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