Table 1 Clinical characteristics and exome sequencing results of the two patients
From: Genetic analysis assists diagnosis of clinical systemic disease in children with excessive hyperopia
Information | Case 1 | Case 2 |
|---|---|---|
Age | 3 yr | 8 yr |
Sex | Male | Male |
BCVA (OD/OS) | HM 50 cm/HM 50 cm | 0.1+/0.1 |
Hyperopia | + 10.00 D (OU) | + 14.50 D (OU) |
Amblyopia | Severe | Severe |
Exotropia | -30° | -5° ~ −20° |
Nystagmus | Yes | No |
AL (OD/OS) | 18.5 mm/18.3 mm | 15.9 mm/15.9 mm |
ACD (OD/OS) | 2.7 mm/2.7 mm | 2.9 mm/2.9 mm |
LT (OD/OS) | 3.5 mm/3.6 mm | 4.2 mm/4.3 mm |
Keratic curvature (OD/OS) | / | 48.4 D/48.0 D |
Fundus | The edge of the optic disc and its surroundings seemed to be thickened and the reflection of the macula was absent | Crowded optic disc, small optic cup and narrowed blood vessels around the macula were present |
Mutated genes | IQCB1 | PRSS56 |
Pathogenic variants | c.1090C > T, p.(R364*) and c.1333C > T, p.(R445*) complex heterozygous mutations | c.632G > C, p.(C211S) and c.1066dup, p.(Q356Pfs) complex heterozygous mutations |
Disease(s) | SLSN5(OMIM# 609254) | MCOP6(OMIM#613517) |