History/Chief Complaint

  • 49 year old male with history of a unilateral congenital optic nerve abnormality detected five days after birth. The patient is aware of an enlarged blind spot in the left eye which has not changed over the years. Vision is reported to be excellent in each eye although the patient is strongly right eye dominant. General health has always been excellent without any unusual systemic conditions.

Clinical Findings

  • BCVA: 20/15+2 OD and 20/15-1 OS
  • Fundus Exam:
    – OS: Revealed large excavated disc with blood vessels emerging in a radial pattern . Apparent fibroglial tissue in the center of the disc and visible sclera inferior and inferior nasal to disc as well as some pigment clumping.
    – OD: WNL.
  • Visual Fields (Humprey Zeiss 30-2 and 60-4.):
    – OS: Superior temporal scotoma that includes the normal blind spot in the 30-2 and extends beyond 30 degrees as depicted in the 60-4.
    – OD: WNL

B-scan

  • OS: Disc excavation with a membranous elevation below the disc about 7 mm x 5mm and 2 mm in depth.
  • OD: WNL.

Spectral Domain OCT

  • OS: Marked disc excavation centrally transitioning to membranous elevation below the disc. The elevation below the disc is a split within the retina or retinoschisis and is about 5mm x 5 mm and 2mm in depth. Subtle retinoschisis is also observed temporal to the optic nerve but the split does not extend into the macula.
  • OD: WNL
  • The photoreceptor integrity line. PIL (see page 21) is present under the fovea of both eyes but better defined in the OD.

Diagnosis

  • OS: Congenital disc anomaly in the left eye with clinical characteristics of both optic nerve coloboma and Morning Glory Syndrome (MGS). The radial disc vessels are typical of MGS but the 20/15 VA is not.
  • OD: WNL.