Table 2.
Clinical Information of the Probands and Affected Siblings With PAX6 or SLC38A8 Variants Identified in this Study
| Family | Nucleotide Acid | Amino Acid | Age (Years) | Initial | Visual Acuity | OCT | ||
|---|---|---|---|---|---|---|---|---|
| ID | Change | Effect | Gender | At Exam | Symptom | OD; OS | Grade | Fundus |
| A. PAX6 (accession number NM_000280.5) | ||||||||
| 7822-II:1 | c.113G>C | p.Arg38Pro | F | 0.4 | NYS | NA; NA | NA | AFM |
| 8407-II:1 | c.128C>T | p.Ser43Phe | F | 4 | NYS | NA; NA | NA | AFM |
| 8453-II:1 | c.142G>A | p.Val48Met | M | 2.8 | NYS | 0.05*; 0.05* | NA | AFM; VAA |
| 8465-I:1 | c.142G>T | p.Val48Leu | M | 38 | NYS | 0.08; 0.3 | NA | FVH |
| 8465-II:1 | c.142G>T | p.Val48Leu | M | 4 | NYS | NA; NA | NA | AFM |
| 4012-II:1 | c.214G>T | p.Gly72Cys | F | 7 | NYS | 0.1; 0.1 | NA | AFM; VAA; TF |
| 16526-II:1 | c.214G>A | p.Gly72Ser | M | 4 | NYS | NA; NA | NA | AFM; VAA; TF; ODH |
| 5538-II:1 | c.229A>G | p.Arg77Gly | M | 1.2 | NYS | NA; NA | Grade 3 FVH | AFM; VAA |
| 14014-I:2 | c.233T>G | p.Val78Gly | F | 30 | NYS | 0.1; 0.05 | Grade 3 FVH | AFM; TF |
| 14014-II:1 | c.233T>G | p.Val78Gly | M | 6 | NYS | 0.1; 0.05 | Grade 3 FVH | DFM, VAA, TF |
| 14014-II:2 | c.233T>G | p.Val78Gly | M | 5 | NYS | NA; NA | NA | AFM; VAA; TF |
| 17508-II:1 | c.235G>C | p.Ala79Pro | M | 2 | NYS | 0.1*; 0.15* | NA | AFM; VAA; TF |
| 20011-II:1 | c.296C>T | p.Ala99Val | M | 22 | NYS | 0.2; 0.2 | Grade 3 FVH | AFM; VAA |
| 10675-I:1 | c.358G>A | p.Val120Met | M | 37.7 | NYS | NA; NA | Grade 3 FVH | FVH |
| 10675-II:1 | c.358G>A | p.Val120Met | M | 6.8 | NYS | 0.6; 0.3 | Grade 3 FVH | AFM, VAA, TF |
| 17516-II:1 | c.383G>T | p.Arg128Leu | F | 6.2 | NYS | 0.2; 0.2 | Grade 3 FVH | AFM; VAA |
| 18734-II:1 | c.383G>A | p.Arg128His | F | 12.3 | NYS | 0.3*; 0.3* | NA | AFM |
| 6565-I:2 | c.622C>T | p.Arg208Trp | F | 62 | NYS | 0.5; 0.5 | Grade 1 FVH | DFM; ODH (OD) |
| 6565-II:1 | c.622C>T | p.Arg208Trp | F | 36 | NYS | FC; 0.4 | Grade 1 FVH | DFM, ODH (OS) |
| 6565-II:2 | c.622C>T | p.Arg208Trp | M | 31 | NYS | 0.1; 0.2 | Grade 1 FVH | AFM; ODH; VAA |
| 7721-II:1 | c.622C>T | p.Arg208Trp | M | 28 | NYS | 0.05; 0.05 | NA | DFM; ODH; VAA |
| 7721-II:3 | c.622C>T | p.Arg208Trp | F | 36 | NYS | 0.02; 0.05 | NA | DFM; VAA; TF; ODH |
| 17267-II:1 | c.771G>T | p.Trp257Cys | M | 5 | NYS | 0.5; 0.5 | Grade 3 FVH | AFM; ODH; VAA |
| 4926-II:1 | c.1268A>T | p.*423Leuext*14 | F | 6 | NYS | 0.1; 0.1 | Grade 3 FVH | AFM, VAA |
| 14860-I:1 | c.1268A>T | p.*423Leuext*14 | M | 29 | NYS | 0.2; 0.2 | NA | FVH |
| 14860-II:1 | c.1268A>T | p.*423Leuext*14 | F | 4 | NYS | NA; NA | Grade 3 FVH | AFM, VAA, TF |
| B. SLC38A8 (accession number NM_001080442.3) | ||||||||
| 141-II:1 | c.[682G>C]; [689A>G] | p.[Gly228Arg]; [Gln230Arg] | F | 1 | NYS | NA; NA | NA | AFM; TF |
| 20140-II:1 | c.[697G>A]; [697G>A] | p.[Glu233Lys]; [Glu233Lys] | F | 0.5 | NYS | NA; NA | Grade 3 FVH | AFM; TF; ODH |
| 14534-II:1 | c.[697G>A]; [697G>A] | p.[Glu233Lys];[Glu233Lys] | M | 23 | NYS | 0.03; 0.15 | NA | AFM; TF; ODH |
| 15394-II:2 | c.[11delA]; [697G>A] | p.[Gln4Argfs*31]; [Glu233Lys] | M | 0.3 | NYS | NA; NA | Grade 3 FVH | AFM; TF |
| 4517-II:1 | c.[680T>A]; [1170C>A] | p.[Phe227Tyr]; [Cys390*] | F | 5.7 | NYS | 0.1; 0.15 | NA | AFM; TF |
Notes: The above data based on available clinical data from patients. All patients had full iris.
M = male; F = female; OCT = optical coherence tomography; NA = not available; NYS = nystagmus; HM = high myopia; FC = finger counting; FVH = foveal hypoplasia; TF = tessellated fundus; VAA = vascular arcades abnormalities; AFM = absent foveal reflex and macular pigment; DFM = decreased foveal reflex and macular pigment; ODH = optic disk hypoplasia.
*
The visual acuity examination was performed on the proband 8453-II:1 at the age of 4 years, 17508-II:1 at the age of 5 years, and 18734-II:1 at the age of 24 years.