J Korean Ophthalmol Soc.  2007 Sep;48(9):1257-1262.

Clinical Characteristics of Leber's Congenital Amaurosis in Korea

• Hwang JS
• Kim JH
• Choung HK
• Heo JW
• Kim SJ
• Yu YS

Abstract

PURPOSE: To study the clinical characteristics and visual prognosis of Leber's congenital amaurosis in Korea.
METHODS
Children who were diagnosed with Leber's congenital amaurosis at Seoul Natioanl University Children's Hospital between 1992 and 2004, were included in this study. The medical records pertaining to the clinical characteristics and visual outcomes of the patients were retrospectively reviewed.
RESULTS
The mean age of the patients at presentation and during the subsequent follow-up period was 15.5 and 62.7 months, respectively. The principal symptoms included lack of fixation (69.0%) and nystagmus (23.8%). At first observation, nystagmus was found in 40 patients, and the appearance of the fundi were variable, including 'normal' (23.8%), pigmentary degeneration (54.8%), vascular attenuation (35.7%) and macular coloboma (19.0%). At the age of three to five years, 44.4% of patients had hyperopia greater than +5D. At the time of last follow-up, the visual acuities of the patients who were examined after the age of four were 'hand motion' in 68.7%, > or =20/400 in 9.4%. No patient had visual acuity better than 20/200. Eight (25%) patients could read with glasses or low-vision aids.
CONCLUSIONS
The visual prognosis of patients with Leber's congenital amaurosis was poor in most cases, but a majority of our patients displayed a stable clinical course. Progression was rare, and one fourth of the patients were able to read with appropriate aides. In conclusion, regular follow-up care to assess visual function is necessary for optimal outcomes.

Keyword

Leber's congenital amaurosis; Nystagmus; Congenital retinal dystrophy; Visual prognosis; Congenital blindness

MeSH Terms

Blindness*
Child
Coloboma
Eyeglasses
Follow-Up Studies
Glass
Humans
Hyperopia
Korea*
Medical Records
Prognosis
Retrospective Studies
Seoul
Visual Acuity

Figure

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  Figure 1. Fundus photographs of patients with Leber's congenital amaurosis. (Left) Left eye of a\ 40-month-old girl is notable for pigmentary retinal degenration, retinal vessel attenuation, and macular coloboma. (Right) The right eye of a 6-year-old girl is notable for mild arterial attenuation. When she was 5 months old, fundus finding was normal without vessel attenuation.

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  Figure 2. Typical electroretinogram and visual evoked potential of a patient with Leber's congenital amaurosis. 5 year-old boy. (Left) Electroretinogram. (Right) Visual evoked potential. When he was 9 months old, the findings of both electroretinogram and visual evoked potential were same as above.

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  Figure 3. Visual acuities of patients with Leber's congenital amaurosis at the time of the last follow-up visit. (N=32)

Reference

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