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| ARTICLE |
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| Year : 1980 | Volume
: 28
| Issue : 2 | Page : 91-93 |
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"Leber's optic atrophy"
IM Shukla, BK Das, MK Ajwani
Department of Ophthalmology, Pt. J.N.M. Medical College, Raipur (M.P.), India
Correspondence Address:
I M Shukla
Deptt. of Ophthalomology Pt. J.N.M. Medical College Raipur (M.P.)
India
 Source of Support: None, Conflict of Interest: None  | Check |
PMID: 7216355 
How to cite this article:
Shukla I M, Das B K, Ajwani M K. "Leber's optic atrophy". Indian J Ophthalmol 1980;28:91-3 |
Leber's optic atrophy although relatively a rare condition is the commonest variety of hereditary optic atrophy. Leber[1] (1871) described this disease and found that females were affected much more rarely than males, in the proportion of 1:9. In most cases the disease appears to be sex-linked but sporadic cases and cases with anomalous variety are not uncommon. The family being reported here is one of the latter group.
| Material and methods | |  |
In the present study 4 members of a family of 8, who were examined, found to have Leber's disease. Three brothers out of four and one of the two sisters were found effected. parents were normal but grand-mother showed atrophy.
A 12 year boy (case No. 1) presented with diminished vision in both eyes. The patient noticed rapid loss of vision one month duration. Visual acuity was counting fingers in both eyes. Both eyes were externally normal. Papillary reactions were brisk.
Fundus examination showed hyperemia of disc with blurring of upper, lower and nasal margins. Visual field examination could not be carried out, as patient was not cooperative. The patient missed all the Ishihara colour plates.
The elder brother and sister (case No. 2 & 3, [Table - 1]) of case No. 1, also had similar complaints. The total duration of disease was ten months in case No. 2. and 4 years in case No. 3. Visual acuity had reduced to counting fingers in both the cases of epilepsy. The elder sister was initially completely disabled, but now she has improved somewhat, and can perform her routine works.
Fundus examination in both the cases showed disc atrophy with clear margins. Foveal reflexes were dull, and there was stippling of pigments in macular region.
Visual field examination in both the cases showed peripheral contraction. Both the patients missed all the Ishihara colour plates.
The grand mother (case No. 4) also showed disc atrophy with clear margins. Foveal reflexes were dull.
The youngest brother (case No. 5) in the family had no complaints. Fundus examination showed hyperemia of disc with slight nasal blurring. He did not co-operate for colour vision. He is still under observation.
| Discussion | | |
Onset of Leber's optic atrophy as described in literatures has been variable. Leber described it a disease with an acute onset[1], whereas the observations of Nikoskelainen et a1[2] indicated that the Leber's disease is disease with slow and insidious onset.
The disease manifests itself soon after puberty between the ages of 18 and 23. Combined data indicate an age of onset usually in the second or third decade, typically in late teens to mid 20's, with a range from 5 to 65 years.[3]
Leber considered that it is essentially found in families with a neuropathic taint. The occurrence of epilepsy[3] was noticed too. In the present series all cases were clinically normal except case No. 2, who is a known old case of epilepsy.
In cases No. 1, and 2 the visual disability has reached to a stationary stage. In case No. 3 after complete disability there is some improvement and she can perform routine works[3].
Visual fields are variable in cases of Leber's optic atrophy. 75 per cent show central scotoma and in some 35 per cent it is associated with peripheral contraction. However a peripheral contraction alone being sometimes evident[1] (Leber, 1871; Alexander, 1874; Knapp, 1904 etc.). The patients with Leber's disease have an acquired dyschromatopsia of the red-green axis. Glasser[3] described a dense central scotoma for colours in Leber's disease. Nikoskelainen et a1[2] reported 2 cases who missed all the Ishihara colour plates. Our patients also missed all the colour plates in Ishihara test chart.
In our observations case No. 2 and 3 showed an extremely poor foveal reflexes along with stippling of pigments around macula. Although this finding is not so common with this disease but Brodrick[4] reported 5 cases with extremely poor foveal reflexes and stippling of pigments around macula.
Leber's disease bas been defined as a sex linked recessive disease appearing specifically in brothers and maternal uncles. However it is apparent that the disease does not adhere to Mendelian's laws for simple sex-linked inheritance.[5] Sporadic cases do seem to appear, yet the condition can be demonstrated to be hereditary in the vast majority, although a generation may escape. The transmission of the trait through the mother in the vast majority of cases and the excess of affected males have generally been interpreted as indicative of recessive sex-linkage.[6] A similar generation gap was found in the present family. The grand mother had bilateral optic atrophy, but the parents were normal. Among the grand children, three brothers out of four and one of the two sisters were found to be affected [Figure 1]. This sporadic family therefore is indicative of a family affected with Leber's disease of recessive sex-linked variety.
Summary
A sporadic family of the rare Leber's optic atrophy of recessive sex linked variety with characteristic pathognomonic ophthalmic finding is being reported.
| References | | |
| 1. | Duke Elder, S., 1971 System of Ophth. Neurophthalmology, Vol. XII. F. 108, Henry Kimpton London.  |
| 2. | Nikos Kelaninen Eeva, Richard L., Soog Ralph and Rosenthal, A., 1977, Arch, Ophthalmol, 96, 969. |
| 3. | Glaser, J.S., 1976, Symposium on Neuro ophthalmology, C.V. Mosby, 59. |
| 4. | Brudrick, J.D., 1974, Brit. J. Ophthalmol. 58: 817. |
| 5. | Lawton-Smith, Niami J., and Hoyt. William F., 1973. Arch. of Ophthalmology, 90, 349. |
| 6. | Ballentyne, AJ, and Michaelson, I.C. 1962, Text book of the fundus of the 2nd Ed. p. 679. |
[Table - 1]
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