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Show PHOTO ESSAY Superior Segmental Optic Nerve Hypoplasia Valerie A. Purvin, MD FIG. 1. A: Fundus photographs of the OD ( left) and the OS ( right). The upper margin of the true optic disc can be seen distinct from the edge of the scleral canal, thus forming half of the double- ring sign characteristic of optic nerve hypoplasia. B: Red- free fundus photographs of the same patient highlight the complete absence of nerve fiber layer in the hypoplastic segment of each disc. A visually asymptomatic 27- year- old man was found to have inferior altitudinal visual field defects binocularly. Ophthalmoscopy revealed superior segmental optic pallor with superior nerve fiber layer atrophy, nicely highlighted in red- free photographs. The patient's mother had insulin-dependent diabetes mellitus. Recognition of this entity is important for prognosis and for avoidance of unnecessary diagnostic studies. ( JNeuro- Ophthalmol 2002; 22: 116- 117) Midwest Eye Institute and Indiana University Medical Center, Departments of Ophthalmology and Neurology, Indianapolis, Indiana, USA. Address correspondence to Valerie A. Purvin, MD, Midwest Eye Institute, 201 Pennsylvania Parkway, Indianapolis, IN 46280, USA. A 27- year- old man sought further neurologic evaluation for longstanding muscle weakness previously diagnosed as limb girdle muscular dystrophy. His mother and two siblings had the same condition. His mother also had insulin- dependent diabetes mellitus. The patient had no visual symptoms. Neurologic examination demonstrated moderate proximal weakness and muscle atrophy. In addition, confrontation visual field testing suggested inferior visual field loss binocularly and prompted neuro- ophthalmic consultation. Neuro- ophthalmic examination demonstrated uncorrected visual acuities of 20/ 20 in OU with normal color vision and pupillary responses. Ophthalmoscopy disclosed superior hypoplasia of the optic discs with a partial n l l O , POL10.1097/ 01. WNO. 00Q0018241.8.4472. E8 . J^ euro Copyright © Lippincott Williams & Wilkins. Unauthorized reproduction o • hthalmol, Vol. 22, No. 2, 2002 ns article is prohibited. PHOTO ESSAY JNeuro- Ophthalmol, Vol. 22, No. 2, 2002 FIG. 2. Goldmann perimetry shows complete absence of the inferior hemifield OU. double- ring sign ( Fig. \ A and B). Goldmann perimetry ( Fig. 2) disclosed bilateral inferior altitudinal defects. Partial optic nerve hypoplasia in the offspring of insulin- dependent diabetic mothers was first described by Peterson and Walton in 1977 ( 1). The fundus and visual field findings in this syndrome were more fully characterized by Nelson et al. ( 2), and the term superior segmental optic hypoplasia was subsequently introduced by Kim et al. ( 3). While initially considered to be a rare anomaly, a study of 34 offspring of diabetic mothers by Landau et al. ( 4) found a prevalence of 8.8%. The condition is usually bilateral, affects females more often than males, and is unasso-ciated with other developmental anomalies. Individuals with this condition are typically asymptomatic, with the field defect discovered during routine testing, as in our patient. This form of optic disc anomaly is occasionally seen in patients who do not have a history of maternal diabetes ( 5). Awareness of this distinctive fundus appearance can spare the patient the time and expense of unnecessary ancillary testing. REFERENCES 1. Peterson RA, Walton DS. Optic nerve hypoplasia with good visual acuity and visual field defects: a study of children of diabetic mothers. Arch Ophthalmol 1997; 95: 254- 8. 2. Nelson M, Lessell S, Sadun AA. Optic nerve hypoplasia and maternal diabetes mellitus. Arch Neurol 1986; 43: 20- 5. 3. Kim RY, Hoyt WF, Lessell S, et al. Superior segmental optic hypoplasia: a sign of maternal diabetes. Arch Ophthalmol 1989; 107: 1312- 5. 4. Landau K, Bajka JD, Kirchschlager BM. Topless optic disks in children of mothers with type I diabetes mellitus. Am J Ophthalmol 1998; 125: 605- 11. 5. Hashimoto M, Ohtsuka K, Nakagawa T, et al. Topless optic disk syndrome without maternal diabetes mellitus. Am J Ophthalmol 1999; 128: 111- 2. in Copyright © Lippincott Williams & Wilkins. Unauthorized reproduction of this article is prohibited |
