突变可导致同一家族中的显性或隐性视网膜变性
6. Mutations in NR2E3 can cause dominant or recessive retinal degenerations in the same family. [O] . Escher, P., Gouras, P., Roduit, R., 2009

机译：NR2E3中的突变可导致同一家族中的显性或隐性视网膜变性。

Later retinal degeneration following childhood surgical aphakia in a family with recessive CRYAB mutation (p.R56W).

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