SR40

Senior-Loken Syndrome (IB4)

Female

Female

SR40

Senior-Loken Syndrome (IB4)

Female

Female

Highlighted Images

Age at visit: 10 years (Visit 2)
OD OS

History

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.
Refraction OD:     +7.50 +1.00 x 95
Refraction OS:     +8.00 +1.00 x 80

Pedigree

Teaching Points

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: 5 years
Age at visit: 6 years
Age at visit: 7 years
Age at visit: 8 years
Age at visit: 8 years (Visit 2)
Age at visit: 10 years
Age at visit: 10 years (Visit 2)
Age at visit: 11 years
Age at visit: 14 years
Age at visit: 17 years
Age at visit: 19 years

Diagnosis & molecular findings

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
Gene:
Allele 1:
IVS29-2 A>G
Allele 2:
Gly212Arg G(GG)>A(GG)
Inheritance:
AR
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