UNEXPLAINED VISUAL LOSS

Neuro-ophthalmology Service

Wills Eye Hospital

Philadelphia, Pensylvania

USA

Survey of Ophthalmology 48(6) 626-630

20y, male, reduced VA

8y: myopia/ ‘eyes not perfect’

17y: low VA

Retina specialist+ neuroophth.

VF, FFA, Fundoscopy, MRI: normal

No medication/ No toxic exposure

Negative family eye history

Well balanced diet

No tobacco/ occasional alcohol

HISTORY:

VA: 6/12 R, 6/18L (-2.5 -0.5 90°)

Pupils: brisk reactions/ No RAPD

Ishihara: 6/10R, 7/10L

Orthophoria D/N

Full ductions/ versions

Normal ant. segment

IOP:14 R+L

Fundus: tilted discs+ mild temporal pallor+ thinned papillomacular bundle

VF: subtle cecocentral scotoma R+L

CLINICAL EXAMINATION:

DD:

• COMPRESSION/ INFILTRATION

• DEMYELINATION

• DOA

• TOXIC NEUROPATHY

• MACULAR DISEASE (CONE DYSTROPHY)

DIRECT QUESTIONING FOR:

• Endocrine dysfunction

• MS

• NF1

DIAGNOSTIC WORKUP:

• MRI (fat supression, FLAIR, contrast)

• F-M 100: tritan axis

• LP

• ERG

DIAGNOSIS:

DOA

PROGNOSIS:

VA gradual with age but most >3/60

No recovery

No Rx

Good longterm

DISCUSSION I:

CRITERIA:

• AD

• INSIDIOUS ONSET <10y

• Bilateral mild to moderate/ asymmetric

• Central, para- or centrocecal scotoma (subtle),pseudobitemp. hemianopia

• Aquired tritan dyschromatopsia (94%)

• Temporal disc pallor/ excavation (triangular)

DISCUSSION CONT.:

Commonest heretodegenerative opt. neuropathy: 1:10,000

Inter/intra-familial variation in VA

Mental retardation

Nystagmus

Hearing loss

Ganglion cell degeneration/ ascending atrophy

OPA1 gene: GTP-ase (mitoch. Biogenesis/membrane integrity)