This 43 year old woman first noticed some reduction in visual acuity in both eyes at age 14. Her visual acuity had been previously normal.
|Refraction OD:    ||-3.00 +0.75 x 135|
|Refraction OS:    ||-4.25 +0.50 x 050|
The clinical features favoring the diagnosis of ELOVL4-associated Stargardt-like dominant macular dystrophy include: loss of acuity in the second decade; horizontally oval geographic atrophy centered on fixation and surrounded by yellow pisciform flecks; and, a family history compatible with autosomal dominant disease.
|Disease||Gene||Allele 1 variant(s)||Allele 2 variant(s)||Inheritance mode|
|AD Stargardt Disease||ELOVL4||Leu263 del5tttCTTAA||AD|