This 10 year old girl had hyperopia and esotropia that brought her to medical attention at age 2. Reduced acuity and night blindness were discovered at that time. An ERG was performed that was non-recordable. Hypertension and renal dysfunction were discovered at age 7.
Color Vision: | Correctly named 8/8 Ishihara pseudoisochromatic plates OD and 7/8 OS. |
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Refraction OD: | +7.50 +1.00 x 95 |
Refraction OS: | +8.00 +1.00 x 80 |
The clinical features supporting the diagnosis of Senior Loken syndrome in this patient include: night blindness and reduced acuity noted before the fourth birthday; a non-recordable ERG; constricted visual fields; pink optic nerve heads; hyperopia; abnormal renal function; and, normally sighted parents.
Age at visit: 6 years |
OD | |||
---|---|---|---|
Age at visit: 8 years |
Age at visit: 10 years (Visit 2) |
Age at visit: 11 years |
Age at visit: 14 years |
Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
---|---|---|---|---|
Senior-Loken Syndrome | IFT140 | IVS29-2 A>G | Gly212Arg G(GG)>A(GG) | AR |