Case
SR355
Student Mode
AD Optic Neuropathy (IIIC1a)
Male
Male
Hidden
SR355
Student Mode
AD Optic Neuropathy (IIIC1a)
Male
Male
History
This 11 year old male has a chief complaint of reduced visual acuity. This was first detected at age 7 when he failed a school screening.
| Color Vision: | Correctly identified 13 of 14 pseudoisochromatic plates OU. |
|---|---|
| Refraction OD: | -1.00 sphere |
| Refraction OS: | -1.00 +1.00 x 180 |
Pedigree
Teaching Points
The clinical features favoring the diagnosis of dominant optic atrophy in this patient include the temporal pallor of the optic disks, the otherwise normal fundus appearance, and the selective thinning of the nerve fiber layer on OCT.
| Age at visit: 10 years |
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| AD Optic Neuropathy | OPA1 | Arg748Stop CGA>TGA | AD |