BASICS

DESCRIPTION

• Elevated superotemporal optic disc with posteriorly displaced inferonasal disc resulting in an oval appearance of the optic nerve head

• Long axis of disc obliquely oriented

• Situs inversus of retinal vessels, scleral crescent located inferiorly or inferonasally

• Thinning of the inferonasal retinal pigment epithelium and choroid is typically present.

• Often associated with incomplete bitemporal hemianopia (preferentially involving the superior quadrants) that, unlike chiasmal lesions, does not respect the vertical midline

• Kinetic perimetry testing demonstrates fairly normal fields with large and small isopters.

• Severely constricted medium isopters occur due to marked ectasia of the midperipheral fundus (which often normalizes with appropriate refractive correction).

• Typically accompanied by myopic astigmatism refractive error (secondary to fundus ectasia;)

RISK FACTORS

Genetics

Has been reported in patients with X-linked recessive congenital stationary night blindness (NYX in CSNB1 and CACNA1F in CSNB2)

PATHOPHYSIOLOGY

Staphylomatous defect surrounding the optic disc

ETIOLOGY

Cause unknown, but may have pathogenic relationship to retinochoroidal coloboma

DIAGNOSIS

HISTORY

Congenital defect

PHYSICAL EXAM

• Full ocular examination including careful evaluation of the optic discs and evaluation for concomitant treatable amblyopia

• Careful evaluation of both eyes

DIAGNOSTIC TESTS & INTERPRETATION

Imaging

Initial approach

Neuro-imaging should be done in any patient with tilted disc syndrome whose visual field defect either respects the vertical midline or fails to preferentially involve the midperipheral kinetic perimetry isopter because suprasellar tumor must be ruled out

DIFFERENTIAL DIAGNOSIS

• Optic nerve dysplasia

• Optic nerve hypoplasia

• Optic nerve coloboma

TREATMENT

MEDICATION

No medical treatment for the primary disorder

ADDITIONAL TREATMENT

General Measures

Appropriate refractive error correction as soon as indicated

Issues for Referral

Low vision evaluation and support as indicated in cases with significant bilateral involvement

COMPLEMENTARY & ALTERNATIVE THERAPIES

None proven or indicated

SURGERY/OTHER PROCEDURES

Amblyopia therapy and strabismus surgery as indicated

ONGOING CARE

FOLLOW-UP RECOMMENDATIONS

• Regular follow-ups to monitor for changes in refractive error

• As needed for amblyopia and strabismus monitoring and treatment

• Low vision care if indicated

• Kinetic visual field evaluation as soon as patient is capable of giving reliable responses

Patient Monitoring

Patient concerns about appearance if significant strabismus is present

PATIENT EDUCATION

Low vision intervention in patients with significant bilateral involvement

PROGNOSIS

Broad range of best corrected visual acuity

ADDITIONAL READING

• Nucci P, Mets MB, Gabianelli EB. Trisomy 4q with morning glory disc anomaly. Ophthalmic Genetics, 1990;11:143–145.

• Brodsky MC, Baker RS, Hamed LM. Pediatric neuro-ophthalmology. New York: Springer, 1996;59–61.

• Pollack S. The Morning Glory disc anomaly; contractile movement, classification, and embryogenesis. Doc Ophthalmol 1987;65:439–460.

• Brown G, Tasman W. Congenital anomalies of the optic disc. New York: New York Grune & Stratton, 1983;171–178.

CODES

ICD9

• 368.47 Heteronymous bilateral field defects

• 743.57 Specified congenital anomalies of optic disc

CLINICAL PEARLS

• Work to maximize visual potential, especially in bilateral cases

• Protective eyewear if best corrected visual acuity is subnormal

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