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Saleh et al. J Transl Genet Genom 2021;5:250-64 https://dx.doi.org/10.20517/jtgg.2021.23 Page 254
33 c.5714+5G>A p.? c.5882G>A p.(Gly1961Glu) 2
34 c.214G>A p.(Gly72Arg) c.3113C>T p.(Ala1038Val) 3
35 c.643C>T p.(Arg212Cys) c.3292C>T p.(Arg1098Cys) 3
36 c.1819G>A p.(Gly607Arg) c.5882G>A p.(Gly1961Glu) 2
37 c.454C>T(;)6148G>C p.(Arg152*) c.656G>C(;)2588G>C(;)5603A>T p.[(Arg219Thr)(;)(Gly863Ala, G863del)(;)(Asn1868Ile) 3
38 c.5882G>A p.(Gly1961Glu) c.5917del p.(Val1973*) 2
39 c.768G>T p.[(Val256=),(Leu257Valfs*17)] c.5603A>T p.(Asn1868Ile) 2
40 c.768G>T p.[(Val256=),(Leu257Valfs*17)] c.6225C>G p.(Asn2075Lys) 3
41 c.5461-10T>C(;)5603A>T p.(Thr1821Valfs*13)/p.(Thr1821Aspfs*6) c.4539+859C>T;5603A>T p.?;(Asn1868Ile) 2
42 c.5917del p.(Val1973*) c.5917del p.(Val1973*) 3
43 c.5882G>A p.(Gly1961Glu) c.5917del p.(Val1973*) 2
44 c.288C>A(;)5882G>A) p.(Asn96Lys)(;)(Gly1961Glu) c.3322C>T p.(Arg1108Cys) 3
45 c.2588G>C(;)5603A>T p.[Gly863Ala,Gly863del](;)(Asn1868Ile) c.6229C>T p.(Arg2077Trp) 3
46 c.3407G>A p.(Gly1136Glu) c.5509C>G p.(Pro1837Ala) 3
47 c.481G>A(;)5381C>A p.(Glu161Lys)(;)(Ala1794Asp) c.5329A>T p.(Met1777Leu) 3
48 c.1622T>C p.(Leu541Pro) c.5603A>T p.(Asn1868Ile) 2
49 C.6176G>A;5603A>T p.(Gly2059Asp);(Asp1868Ile) c.5603A>T p.(Asn1868Ile) 2
50 c.1958G>T p.(Arg653Leu) c.5461-10T>C(;)5603A>T p.(Thr1821Valfs*13)/p.(Thr1821Aspfs*6) 3
51 c.6601_6602del p.(Arg2201Alafs*49) c.4253+43G>A p.[=,Ile1377Hisfs*3] 3
52 c.2565_2572del p.(Trp855*) c.4610C>T p.(Thr1537Met) 3
Reference sequence ABCA4: NM_000350.3. Patients assigned to Group 1 carry a single (likely) pathogenic mutation with or without an additional variant of unknown significance, patients in Group 2 carry a (likely)
pathogenic in addition to a mild mutation, and patients assigned to Group 3 carry two (likely) pathogenic mutations.
combination of atrophy and SRM (n = 3), a combination of atrophy and unilateral foveal focal choroidal excavation (n = 2), and bilateral foveal cavitation (n =
1) [Figures 1-7]. In one patient (#52), a combination of atrophy and SRM was seen on the right eye, whereas the left eye showed SRM but no atrophic lesions.
In addition, unilateral midperipheral focal choroidal excavation was observed in another patient [Figure 6].
In 15/52 patients (28.8%), on both eyes no lesions beyond the area covered by M-OCT were observed either at the initial examination or at follow-up visits. In
37/52 patients (71.2%), retinal alterations extended beyond the area covered by M-OCT, which was unilateral only in one patient (#38). The areas involved
included temporal extension of macular involvement, lesions nasal of the disc, lesions beyond the vascular arcades, or lesions continuous towards the
periphery. The severity of findings varied as SRM (n = 16), atrophic lesions and SRM (n = 15), focal atrophic lesions (n = 3), marked outer retinal
disorganization (n = 2), and marked outer retinal disorganization in a scalloped pattern (n = 1). In addition, W-OCT revealed bilateral dome-shaped bulbus
