Table 2.
Clinical Characteristics and Molecular Pathology of Subjects with TTLL5-Associated Retinopathy
| Subject (Family ID) | Age at Presentation | Age at Examination |
LogMAR Visual Acuity |
Refraction |
Electrophysiology (Age when Tested) | TTLL5 Mutations and Predicted Protein Changes | Other Features | ||
|---|---|---|---|---|---|---|---|---|---|
| Right | Left | Right | Left | ||||||
| CD1 (gc18728) | 34 years | 38 years | 0.20 | 0.20 | −1.25 DS | −0.75/−075 × 180 | undetectable PERGs, normal DA ERGs, mildly subnormal LA ERGs (35 years) | c.[1586_1589delAGAG];[1586_1589delAGAG], p.[Glu529Valfs∗2];[Glu529Valfs∗2] | has two children |
| CD2 (gc19552) | 28 years | 45 years | 1.80 | 1.80 | emmetropia | emmetropia | undetectable PERGs, borderline DA ERGs, subnormal LA ERGs (39 years) | c.[401delT(;)3354G>A], p.[Leu134Argfs∗45(;)Trp1118∗] | has four children, one of whom is reported to have glaucoma |
| CD3 (gc16138) | <5 years | 46 years | 1.44 | 1.50 | −16.50/−3.50 × 20 | −16.50/−3.50 × 120 | undetectable PERGs, markedly subnormal DA ERGs, residual LA ERGs (39 years) | c.[1627G>T];[1627G>T], p.[Glu543∗];[Glu543∗] | bilateral mixed hearing loss and hearing aids since 42 years of age |
| CD4 (gc16138) | <5 years | 50 years | 2.00 | 1.50 | high myopia | high myopia | not tested | c.[1627G>T];[1627G>T], p.[Glu543∗];[Glu543∗] | right pseudophakia since 31 years of age |
| CD5 (gc19420) | 52 years | 53 years | 0.48 | 0.48 | +0.50/−3.00 × 85 | +1.00/−3.00 × 95 | undetectable PERGs, borderline DA ERGs, markedly subnormal LA ERGs (53 years) | c.[1627G>A];[1627G>A], p.[Glu543Lys];[Glu543Lys] | left amblyopia and convergent squint correction at 55 years of age |
Subjects CD1 and CD2 and the sibling pair of subjects CD3 and CD4 were born to consanguineous parents. All affected individuals presented with problems with central vision; subject CD1 also reported difficulty adapting from light to dark. Electroretinograms were performed according to the International Society for Clinical Electrophysiology of Vision minimum standards. The cDNA is numbered according to Ensembl transcript ENST00000298832 and RefSeq NM_015072.4. Abbreviations are as follows: DA, dark adapted; ERG, full-field electroretinogram; LA, light adapted; LogMAR, logarithm of the minimal angle of resolution; and PERG, pattern electroretinogram.