History/Chief Complaint
- A 49 year old male attorney was referred by his uncle, an optometrist, because of two vague episodes of minor transient vision blur months earlier. There was no family history of vision problems nor neurological disease. A long standing and non-progressive color vision problem was revealed. All color plates were reported to be missed by his uncle.
Clinical Findings
- BCVA: 20/20 OD and 20/25 OS
- 10Ps ranged from 11-15 mm on 4 different exams
- Fundus exam: essentially WNL with (physiological?) temporal pallor.
- Visual Fields: minor reduction in mean deviation OU with no diagnostic pattern.
- Color Vision: Multiple errors (9/14) on Pseudo-lsochromatic Plates OD and 05.
- Visual Evoked Potentials (VEPs): Reduced in amplitude but not delayed- thus ruling out MS.
- mfERGs: very subtle reductions in amplitude OD and OS.
- Optovue SD OCT OU:
— Reveals the presence of a normal photoreceptor integrity line, PIL (see page 19).
— Reduction of the RNFL temporal to the disc.
— Thin inner retina ( includes RNFL, ganglion cells and innner plexiform layer (IPL) )
— Thin outer retina (measured from IPL to the PIL)
MRI referral
- MRIs reveal diffuse cortical volume loss in the cerebellar, pons, brainstem and medulla all suggestive of Olivopontocerebellar Atrophy (OPCA) aka Spinal Cerebellar Ataxia (SCA)
Diagnosis
- Diffuse loss of both the inner and outer retina in the presence of diffuse loss of brain tissue
Treatment
- No presently recognized intervention approved for this progressive neurodegeneration