Appendix 2 of Sun, Mol Vis 2020; 26:588-602.


Appendix 2. Clinical information of 51 new probands with pathogenic variants in ACHM-associated genes.

To access the data, click or select the words “Appendix 2.” ARA= Attenuated retinal arterioles; PFR= Poor foveal reflex; EC= Early childhood; FMB= First few months after birth; NYS= Nystagmus; PV= Poor vision; PP= Photophobia; PFR= Poor foveal reflex; MD= Macular Dtrophy; NA= Not available; PL=Persuing light; PM= Pigmentation in macular; PO= Pursuing object; NFR= No foveal reflex; TDP= Temporal disc pallor; TDC=PIG= Temporal disc coloboma; WPD= Waxy pale discs; RA= Retina atrophy; LF= leopard fundus; CR, crescent; FH= Foveal hypoplasia; EZ= Ellipsoid zone; TR= Thinning retina; MA= Macular atrophy.