Table 1 Features of nanophthalmos patient (Nan3) with a Thr518Met MYRF variant. Allele frequencies of MYRF variants Pro263Pro and Thr518Met were obtained from gnomad.broadinstitute.org
From: Nanophthalmos patient with a THR518MET mutation in MYRF, a case report
Ocular features relevant to nanophthalmos | OD | OS |
Hyperopia | + 7.00 + 0.50 × 90 | + 7.00 + 0.50 × 90 |
Central corneal thickness | 640 μm | 616 μm |
Ultrasound measurements | ||
Axial eye length | 18.1 mm | 18.3 mm |
Anterior chamber depth | 2.2 mm | 2.4 mm |
Lens | 4.3 mm | 4.1 mm |
Scleral thickness | 1.95 mm | 1.95 mm |
Ocular hypertension | ||
Maximum IOP | 53 mmHg | 60 mmHg |
Other ocular features | ||
Cornea | ||
Horizontal diameter | 10.5 mm | 10.5 mm |
Retina | Chorioretinal scars | |
Systemic features | ||
Central Nervous System | Posterior fossa cyst | |
Genetic testing results | ||
MYRF: c.1553C > T, p.Thr518Met (rs562652459) | ||
Allele frequency | ||
University of Iowa database (n = 362 controls) | 0 | |
gnomAD database (n = 61,642 Non-Finnish Europeans) | 0.000024 | |
Variant analysis (estimation of pathogenicity) | ||
Blosum62 | −1 | |
Polyphen | 0.677 (Probably damaging) | |
CADD | − 21.5 (1% most deleterious) | |
SIFT | Tolerated | |