Department of Ophthalmology, Federal University of São Paulo, São Paulo, Brazil.
Department of Ocular Genetics, Instituto De Genética Ocular, São Paulo, Brazil.
Ophthalmic Genet. 2020 Apr;41(2):189-193. doi: 10.1080/13816810.2020.1747084. Epub 2020 Apr 9.
Microcephaly and chorioretinopathy (MCCRP) is a rare neuro-ophthalmologic disorder that causes microcephaly and chorioretinopathy. In a recessive inheritance pattern, there are three types: MCCRP1; MCCRP2 and MCCRP3. MCCRP3 results from pathogenic variants in the ( gene. This is a case report of a patient with a molecular diagnosis defined by mutations in the gene. Segregation analyses were carried out. The molecular investigation found two heterozygous variants c.1380 G > A (p.Trp460*) a novel nonsense variant, and c.1746 G > T (p Leu582=) a synonymous variant in . The clinical phenotype was characterized by microcephaly, microphthalmia, chorioretinopathy, a punched-out retinal appearance, dysmorphic facial features, decreased visual acuity, and learning difficulties. The clinical features were similar to those described previously in children with MCCRP3. The proband also had additional features including centripetal obesity, stretch marks, acanthosis nigricans, scoliosis, and hypercholesterolemia. These other features could be part of a ciliopathy syndrome. MCCRP2 caused by pathogenic variants in is well established as a ciliopathy disease. The role of is not well established in the cilium physiology. MCCRP3 may be part of the ciliopathy spectrum.
小头并脉络膜视网膜病变（MCCRP）是一种罕见的神经眼科疾病，可导致小头和脉络膜视网膜病变。在隐性遗传模式中，存在三种类型：MCCRP1；MCCRP2 和 MCCRP3。MCCRP3 是由 （基因中的致病变异引起的。这是一例通过 基因中的突变进行分子诊断定义的患者病例报告。进行了分离分析。分子研究发现了两个杂合变体 c.1380G>A (p.Trp460*)，这是一种新的无义变异，以及 c.1746G>T (p.Leu582=)，这是 中的同义变异。临床表型的特征是小头畸形、小眼球、脉络膜视网膜病变、视网膜凿孔样外观、面部畸形、视力下降和学习困难。临床特征与先前描述的 MCCRP3 患儿相似。先证者还具有其他特征，包括向心性肥胖、妊娠纹、黑棘皮病、脊柱侧凸和高胆固醇血症。这些其他特征可能是纤毛病综合征的一部分。由 （基因中的致病变异引起的 MCCRP2 已被确定为纤毛病疾病。 （基因在纤毛生理学中的作用尚未得到很好的确定。MCCRP3 可能是纤毛病谱的一部分。
