Table 1 of Mackay, Mol Vis 2010; 16:369-377.


Table 1. Comparison of published MERTK phenotypes.

Mutation Age of Onset Age at Exam VA in LogMAR Visual fields Fundus OCT ERG Ref
Hom c.2070_2074 delAGGAC Early childhood 45 NP Small island of remaining central vision NP NP NP [5,11]
Hom c.1605-2A>G Early childhood 34 NP Small island of remaining central vision NP NP NP
Het p.R651X No second mutation detected 12 12, 17 NP Abnormally reduced (age 12) Atrophic retinal lesions; Vessels not particular attenuated (age 17) NP Undetectable rod ERG (age 12)
Het p.R722X Het p.R844C 3 9, 13 0.5 OU (age 9) 20° of central vision with peripheral crescent (age 9) Macular atrophy, bone spicules, dense parafoveal pigmentation, heavy RPE granularity (age 9) NP Undetectable scotopic & photopic responses [8]


1.00 OU (age 13) <5°central vision with peripheral crescent (age 13) Bull’s eye macular atrophy, RPE thinning at periphery (age 13)
Hom c.2214delT 12 16 0.2 OD 0.3 OS Well preserved Bull’s eye macular atrophy, attenuated vessels, pale reflex from the RPE Unremarkable; normal retinal thickness Abnormal scotopic & photopic responses, delayed 30 Hz flicker, undetectable PERG [10]
<10 14 0.2 OU Bull’s eye macular atrophy, attenuated vessels, pale reflex from the RPE, crystals in the macula
10 10 0.0 OU Crystals near the fovea, pale reflex from the RPE Absent scotopic, severely attenuated photopic responses, delayed 30 Hz flicker, barely detectable pERG
9 9 OU NP NP NP NP
Hom c.2189+1G>T Early childhood 5 0.4 OD 0.5 OS NP White-yellowish small subretinal deposits in the macula, mildly attenuated vessels Thinning of neurosensory retina (thin ONL & major alterations to the OLM) Absent scotopic, severely attenuated photopic responses [7,26]
9 0.4 OD 0.5 OS NP Yellowish macular atrophy, mildly attenuated vessels, wrinkled appearance of inner retina
Undetectable scotopic & photopic responses
16 1.0 OD 0.4 OS Well preserved for Goldman III4e, variable concentric constriction for I4e Yellowish macular atrophy, mildly attenuated vessels, wrinkled appearance of inner retina, salt-like pigment mottling at the mid periphery Similar OCT findings; sd-OCT showed debris like material in subneurosensory space
18 0.4 OU
19 0.7 OD 1.3 OS Yellowish macular atrophy, crystalline retinal deposits, mildly attenuated vessels, wrinkled appearance of inner retina, salt-like pigment mottling at the mid periphery and bone spicules in the outer periphery of the LE Similar OCT findings as siblings
Hom Del of ex8 9 26 1.78 OU NP Macular atrophy, attenuated vessels, bone spicules in the mid periphery, pale discs Sd-OCT showed thinning of the ONL and debris like material below the OLM not tested this Study
Early childhood 8 0.32 OU 20-30° of preserved central fields Bull’s eye macular atrophy, bone spicules and granular RPE appearance in the mid periphery not tested
Het p.R651X Het c.61+1G>A 12 22 0.6 OD 1.0 OS Well preserved Focal atrophy at macula, very little intraretinal pigment Severely abnormal scotopic & photopic responses, barely detectable pERG