Crespí Jaume, Buil José A, Bassaganyas Francisca, Vela-Segarra José I, Díaz-Cascajosa Jesús, Ayala-Ramírez Raul, Zenteno Juan C
Department of Ophthalmology, Autonomous University of Barcelona, Hospital de Sant Pau y de la Santa Creu, Barcelona, Spain.
Am J Ophthalmol. 2008 Aug;146(2):323-328. doi: 10.1016/j.ajo.2008.04.029. Epub 2008 Jun 13.
To describe the clinical and genetic characteristics of the second family with a recently described recessive syndrome characterized by posterior microphthalmos, retinitis pigmentosa, foveoschisis, and optic disk drusen.
Observational case report.
Three affected subjects and one healthy sibling from a consanguineous marriage from Spain were studied. Complete ophthalmologic examinations including A- and B-mode ultrasonography (US), electroretinography (ERG), fluorescein retinal angiography (FA), and optical coherence tomography (OCT) were performed in each individual. Genetic analysis included polymerase chain reaction amplification and direct nucleotide sequencing of the complete MFRP gene.
All three affected siblings had bilateral shortening of the posterior ocular segment associated with high hyperopia and normal anterior segment dimensions. Best-corrected visual acuity ranged from 20/200 to 20/60. Funduscopy, ERG, and FA were compatible with retinitis pigmentosa, and B-mode ultrasound showed optic disk drusen. OCT analysis revealed outer retinal layer schisis with absence of foveal pit. Inheritance of this syndrome followed an autosomal recessive pattern. Molecular analysis revealed a novel homozygous 1-bp deletion (c.498delC) in exon 5 of MFRP, predicting a prematurely truncated protein (P166fsX190). A healthy sister demonstrated to be a carrier of the mutation.
We confirmed that the syndrome of posterior microphthalmos, retinitis pigmentosa, foveoschisis, and optic disk drusen constitutes a distinct autosomal recessive entity. The novel frameshift mutation identified in the family described here validates MFRP as the gene responsible for this particular disease, which characteristically involves structures located at the posterior segment of the eye.
描述第二个家族的临床和遗传特征，该家族患有一种最近描述的隐性综合征，其特征为小眼球后段、色素性视网膜炎、黄斑劈裂和视盘玻璃膜疣。
观察性病例报告。
对来自西班牙近亲结婚家庭的三名患病受试者和一名健康同胞进行研究。对每个人进行了全面的眼科检查，包括A和B型超声检查（US）、视网膜电图（ERG）、荧光素视网膜血管造影（FA）和光学相干断层扫描（OCT）。基因分析包括对完整的MFRP基因进行聚合酶链反应扩增和直接核苷酸测序。
所有三名患病同胞均有双侧眼球后段缩短，伴有高度远视，眼前段尺寸正常。最佳矫正视力范围为20/200至20/60。眼底检查、ERG和FA与色素性视网膜炎相符，B型超声显示视盘玻璃膜疣。OCT分析显示外层视网膜劈裂，无黄斑中心凹。该综合征的遗传遵循常染色体隐性模式。分子分析显示MFRP基因第5外显子有一个新的纯合1碱基缺失（c.498delC），预测会产生一个过早截断的蛋白质（P166fsX190）。一名健康的姐妹被证明是该突变的携带者。
我们证实了小眼球后段、色素性视网膜炎、黄斑劈裂和视盘玻璃膜疣综合征构成一种独特的常染色体隐性疾病实体。在此描述的家族中鉴定出的新的移码突变证实MFRP是导致这种特殊疾病的基因，该疾病的特征是累及位于眼球后段的结构。
