We are sorry, but NCBI web applications do not support your browser and may not function properly. More information

Results: 4

1.
FIGURE 1

FIGURE 1. From: SUBCLINICAL CARRIERS AND CONVERSIONS IN LEBER HEREDITARY OPTIC NEUROPATHY: A PROSPECTIVE PSYCHOPHYSICAL STUDY.

Seven-generation pedigree of 11778/ND4 J-haplogroup Leber hereditary optic neuropathy (LHON). This Brazilian family descends from a female Italian founder, born in Verona in 1861. The two newly affected cases are identified in their nuclear families by arrows.

Alfredo A. Sadun, et al. Trans Am Ophthalmol Soc. 2006 December;104:51-61.
2.
FIGURE 3

FIGURE 3. From: SUBCLINICAL CARRIERS AND CONVERSIONS IN LEBER HEREDITARY OPTIC NEUROPATHY: A PROSPECTIVE PSYCHOPHYSICAL STUDY.

Leber hereditary optic neuropathy (LHON). An example of GDx changes in the right eye of case 2. Advanced Serial Analysis allows comparison of GDx VCC scans over time. Both decreases in thickness and increases in thickness are documented. The TSNIT curves (upper left of printout) are color coded for each examination. The Trend Analysis with Probability (upper right) is depicted by lines connecting the results listed in the Parameter Table. Bright colors depict increases in birefringence at the noted location and dark colors depict decreases in birefringence. Increases in birefringence occur in the acute stage of LHON, perhaps on account of an increase in the number of microtubules of mitochondria.

Alfredo A. Sadun, et al. Trans Am Ophthalmol Soc. 2006 December;104:51-61.
3.
FIGURE 4

FIGURE 4. From: SUBCLINICAL CARRIERS AND CONVERSIONS IN LEBER HEREDITARY OPTIC NEUROPATHY: A PROSPECTIVE PSYCHOPHYSICAL STUDY.

Example of a highly abnormal unaffected male Leber hereditary optic neuropathy (LHON) carrier mfERG in comparison with a carrier whose responses are indistinguishable from those of normal subjects. The optic nerve head component (ONHC) is recognized by its varying implicit time that increases in proportion to the fiber length connecting the stimulus patch with the optic disc. It is generated near the lamina cribrosa, at the transition where the fibers become myelinated. The traces on concentric circles around the fovea are plotted in columns, always starting from the trace closest to the nerve head, proceeding through the upper visual field, and returning through the lower field. The blue lines connect a feature contributed by the ONHC. In the red traces and corresponding red stimulus areas, the ONHC is considered below normal or missing.

Alfredo A. Sadun, et al. Trans Am Ophthalmol Soc. 2006 December;104:51-61.
4.
FIGURE 2

FIGURE 2. From: SUBCLINICAL CARRIERS AND CONVERSIONS IN LEBER HEREDITARY OPTIC NEUROPATHY: A PROSPECTIVE PSYCHOPHYSICAL STUDY.

Leber hereditary optic neuropathy. Left, Case 1. Fundus photograph taken during year 2 (2002) as part of the routine examinations of carriers. At the time, the patient had no visual complaints and visual acuities of 20/20 OU but had borderline deficiencies on FM-100 color vision testing OS. Fundus examination showed mild nerve fiber layer swelling and subtle microangiopathy both superior and inferior temporally. The patient first complained of visual loss in this eye 5 months later in 2003. Right, Case 2. Fundus photograph OS taken at year 3 (2003), about 8 months after onset of visual loss in this eye. This shows some generalized nerve fiber layer loss but relative preservation of the inferior arcuate bundle by comparison to profound papillomacular bundle loss. At this date, the patient’s visual acuity was reduced to counting fingers in this eye.

Alfredo A. Sadun, et al. Trans Am Ophthalmol Soc. 2006 December;104:51-61.

Supplemental Content

Recent activity

Your browsing activity is temporarily unavailable.

Write to the Help Desk