Coats' reaction and angiomas of the retina from mutations affecting telomere maintenance

Purpose To describe retinal abnormalities other than Coats’ reaction in 4 of 6 Finnish patients with CRMCC, also known as Coats’ plus. Methods An observational series of genotyped children imaged with RetCam. The children (5 girls, 1 boy) were born prematurely on gestational week 30-39 and were small for date with birth weights from 770 to 2170 g. Four are alive at age 4-22 y and two have died at age 6 and 18 y. Results Of the 6 children, 2 presented with bilateral, asymmetric Coats’ reaction at age 7 and 11 months. The more advanced eye had an exudative retinal detachment (RD). Three children had retinal angiomas without exudation, accompanied with preretinal and vitreous bleedings, and abnormally running circular vascular loops at age 2-11 months. In two of the latter, traction RD developed. Regardless of the phenotype, the retina peripheral to the vascular anomalies was avascular but without ROP changes. One patient did not have clinically visible retinal vascular anomalies. All patients with retinal changes had the common c.1994T>G [p.Val665Gly] mutation, three with c.2831delC [p.Pro944Leufs*7] and one each with c.3583C>T [p.Arg1195*] and c.3425_3426delTCinsAT [p.Leu1142His] mutations. The genotype did not predict the phenotype. The patient without retinal changes had c.680C>T [p.Ala227Val] mutation with c.2831delC [p.Pro944Leufs*7]. Other Finnish patients with the latter ccombination have had retinal changes since early childhood. Conclusion It is important to appreciate that CRMCC can present with retinal phenotypes other than Coats’ reaction, and a minority may not have any visible retinal changes. Also angiomas call for neuroimaging to identify brain cysts and calcifications which characterize CRMCC