We are an organisation that supports people with disabilities, with emphasis on people with visual impairment caused by Leber’s Hereditary Optic Neuropathy – LHON
We act divulging and spreading information on Leber’s Hereditary Optic Neuropathy – LHON, including scientific updates, research in the area, and forms of diagnosis and treatment. We also offer information and contact for legal support, work reinsertion of people living with LHON, conviviality, and educational formation.
Through our support network and with our registration system, we’ve been identifying new people living with Leber’s Hereditary Optic Neuropathy – LHON for three years, as well as their needs in psychological, economic, social, medical, and legal fields. We also seek to support relatives, friends, and partners of people living with LHON.
Given the quality of life improvement of people living with Leber’s Hereditary Optic Neuropathy – LHON, we advocate along with State agencies, mainly, concerning the insertion of the LHON thematic in medical research, generating evidence that endorses the need of elaboration of public policies for diagnosis, treatment (palliative and definitive), and rehabilitation of people living with LHON.
Our network promotes the dissemination of the use of available technology to people who live with Leber’s Hereditary Optic Neuropathy – LHON so they can read, study, have leisure, have access to culture, and can overcome the obstacles of daily life.
Leber’s Hereditary Optic Neuropathy, or simply LHON, is a genetic condition that affects mainly the optic nerve, which can lead to vision loss in those that present this condition.
Optic nerve
The optic nerve is located in the back of the eye. It is also called the second cranial nerve or cranial nerve II. It is the second of several pairs of cranial nerves. The optic nerve’s function is to transfer visual information from the retina to the vision centres of the brain via electrical impulses.
The optic nerve is made of ganglion cells or nerve cells and consists of over one million nerve fibres. Our “blind spot” is caused by the absence of specialized photosensitive (light-sensitive) cells, or photoreceptors, in the part of the retina where the optic nerve exits the eye.
One of the most common diseases affecting the optic nerve is the glaucoma, which is caused by high intraocular pressure, or high pressure in the fluid that is inside the eye (the vitreous fluid). This high pressure compresses the optic nerve and causes cells to die, which is referred to as atrophy of the optic nerve.
Although the optic nerve is part of the eye, it is considered part of the central nervous system.
It is a rare disease that occurs when a person has an LHON genetic mutation as well as other symptoms besides vision loss, such as systemic and/or neurological problems. Vision loss (partial or total) is typically the only symptom of the Leber’s Hereditary Optic Neuropathy – LHON, however, cases of people with additional signs and symptoms have already been identified. This condition is described as “LHON PLUS,” and genetically it is considered a mitochondrial disease, like other LHON mutations. In addition to vision loss, the features of LHON Plus may include movement disorders, tremors, and abnormalities of the electrical signals that control the heartbeat (cardiac conduction defects). Some affected individuals develop features that are similar to multiple sclerosis, a chronic disorder characterized by muscle weakness, poor coordination, numbness, and a variety of other health problems.
Down below, we have summarized some information, but if you want to learn more about it, check out the article by the U.S. National Library of Medicine, that we have used as a base (access on 24th June 2020.)
In the article below, Leber’s Hereditary Optic Neuropathy – LHON Plus is described as a condition that affects multiple organs. A person living LHON Plus may have symptoms that involve the central nervous system, auditory system, endocrine organs, cardiac system, bone marrow, arteries, kidneys, or the peripheral nervous system.
Learn more about it at: https://www.dovepress.com/leberrsquos-hereditary-optic-neuropathy-is-multiorgan-not-mono-organ-peer-reviewed-fulltext-article-OPTH, access on 24th June 2020.
Since Leber’s Hereditary Optic Neuropathy – LHON Plus is a rare disease, patients may struggle to find doctors who are familiarised with and have experience diagnosing, following-up, and treating it. The search for a diagnosis is often lengthy and may require specialised doctors who are often found only at major research hospitals. A neuro-ophthalmologist may follow-up a person living with LHON Plus, but from a perspective that relates vision problems to the person’s neuro-visual system. Another doctor specialised on, for example, genetic and mitochondrial diseases may follow-up a person living with LHON Plus as well. These experts are usually trained in genetics/biochemistry, neurology, and/or neuromuscular diseases.
Medical centres + LHON links
Resources of assistive technology + apps + software + adaptations
Make your registration as a person living or coexisting (relatives, friends, partners, associates) with LHON. We want to know who you are to help you.
Brazil conference + international conferences + meetings
Reconvexo proposes to aid people with LHON to live a full and independent life, with freedom of mobility and autonomy to accomplish daily activities. That is why we need your help and support. Currently, we are trying to assemble a network of collaborators that can be paid for their work for the Institute. All raised funds are directed to projects and collaborators, and our financial report is provided annually.
"Uma instituição que vem para trazer informação e ajudar as pessoas tem um impacto muito grande na melhoria das políticas públicas de forma geral".
Aline Morais -
Consultora de Inclusão, Santa Causa
"Foram as ONGs que começaram a olhar para as pessoas e famílias e dizer: Nós temos direitos! Temos o direito de viver em sociedade como qualquer outra pessoa".
Camila Benvenuto -
Especialista em ambientes inclusivos
"Quando buscamos informações sobre a doença, percebemos que não é tão simples assim de encontrá-las. Por isso, ter um espaço e uma organização que promova essa troca de informações é fundamental".
Nicolas -
Portador de Lhon/Leber
LHON e a dificuldade de chegar a um diagnóstico correto
youtu.be
Neste episódio de LHON para LHON, Fernanda Loydi – Jornalista, afetada LHON desde 2019 entrevista Alexandre Braun, morador de Itaituba no Pará, afetado LHON…
Seguridade Social e Família – Neuropatia Óptica Hereditária de Leber (LHON) – 04/11/2021
youtu.be
Participe! Faça sua pergunta pelo portal e-Democracia: edemocracia.camara.leg.br/audiencias/sala/2434A Comissão de Seguridade Social e Família da Câm…
Reconvexo Institute
reconvexo@ireconvexo.com.br
+55 (11) 99547-3306
