Management of Leber’s Hereditary Optic Neuropathy through Ayurveda - A Case Report
CASE STUDY
Dr. Hemanta Gautam
P.G. Scholar, Department of Shalakyatantra, National Institute of Ayurveda (DU), Jaipur. https://orcid.org/0009-0002-1882-4406
Prof. Shamsa Fiaz
Professor & Head, Department of Shalakyatantra, National Institute of Ayurveda (DU), Jaipur. https://orcid.org/0000-0001-5039-339X
Management of Leber’s Hereditary Optic Neuropathy through Ayurveda – A Case Report
International Journal of Ayurveda360 | Volume 1 | Issue 5|
Journal Details:
- ISSN (ONLINE) : 3048-7390
- ISSN (PRINT) : 3048-7382
- Bimonthly Journal
How to cite this article:
Gautam, H. & Fiaz, S. (2025). Management of Leber’s Hereditary Optic Neuropathy through Ayurveda – A Case Report. International Journal of Ayurveda360, 1(5), 298–313. https://doi.org/10.63247/3048-7390.vol.1.issue5.5
Publication History:
Submitted:28-February-2025 Revised: 26-March-2025
Accepted: 11-April-2025 Published: 15-April-2025
DOI: 3048-7390.vol.1.issue5.5
DOI Link: https://doi.org/10.63247/3048-7390.vol.1.issue5.5
Address for Correspondence: Dr. Hemanta Gautam, PG Department of Shalakyatantra, National Institute of Ayurveda (DU), Jaipur. Email Id: hemanta.gautam.125@gmail.com
Licensing & Distribution
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ABSTRACT
Introduction:
Leber’s Hereditary Optic Neuropathy (LHON) is a rare genetic disorder, primarily affecting young men, leading to rapid vision loss. Conventional treatments for LHON have shown limited effectiveness. This case study explores the potential of Ayurvedic treatment in managing LHON, focusing on a 19-year-old male with the MT-ND4 mutation.
Methods:
A comprehensive Ayurvedic regimen was administered to the patient, which included herbal formulations and therapeutic interventions were given for a period of 4 months aimed at nourishing and protecting the optic nerve. The treatment was closely monitored, and the patient’s progress was evaluated through regular visual assessments.
Results:
Despite the failure of conventional treatments to halt vision decline, the patient showed modest improvement after undergoing the Ayurvedic treatment. Initially, the patient could only perceive hand movements, but after treatment, he progressed to counting fingers at 25 centimetres i.e.0.3 logMAR gain. Vision loss stabilized, demonstrating a partial recovery of function. No adverse drug reactions were reported.
Discussion:
The patient’s improvement suggests that Ayurvedic treatments, although not leading to complete recovery, may offer supportive care in managing LHON, especially in cases where conventional medicine is limited. The results emphasize the need for further research to explore the mechanisms behind Ayurvedic interventions for LHON.
Conclusion:
Ayurvedic treatment may provide beneficial effects in stabilizing vision and offering partial recovery in LHON patients. Further studies are needed to validate these findings and understand the mechanisms of Ayurvedic therapies in treating optic neuropathies.
Keywords: LHON, Optic atrophy, genetic eye disorder, ayurveda, Matravasti.
FULL PAPER
Introduction:
Leber’s Hereditary Optic Neuropathy (LHON) stands as a poignant example of a rare mitochondrial disorder that predominantly affects the optic nerve, leading to severe, often irreversible vision loss. First described by the German ophthalmologist Theodor Leber in 1871, LHON has since been recognized for its characteristic features of acute or subacute painless central vision impairment, usually beginning in young adulthood and disproportionately affecting males.[1]
LHON is a inherited disorder from mother, with over 95% of cases linked to three primary mitochondrial DNA (mtDNA) mutations: m.11778G>A, m.3460G>A, and m.14484T>C. These mutations affect complex I of the mitochondrial respiratory chain, disturbing the production of adenosine triphosphate (ATP) and decreasing the energy demands of the optic nerve, particularly susceptible due to its high metabolic activity. The exact prevalence of LHON varies among different populations, with estimates ranging from 1 in 30,000 to 1 in 50,000 individuals.[2]
The hallmark of LHON is the rapid loss of central vision in one eye, typically followed by weeks to months involvement to affect the fellow eye. Affected individuals often experience acute blurring and clouding of vision, with central scotomas that impair visual acuity. Fundoscopic examination during the acute phase reveals optic disc oedema, hyperaemia, and telangiectatic vessels, progressing to optic atrophy as the disease evolves. Colour vision, especially for red-green hues, is severely affected early in the disease course.[3]
The diagnosis of LHON is primarily clinical, guided by the characteristic history of painless, subacute bilateral central vision loss in young adults, often with a maternal family history of similar visual impairment. Confirmatory testing involves molecular genetic analysis of mitochondrial DNA mutations, which can identify the specific pathogenic variant responsible for the disease in affected individuals and their asymptomatic maternal relatives.[4]
The pathophysiology of LHON centers on mitochondrial dysfunction leading to oxidative stress, impaired ATP production, and subsequent apoptotic cell death within retinal ganglion cells (RGCs) of the optic nerve. Complex I mutations disrupt electron transport and ATP synthesis, particularly affecting the energy-intensive demands of RGC axons, which extend from the retina to the optic nerve head.[5]
Management and Prognosis
Currently, treatment options for Leber’s Hereditary Optic Neuropathy (LHON) are limited, with no definitive cure available to reverse optic nerve damage or fully restore vision loss. Among conventional approaches, idebenone—a synthetic derivative of coenzyme Q10—has garnered the most empirical support. It enhances mitochondrial function by reducing oxidative stress and has shown modest visual improvement in few patients, particularly when administered during the early stages of the disease. Other investigational therapies include gene therapy, stimulants of mitochondrial biogenesis, and antioxidants such as EPI-743 and ubiquinone. Despite these advancements, their overall efficacy remains inconsistent and often provides only temporary benefits. Supportive measures such as genetic counseling are also recommended to assess familial transmission risks. This therapeutic shortfall is especially evident in advanced or rapidly progressing cases of LHON, thereby presenting a significant treatment gap. In such scenarios, Ayurvedic medicine may offer a promising supportive or adjunctive approach by focusing on neuro-nourishment, cellular metabolism enhancement, and tissue regeneration through holistic and individualized interventions. [6,7]
However there is no definitive cure available till date to delay or halt the further progression. Ayurvedic management can delay the progression of vision loss or may also stop the deterioration of optic nerve through different classical preparation administered topically in the form of Netra Kriyakalpas as well as given orally. Chakshushya drugs are particularly adopted as they are rich in antioxidants with micronutrients which provide nutrition to the retinal ganglion cells and thereby prevent apoptosis.
Based on its hereditary origin it can be correlated to sahaja netra roga which occurs when there is defect in the genetic pattern. At the dhatu level there is agnimandhya as the defect lies in the mitochondria. Hence pitta dosha is involved initially where in there is deficient production of ATP which in turn affects the energy demand of optic nerve and thereby causing gradual deterioration and apoptosis of ganglion cells. There is depletion of dhatus at the level of ganglion cells layer causing kapha shosha followed by vata vitiation due to deficit poshana of dhatus and thereby causes shoshana or atrophy of the fibers of netra nadi i.e. optic nerve. Hence there is gradual loss of vision due to the loss of retinal nerve fibres causing optic atrophy or Netra Nadi Shosha.
Patient’s Information:
Element | Details |
Age | 19 years |
Sex | Male |
Occupation | Student |
Main Symptoms | Difficulty in vision in both eyes since October 2022 |
Onset and Duration | Gradual onset; progressive over 1.5 years |
Medical History | RTA in 2016 (facial and abdominal trauma); no prior systemic illness |
Family History | No known family history of LHON or visual disorders |
Psychosocial History | No addiction; stable social and academic functioning |
Lifestyle | Normal diet and sleep; no tobacco/alcohol/narcotic use |
Medications | None before presentation; Ayurvedic regimen started after diagnosis |
Allergies | No known drug or food allergies. |
Patient Consent: Written informed consent was obtained from the patient for the publication of this case report and any accompanying images. The patient was informed that personal details would be kept confidential, and efforts would be made to ensure anonymity, although complete anonymity cannot be guaranteed.
Clinical Findings:
Table no.1: General examination
S.N. | Examination of | Findings |
General appearance | Anxious | |
General personality | Extrovert | |
General Body Built | Moderately build | |
General physical and mental condition | Physically good and mentally seems restless. | |
Pallor | Absent | |
Icterus | Absent | |
Lymph nodes | Normal | |
Cyanosis | Absent | |
Oedema | Absent | |
B.P. | 120/78 mm of Hg | |
Pulse rate | 80 bpm | |
Respiratory Rate | 20/min. | |
Temperature | 98 °F | |
Height | 165 cm | |
Weight | 56 kg | |
Joints | Normal | |
Nails | Normal | |
Hairs | Normal | |
Involuntary Movements | Absent | |
Pain | Absent | |
Pupil | Norma size with RAPD in left eye. |
Table no.2: Systemic examination
System | Inspection | palpation | Percussion | Auscultation |
Chest and respiratory | Symmetrical, normal colour, no abnormal movements. | No tenderness/masses / ribcage abnormality | Normal resonance | Normal vesicular breath sound with bilateral equal air entry |
Cardiovascular | Normal shape, size, colour | No tenderness, no rise in temperature. | Normal cardiac dull sound heard. | S1S2M0(Normal lubb dub sound and no murmur sound) |
Per abdominal | Surgical scar present, other normal shape, size and colour. | No tenderness, rise in temperature and organomegaly felt. | Normal sound on percussion. | Normal abdominal sound heard. |
Nervous system | All the cranial nerve were intact functionally except 2nd cranial nerve. | |||
Table no.3: Torch light eye examination
Right eye | Structure | Left eye |
Normal | Lashes | Normal |
Normal | Lids | Normal |
Both bulbar and palpebral conjunctiva are normal | Conjunctiva | Both bulbar and palpebral conjunctiva are normal |
Clear | Cornea | Clear |
Normal shape and size. | Pupil | Normal shape and size, with RAPD |
Clear | lens | Clear |
Table no.4: Funduscopic examination
Right fundus | structure | Left fundus |
Normal | Glow | Normal |
Normal | Size | Normal |
Normal | Shape | Normal |
Yellow | Colour | Yellow |
Irregular, degenerative changes | Margin | Irregular, degenerative changes |
Pale | Optic disc | Pale |
0.4 | C/D ratio | 0.4 |
Macular swelling | macula | Macular swelling |
Dull | FR | Dull |
Table no.5: Visual acuity
Distant visual acuity | With pin hole | |
Right eye | Hand movement positive | Hand movement positive |
Left eye | Hand movement positive | Hand movement positive |
Table no.6: Intra ocular pressure (Noncontact Tonometry-NCT)
Right eye | 21 mmHg |
Left eye | 23 mmHg |
Timeline:
Date | Event / Intervention | Observation / Outcome |
Oct 2022 | Onset of vision difficulty in both eyes | Blurred vision; could not read from board or notebook |
Mar 30, 2024 | Presented to Ayurveda OPD, National Institute of Ayurveda | Vision at Hand Movement (HM) Positive in both eyes |
Mar 30, 2024 | Admission and start of Ayurvedic treatment (Oral meds + Matravasti + Nasya) | Baseline recorded – HM Positive |
Jun 4, 2024 | Second therapy phase (added Padabhyanga, Shiropichu, Saptamrit Lauha) | Subjective eye muscle relaxation reported |
Jun 25, 2024 | New therapies started: Netra Parishek, Nasya (Kshirabala), Shiropichu | Continued HM Positive, no deterioration |
Jul 3, 2024 | Tarpana with Ashwagandha Ghrita introduced | Reduced eye strain; continued improvement |
Jul 11, 2024 | Snehan Putapaka (nano-formulation therapy) initiated | Visual gain: Counting Finger (CF) at 10 cm |
Jul 17, 2024 | Discharged; advised to continue oral meds and follow up | Vision improved to CF at 25 cm in both eyes |
Diagnostic Assessment:
Diagnosis was made with careful and detailed history, general physical examinations, systemic examination, ocular examination, Blood investigations, Optical Coherence Tomography, Genetic Study.
Therapeutic Intervention:
The patient was managed with a classical Ayurvedic treatment protocol aimed at nourishing the optic nerve (Netra Nadi), reducing oxidative stress, and restoring dhatvagni (tissue metabolism), based on the principles of Brihmana, Snehana, and Chakshushya chikitsa.
Oral Medications:
Formulation | Composition/Type | Dose | Frequency / Route | Purpose |
Brihatyadi Kashaya | Herbal decoction | 20 ml | Once daily, oral, before food | Anti-inflammatory, Chakshushya |
Mahamanjisthadi Kashaya | Herbal decoction | 20 ml | Once daily, oral, after food | Raktashodhaka, antioxidant |
Rasayana Ghana Vati | Rasayana tablet | 2 tablets | Twice daily, oral, after food | Rejuvenation, improves dhatu formation |
Saptamrit Lauha | Herbo-mineral formulation | 500 mg | Twice daily, oral | Chakshushya, antioxidant, improves visual acuity |
Ashwagandharishta | Fermented herbal preparation | 20 ml with equal warm water | Twice daily, after food | Adaptogen, neuro-tonic |
Brahma Rasayana | Polyherbal paste | 5 g with milk | Twice daily | Medhya, Chakshushya |
Yashad Bhasma | Zinc-based Ayurvedic mineral | 125 mg | Twice daily | Antioxidant, supports nerve health |
Minovit Capsule | Modern multivitamin | 1 capsule | Twice daily | Nutritional support |
Kriyakalpas/Panchakarma/Local therapies:
Procedure | Material Used | Frequency / Duration | Purpose |
Matravasti | Bala-Ashwagandhadi Taila, 50 ml per rectum | Once daily × 21 days | Brihmana, Vatahara, nourishes optic pathway |
Pratimarsha Nasya | Anu Taila, 2 drops per nostril | 5× per day (self-administered) | Clears Urdhva Jatru, enhances olfactory–optic link |
Shiropichu | Kshirabala Taila | Once daily | Calms nervous system, improves cranial circulation |
Padabhyanga | Kshirabala Taila | Once daily at bedtime | Induces relaxation, Vatahara |
Netra Parisheka | Dashmula, Vidari, Ashwagandha, Triphala decoction | Once daily for 7 days | Cleanses ocular surface, reduces inflammation |
Nasya (Shodhana) | Kshirabala 101 Taila, 6 drops per nostril | Once daily for 7 days | Deep nervous action, improves sensory transmission |
Tarpana | Ashwagandha Ghrita | Once daily for 7 days | Ocular rejuvenation, nourishes retinal structures/corneal drug penetration |
Snehan Putapaka | Herbal & mineral mix (Bhasma, churna, meat extract) | Once daily for 7 days | Nano-form delivery for mitochondrial correction |
Follow ups and outcome:
The following treatment was given to the patient in different sittings.
Date | Medicine prescribed | Therapy prescribed | Key Findings |
30/03/2024 | 1. Brihatyadi kashaya 20ml OD(morning)* AC*PO. 2. Mahamanjisthadi kashaya 20ml OD(evening)*PC*PO. 3. Capsule Minovit 500mg. BD*PC*PO
| 1.Matravasti with balaashwagandhadi oil 50ml*21 days(per anal) 2.Pratimarsha nasya with Anu oil 2 drops in each nostrils, 5×/day | HM positive in both eyes. |
04/06/2024 | 1. Brihatyadi kashaya 20ml OD(morning)* AC*PO. 2. Mahamanjisthadi kashaya 20ml OD(evening)*PC*PO. 3. Capsule Minovit 1 cap. BD*PC*PO 4. Rasayanghana vati 500mg tab BD*PC*PO 5. Saptamrit lauha 500mg BD×PO×PC | 1. Padabhyanga with Kshirabala oil (sole massage) ×HS 2. Shiropichu with Kshirabala oil (oiling of head with soaked cotton) ×OD 3. Pratimarsha nasya with Anu oil 2 drops in each nostrils, 5×/day | Hand movement positive in both eyes, patients felt slight relaxation of eye muscles. |
25/06/2024 |
|
| Hand movement positive in both eyes with relaxation of eye muscles. |
03/07/2024 |
|
(Pooling of luke warm medicated ghee over the eyes)
| Hand movement positive in bilateral eyes with reduced in strain in eyes. |
11/07/2024 |
|
OD×AC×7days (Pooling of eyes with special preparation as per putpaka preparation method which includes lauha bhasma, shankha bhasma, ashwagandha churna, shatavari churna, vidari churna, yashtimadhu churna, triphala churna, guduchi patra svarasa, boneless meat as raw material) | Counting finger 10cm in bilateral eyes. |
17/07/2024 | Patient was discharged and adviced to visit after 15 days or SOS with continuing oral medicine. |
| C.F. 25cm B/L |
Result and Discussion:
Although Ayurvedic intervention did not show promising results in improvement of vision but definitely was able to prevent the further rapid progression of vision loss, since his vision was rapidly deteriorating. During the interval of October 2022 to march 2024 vision was markedly decreased from distant vision 6/6 in bilateral eyes to hand movement positive in both eyes. Since the administration of Ayurvedic medicine and therapies from March 2024 there was halt in deterioration of vision with slight improvement from Hand movement to counting finger 25cm which can significantly change his quality of life by running his personal day to day activities.
Leber’s Hereditary Optic Neuropathy (LHON) is a maternally inherited mitochondrial disorder that leads to degeneration of retinal ganglion cells (RGCs), culminating in rapid, often irreversible vision loss. The disease is associated with specific mitochondrial DNA mutations, with MT-ND4 (as seen in this case) being the most common and most severe variant. Conventional treatments like idebenone—a coenzyme Q10 analog—have shown only partial efficacy, particularly when administered during the early phase of disease onset. However, even these approaches do not consistently halt disease progression or restore vision, especially in advanced cases [8].
In this context, the present case demonstrates a potentially significant outcome with Ayurvedic intervention, where the progression of visual loss was arrested, and a modest improvement from hand movement perception to counting fingers at 25 cm was achieved over a four-month treatment period. This change, while not amounting to full recovery, suggests that Ayurvedic therapies may offer a supportive or stabilizing effect in degenerative mitochondrial optic neuropathies like LHON.
From an Ayurvedic perspective, this condition can be correlated with Sahaja Netra Nadi Shosha, where Netra Nadi (optic nerve) undergoes degenerative changes due to Dhatvagnimandhya (impaired tissue metabolism), primarily involving Pitta and Vata doshas. The Ayurvedic protocol used—comprising Brihmana, Rasayana, and Chakshushya therapies—was aimed at nourishing the RGCs, correcting metabolic dysfunction at the cellular level, and arresting neural atrophy.
Possible Mechanisms of Action
- Antioxidant and Neuroprotective Effects:
Herbal formulations like Saptamrit Lauha, Ashwagandha, Guduchi, and Brahma Rasayana are rich in antioxidants and have been shown to protect neural tissues by scavenging reactive oxygen species (ROS), which are elevated in mitochondrial dysfunction [9]. - Mitochondrial Support and Energy Restoration:
Yashada Bhasma and Snehan Putapaka formulations potentially deliver nutrients in nano-form, aiding in the correction of mitochondrial respiration deficits (dhatvagnimandhya) and improving ATP production at the cellular level. - Neuro-Nourishment via Rasayana Therapy:
Rasayanas such as Ashwagandharishta and Rasayana Ghana Vati are known to enhance neuroplasticity, promote myelination, and support regeneration of damaged neural tissue, which may have contributed to halting further degeneration. - Trans-nasal and Ocular Delivery (Nasya & Tarpana):
Nasya and Tarpana procedures facilitate drug delivery close to the optic pathway, potentially improving the local circulation, enhancing drug absorption through olfactory and ocular routes, and stimulating the hypothalamic-pituitary axis. - Yashad Bhasma nanoparticles (20-50nm) demonstrate alternative electron transport capability to bypass Complex I defects, while Brahma Rasayana shows superior ROS reduction (62%) compared to idebenone (38%) in neuronal cultures, suggesting synergistic potential for LHON management. [9,10]
Although limited by being a single case, this observation supports the possibility that Ayurvedic medicine may offer a complementary or adjunct approach in the management of LHON, particularly for patients with few effective conventional options.[11] However, these results needs further investigation through well-designed clinical studies to confirm efficacy and elucidate the underlying pharmacodynamics.
Patients Perspective: Video evidence has been recorded.
Informed Consent: Patient was informed and well explained about the procedure and study.
References:
[1] Khosla PK, editor. Comprehensive ophthalmology. 9th ed. New Delhi: Jaypee Brothers Medical Publishers; 2021. 520 p.
[2] Yu-Wai-Man P, Griffiths PG, Chinnery PF. Mitochondrial optic neuropathies – disease mechanisms and therapeutic strategies. Progress in Retinal and Eye Research. 2011 Mar;30(2):81-114. doi:10.1016/j.preteyeres.2010.11.002.
[3] Carelli V, La Morgia C, Valentino ML, Barboni P, Ross-Cisneros FN, Sadun AA. Retinal ganglion cell neurodegeneration in mitochondrial inherited disorders. Biochimica et Biophysica Acta. 2009 May;1787(5):518-28. doi:10.1016/j.bbabio.2009.02.024.
[4] Khosla PK, editor. Comprehensive ophthalmology. 9th ed. New Delhi: Jaypee Brothers Medical Publishers; 2021. 520 p.
[5] Giordano C, Montopoli M, Perli E, Orlandi M, Fantin M, Ross-Cisneros FN, et al. Oestrogens ameliorate mitochondrial dysfunction in Leber’s hereditary optic neuropathy. Brain. 2011 May;134(Pt 1):220-34. doi:10.1093/brain/awq276.
[6] Klopstock T, Yu-Wai-Man P, Dimitriadis K, Rouleau J, Heck S, Bailie M, et al. A randomized placebo-controlled trial of idebenone in Leber’s hereditary optic neuropathy. Brain. 2011;134(9):2677-86. doi:10.1093/brain/awr170.
[7] Yu-Wai-Man P, Chinnery PF. Leber hereditary optic neuropathy. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington; 1993-2023. https://www.ncbi.nlm.nih.gov/books/NBK1174/
[8] Klopstock T, Metz G, Yu-Wai-Man P, Büchner B, Gallenmüller C, Bailie M, et al. Persistence of the treatment effect of idebenone in Leber’s hereditary optic neuropathy. Brain. 2013;136(2):e230. doi:10.1093/brain/aws279.
[9] Jagtap CY, Karkera SG, Deole YS, Chandola HM. Zinc oxide nanoparticles in Ayurveda: physicochemical characterization and biomedical applications. Journal of Ayurveda and Integrative Medicine. 2021 Mar;12(1):147-155. doi:10.1016/j.jaim.2021.01.004
[10] Patwardhan B, Chavan-Gautam P, Gautam M, Tillu G, Chopra A, Gairola S, et al. Brahma Rasayana protects retinal ganglion cells via Nrf2-HO1 pathway: comparison with idebenone in oxidative stress models. Frontiers in Pharmacology. 2022 Apr 28;13:881458. doi:10.3389/fphar.2022.881458
[11] Koushik P, Dayma J. Swarna Bhasma as a nanomedicine in Ayurveda: a comprehensive review on its efficacy in remediation of rheumatoid arthritis. Journal of Ethnopharmacology. 2024 Feb 26;323:117674. doi:10.1016/j.jep.2024.117674